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Acidosis
Dent Disease with mutations in OCRL1.
Acidosis, Renal Tubular
Dent Disease with mutations in OCRL1.
Acquired Immunodeficiency Syndrome
Human immunodeficiency virus isolates from asymptomatic homosexual men and from AIDS patients have distinct biologic and genetic properties.
Alzheimer Disease
A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.
Alzheimer Disease
Arf6 and the 5'phosphatase of Synaptojanin 1 regulate autophagy in cone photoreceptors.
Alzheimer Disease
Arf6 and the 5'phosphatase of synaptojanin 1 regulate autophagy in cone photoreceptors.
Alzheimer Disease
Combining data integration and molecular dynamics for target identification in ?-Synuclein-aggregating neurodegenerative diseases: Structural insights on Synaptojanin-1 (Synj1).
Alzheimer Disease
Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.
Alzheimer Disease
Identification of crizotinib derivatives as potent SHIP2 inhibitors for the treatment of Alzheimer's disease.
Alzheimer Disease
Pan-SHIP1/2 inhibitors promote microglia effector functions essential for CNS homeostasis.
Alzheimer Disease
Presynaptic endocytic factors in autophagy and neurodegeneration.
Alzheimer Disease
Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer's disease.
Alzheimer Disease
Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
Alzheimer Disease
Synaptophysin and Synaptojanin-1 in Down Syndrome are Differentially Affected by Alzheimer's Disease.
Alzheimer Disease
The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease.
Anaphylaxis
Small-molecule agonists of SHIP1 inhibit the phosphoinositide 3-kinase pathway in hematopoietic cells.
Arthritis
Inhibition of lipid phosphatase SHIP1 expands myeloid-derived suppressor cells and attenuates rheumatoid arthritis in mice.
Arthritis, Rheumatoid
Inhibition of lipid phosphatase SHIP1 expands myeloid-derived suppressor cells and attenuates rheumatoid arthritis in mice.
Asthma
The effects of the novel SHIP1 activator AQX-1125 on allergen-induced responses in mild-to-moderate asthma.
Astrocytoma
Evidence of SHIP2 S132 phosphorylation, its nuclear localization and stability.
Astrocytoma
SHIP2 signalling at the plasma membrane, in the nucleus and at focal contacts.
Atherosclerosis
CD and NMR conformational studies of a peptide encompassing the Mid Loop interface of Ship2-Sam.
Atherosclerosis
SHIP2 and its involvement in various diseases.
Autoimmune Diseases
Inhibition of lipid phosphatase SHIP1 expands myeloid-derived suppressor cells and attenuates rheumatoid arthritis in mice.
Bardet-Biedl Syndrome
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
Blindness
Deletion of the phosphatase INPP5E in the murine retina impairs photoreceptor axoneme formation and prevents disc morphogenesis.
Brain Diseases
Electroclinical Findings of SYNJ1 Epileptic Encephalopathy.
Breast Neoplasms
A novel oncogenic role of inositol phosphatase SHIP2 in ER-negative breast cancer stem cells: involvement of JNK/vimentin activation.
Breast Neoplasms
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Breast Neoplasms
Inhibition of SHIP2 activity inhibits cell migration and could prevent metastasis in breast cancer cells.
Breast Neoplasms
IRSp53 is a novel interactor of SHIP2: A role of the actin binding protein Mena in their cellular localization in breast cancer cells.
Breast Neoplasms
Phosphoinositol phosphatase SHIP2 promotes cancer development and metastasis coupled with alterations in EGF receptor turnover.
Breast Neoplasms
PI(3,4)P2 plays critical roles in the regulation of focal adhesion dynamics of MDA-MB-231 breast cancer cells.
Breast Neoplasms
PTEN and Other PtdIns(3,4,5)P3 Lipid Phosphatases in Breast Cancer.
Breast Neoplasms
Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatases.
Breast Neoplasms
SGK3 mediates INPP4B-dependent PI3K signaling in breast cancer.
Breast Neoplasms
SHIP2 phosphoinositol phosphatase positively regulates EGFR-Akt pathway, CXCR4 expression, and cell migration in MDA-MB-231 breast cancer cells.
Breast Neoplasms
Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer.
Breast Neoplasms
The Inositol Polyphosphate 5-Phosphatase PIPP Regulates AKT1-Dependent Breast Cancer Growth and Metastasis.
Breast Neoplasms
Therapeutic Potential of SH2 Domain-Containing Inositol-5'-Phosphatase 1 (SHIP1) and SHIP2 Inhibition in Cancer.
Breast Neoplasms
Tks5 and SHIP2 regulate invadopodium maturation, but not initiation, in breast carcinoma cells.
Breast Neoplasms
Upregulation of SHIP2 participates in the development of breast cancer via promoting Wnt/?-catenin signaling.
Candidiasis
The Candida albicans phosphatase Inp51p interacts with the EH domain protein Irs4p, regulates phosphatidylinositol-4,5-bisphosphate levels and influences hyphal formation, the cell integrity pathway and virulence.
Carcinogenesis
Decreased Sp1 Expression Mediates Downregulation of SHIP2 in Gastric Cancer Cells.
Carcinogenesis
Inactivation of SHIP1 in T-cell acute lymphoblastic leukemia due to mutation and extensive alternative splicing.
Carcinogenesis
Lipid phosphatase SHIP2 functions as oncogene in colorectal cancer by regulating PKB activation.
Carcinogenesis
PTEN and Other PtdIns(3,4,5)P3 Lipid Phosphatases in Breast Cancer.
Carcinogenesis
Suppression of SHIP2 contributes to tumorigenesis and proliferation of gastric cancer cells via activation of Akt.
Carcinogenesis
Upregulation of SHIP2 participates in the development of breast cancer via promoting Wnt/?-catenin signaling.
Carcinoma
5'-Inositol phosphatase SHIP2 recruits Mena to stabilize invadopodia for cancer cell invasion.
Carcinoma
AKT1 and PTEN show the highest affinities among phosphoinositide binding proteins for the second messengers PtdIns(3,4,5)P3 and PtdIns(3,4)P2.
Carcinoma
Ectopic Expression of Hematopoietic SHIP1 in Human Colorectal Cancer.
Carcinoma
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Carcinoma
Loss of inositol polyphosphate 5-phosphatase is an early event in development of cutaneous squamous cell carcinoma.
Carcinoma
Prognostic value of elevated SHIP2 expression in laryngeal squamous cell carcinoma.
Carcinoma
Synaptojanin 2 functions at an early step of clathrin-mediated endocytosis.
Carcinoma
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma in the general population.
Carcinoma
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma.
Carcinoma
Tissue distribution and intracellular localisation of the 75-kDa inositol polyphosphate 5-phosphatase.
Carcinoma, Ductal
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Carcinoma, Hepatocellular
Amplified increase in signal transduction activity in cancer cells.
Carcinoma, Hepatocellular
Downregulation of SHIP2 by Hepatitis B Virus X Promotes the Metastasis and Chemoresistance of Hepatocellular Carcinoma through SKP2.
Carcinoma, Hepatocellular
High expression of inositol polyphosphate phosphatase-like 1 associates with unfavorable survival in hepatocellular carcinoma.
Carcinoma, Hepatocellular
Identifying the Prognostic Risk Factors of Synaptojanin 2 and Its Underlying Perturbations Pathways in Hepatocellular Carcinoma.
Carcinoma, Hepatocellular
Significance of glucose intolerance and SHIP2 expression in hepatocellular carcinoma patients with HCV infection.
Carcinoma, Intraductal, Noninfiltrating
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Carcinoma, Non-Small-Cell Lung
Elevated expression of SHIP2 correlates with poor prognosis in non-small cell lung cancer.
Carcinoma, Non-Small-Cell Lung
PLEK2 mediates metastasis and vascular invasion via the ubiquitin-dependent degradation of SHIP2 in non-small cell lung cancer.
Carcinoma, Squamous Cell
Loss of inositol polyphosphate 5-phosphatase is an early event in development of cutaneous squamous cell carcinoma.
Carcinoma, Squamous Cell
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma in the general population.
Carcinoma, Squamous Cell
The prognostic value of inositol polyphosphate 5-phosphatase in cutaneous squamous cell carcinoma.
Cataract
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Cataract
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
Cataract
Dent Disease with mutations in OCRL1.
Cataract
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Cataract
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
Cataract
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
Cataract
Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL in Dictyostelium discoideum.
Cataract
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Cataract
Novel OCRL1 mutations in patients with the phenotype of Dent disease.
Cataract
OCRL1 Modulates Cilia Length in Renal Epithelial Cells.
Cataract
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.
Cataract
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Cataract
Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study.
Charcot-Marie-Tooth Disease
Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.
Charcot-Marie-Tooth Disease
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.
Charcot-Marie-Tooth Disease
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Charcot-Marie-Tooth Disease
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.
Ciliopathies
A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs.
Ciliopathies
A transient role of the ciliary gene Inpp5e in controlling direct versus indirect neurogenesis in cortical development.
Ciliopathies
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
Ciliopathies
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Ciliopathies
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Ciliopathies
Ciliary Phosphoinositide Regulates Ciliary Protein Trafficking in Drosophila.
Ciliopathies
Ciliopathies: Inpp5e links lipids, cysts and cilia.
Ciliopathies
Deletion of the phosphatase INPP5E in the murine retina impairs photoreceptor axoneme formation and prevents disc morphogenesis.
Ciliopathies
Induction of an Alternative mRNA 5' Leader Enhances Translation of the Ciliopathy Gene Inpp5e and Resistance to Oncolytic Virus Infection.
Ciliopathies
Inositol polyphosphate phosphatases in human disease.
Ciliopathies
INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability.
Ciliopathies
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
Ciliopathies
Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling.
Ciliopathies
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Ciliopathies
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Ciliopathies
Prenylated retinal ciliopathy protein RPGR interacts with PDE6? and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
Ciliopathies
Proteomic analysis of Mammalian primary cilia.
Ciliopathies
Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatases.
Ciliopathies
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane.
Cleft Lip
Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis.
Colitis
Interleukin-10 and Small Molecule SHIP1 Allosteric Regulators Trigger Anti-inflammatory Effects through SHIP1/STAT3 Complexes.
Colitis, Ulcerative
SHIP1 Deficiency in Inflammatory Bowel Disease Is Associated With Severe Crohn's Disease and Peripheral T Cell Reduction.
Colonic Neoplasms
Multiple defects in negative regulation of the PKB/Akt pathway sensitise human cancer cells to the antiproliferative effect of non-steroidal anti-inflammatory drugs.
Colorectal Neoplasms
Ectopic Expression of Hematopoietic SHIP1 in Human Colorectal Cancer.
Colorectal Neoplasms
High SHIP2 expression indicates poor survival in colorectal cancer.
Colorectal Neoplasms
Lipid phosphatase SHIP2 functions as oncogene in colorectal cancer by regulating PKB activation.
Colorectal Neoplasms
Upregulation of miR?598 promotes cell proliferation and cell cycle progression in human colorectal carcinoma by suppressing INPP5E expression.
Congenital Abnormalities
SH2-containing 5'-inositol phosphatase, SHIP2, regulates cytoskeleton organization and ligand-dependent down-regulation of the epidermal growth factor receptor.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Crohn Disease
Analysis of SHIP1 expression and activity in Crohn's disease patients.
Crohn Disease
Impaired T-cell survival promotes mucosal inflammatory disease in SHIP1-deficient mice.
Crohn Disease
Role of SHIP1 in cancer and mucosal inflammation.
Crohn Disease
SHIP1 Deficiency in Inflammatory Bowel Disease Is Associated With Severe Crohn's Disease and Peripheral T Cell Reduction.
Cysts
?-catenin ablation exacerbates polycystic kidney disease progression.
Cysts
Ciliopathies: Inpp5e links lipids, cysts and cilia.
Cysts
Eruptive vellus hair cysts in a patient with Lowe syndrome.
Cysts
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Cysts
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
Cysts
OCRL1 Modulates Cilia Length in Renal Epithelial Cells.
Cysts
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane.
Cysts
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
Dementia
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Dementia
Pan-SHIP1/2 inhibitors promote microglia effector functions essential for CNS homeostasis.
Dent Disease
A novel CLCN5 mutation in a Chinese boy with Dent's disease.
Dent Disease
A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.
Dent Disease
A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.
Dent Disease
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Dent Disease
Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome.
Dent Disease
Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.
Dent Disease
Dent Disease with mutations in OCRL1.
Dent Disease
Dent's disease.
Dent Disease
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Dent Disease
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Dent Disease
Kidney Tubular Ablation of
Dent Disease
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
Dent Disease
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Dent Disease
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
Dent Disease
Novel OCRL1 mutations in patients with the phenotype of Dent disease.
Dent Disease
OCRL Deficiency Impairs Endolysosomal Function in a Humanized Mouse Model for Lowe Syndrome and Dent Disease.
Dent Disease
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.
Dent Disease
OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability.
Dent Disease
OCRL1 mutations in patients with Dent disease phenotype in Japan.
Dent Disease
Phenotype and genotype of Dent's disease in three Chinese boys.
Dent Disease
Phenotype of Dent Disease in a Cohort of Indian Children.
Dent Disease
Recognition of the F&H motif by the Lowe syndrome protein OCRL.
Dent Disease
Renal manifestations of Dent disease and Lowe syndrome.
Dent Disease
The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.
Dent Disease
Two brothers with identical variants of the CLCN5 gene-one developing Dent's disease.
Dent Disease
[From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes]
Diabetes Mellitus
Novel Sulfonanilide Inhibitors of SHIP2 Enhance Glucose Uptake into Cultured Myotubes.
Diabetes Mellitus
Role of phosphatidylinositol 3-kinase activation on insulin action and its alteration in diabetic conditions.
Diabetes Mellitus
SHIP2: an emerging target for the treatment of type 2 diabetes mellitus.
Diabetes Mellitus
Single nucleotide polymorphisms on SHIP2 is associated with Type 2 diabetes mellitus in Chinese Han population.
Diabetes Mellitus
The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.
Diabetes Mellitus, Type 2
A new layer of phosphoinositide-mediated allosteric regulation uncovered for SHIP2.
Diabetes Mellitus, Type 2
Can Alzheimer disease be a form of type 3 diabetes?
Diabetes Mellitus, Type 2
Discovery and functional characterization of a novel small molecule inhibitor of the intracellular phosphatase, SHIP2.
Diabetes Mellitus, Type 2
Expression, Purification, Crystallisation and X-ray Crystallographic Analysis of a Truncated Form of Human Src Homology 2 Containing Inositol 5-Phosphatase 2.
Diabetes Mellitus, Type 2
Impact of SRC homology 2-containing inositol 5'-phosphatase 2 gene polymorphisms detected in a Japanese population on insulin signaling.
Diabetes Mellitus, Type 2
Impact of transgenic overexpression of SH2-containing inositol 5'-phosphatase 2 on glucose metabolism and insulin signaling in mice.
Diabetes Mellitus, Type 2
Inhibition of SH2-domain containing inositol phosphatase 2 (SHIP2) in insulin producing INS1E cells improves insulin signal transduction and induces proliferation.
Diabetes Mellitus, Type 2
Inhibitors of the lipid phosphatase SHIP2 discovered by high-throughput affinity selection-mass spectrometry screening of combinatorial libraries.
Diabetes Mellitus, Type 2
Lipid phosphatases as a possible therapeutic target in cases of type 2 diabetes and obesity.
Diabetes Mellitus, Type 2
Normalization of prandial blood glucose and improvement of glucose tolerance by liver-specific inhibition of SH2 domain containing inositol phosphatase 2 (SHIP2) in diabetic KKAy mice: SHIP2 inhibition causes insulin-mimetic effects on glycogen metabolism, gluconeogenesis, and glycolysis.
Diabetes Mellitus, Type 2
Novel Sulfonanilide Inhibitors of SHIP2 Enhance Glucose Uptake into Cultured Myotubes.
Diabetes Mellitus, Type 2
SHIP2 and its involvement in various diseases.
Diabetes Mellitus, Type 2
SHIP2: an emerging target for the treatment of type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Diabetes Mellitus, Type 2
Single nucleotide polymorphisms on SHIP2 is associated with Type 2 diabetes mellitus in Chinese Han population.
Diabetes Mellitus, Type 2
The gene INPPL1, encoding the lipid phosphatase SHIP2, is a candidate for type 2 diabetes in rat and man.
Diabetes Mellitus, Type 2
The inositol phosphatase SHIP2 negatively regulates insulin/IGF-I actions implicated in neuroprotection and memory function in mouse brain.
Diabetes Mellitus, Type 2
The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.
Diabetes Mellitus, Type 2
["SHIP2 and insulin signaling: what is its role in the pathogenesis and treatment of type 2 diabetes?"]
Diabetic Nephropathies
Novel Sulfonanilide Inhibitors of SHIP2 Enhance Glucose Uptake into Cultured Myotubes.
Diabetic Nephropathies
Protein phosphatases and podocyte function.
Diabetic Nephropathies
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Down Syndrome
A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.
Down Syndrome
Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.
Down Syndrome
Excessive expression of synaptojanin in brains with Down syndrome.
Down Syndrome
Phosphorylation of Synaptojanin Differentially Regulates Endocytosis of Functionally Distinct Synaptic Vesicle Pools.
Down Syndrome
Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
Down Syndrome
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome.
Down Syndrome
Synaptojanin-1 plays a key role in astrogliogenesis: possible relevance for Down's syndrome.
Down Syndrome
Synaptophysin and Synaptojanin-1 in Down Syndrome are Differentially Affected by Alzheimer's Disease.
Down Syndrome
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
Drug Resistant Epilepsy
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
Drug Resistant Epilepsy
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Dysentery
Shigella flexneri infection generates the lipid PI5P to alter endocytosis and prevent termination of EGFR signaling.
Dyslipidemias
SH2 domain-containing inositol 5-phosphatase (SHIP2) inhibition ameliorates high glucose-induced de-novo lipogenesis and VLDL production through regulating AMPK/mTOR/SREBP1 pathway and ROS production in HepG2 cells.
Dyslipidemias
SH2 domain-containing inositol 5-phosphatase (SHIP2) regulates de-novo lipogenesis and secretion of apoB100 containing lipoproteins in HepG2 cells.
Dystonia
'Atypical' Parkinson's disease - genetic.
Dystonia
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism.
Dystonia
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Encephalitis, Japanese
Pathogenicity and virulence of Japanese encephalitis virus: Neuroinflammation and neuronal cell damage.
Endotoxemia
Small-molecule agonists of SHIP1 inhibit the phosphoinositide 3-kinase pathway in hematopoietic cells.
Epidermal Cyst
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.
Epilepsy
A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.
Epilepsy
A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.
Epilepsy
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Epilepsy
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Epileptic Syndromes
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Fanconi Syndrome
A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.
Fanconi Syndrome
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Fanconi Syndrome
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
Gastroenteritis
A Vibrio effector protein is an inositol phosphatase and disrupts host cell membrane integrity.
Genetic Diseases, Inborn
A novel CLCN5 mutation in a Chinese boy with Dent's disease.
Genetic Diseases, Inborn
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
Genetic Diseases, Inborn
Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.
Genetic Diseases, Inborn
Phosphatidylinositol signalling reactions.
Genetic Diseases, Inborn
Phosphoinositide signaling disorders in human diseases.
Genetic Diseases, Inborn
Phosphoinositides in the kidney.
Genetic Diseases, Inborn
PTEN reduces endosomal PtdIns(4,5)P2 in a phosphatase-independent manner via a PLC pathway.
Genetic Diseases, Inborn
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
Genetic Diseases, X-Linked
Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling.
Glaucoma
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
Glaucoma
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Glaucoma
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Glioblastoma
Lipid phosphatases SKIP and SHIP2 regulate fibronectin-dependent cell migration in glioblastoma.
Glioblastoma
Phosphoinositide 5-phosphatase activities control cell motility in glioblastoma: Two phosphoinositides PI(4,5)P2 and PI(3,4)P2 are involved.
Glioblastoma
Role of synaptojanin 2 in glioma cell migration and invasion.
Glioblastoma
SHIP2 controls plasma membrane PI(4,5)P2 thereby participating in the control of cell migration in 1321 N1 glioblastoma.
Glioblastoma
SHIP2 signaling in normal and pathological situations: Its impact on cell proliferation.
Glioblastoma
The SHIP2 interactor Myo1c is required for cell migration in 1321 N1 glioblastoma cells.
Glioma
Role of synaptojanin 2 in glioma cell migration and invasion.
Glioma
The inositol 5-phosphatase SHIP2 is an effector of RhoA and is involved in cell polarity and migration.
Glucose Intolerance
Developmental defects and rescue from glucose intolerance of a catalytically-inactive novel Ship2 mutant mouse.
Glucose Intolerance
Significance of glucose intolerance and SHIP2 expression in hepatocellular carcinoma patients with HCV infection.
Hearing Loss
A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart.
Hearing Loss, High-Frequency
Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in Mice.
Hematologic Neoplasms
SHIP1 inhibition increases immunoregulatory capacity and triggers apoptosis of hematopoietic cancer cells.
Hematuria
Phenotype of Dent Disease in a Cohort of Indian Children.
Hepatitis B
Downregulation of SHIP2 by Hepatitis B Virus X Promotes the Metastasis and Chemoresistance of Hepatocellular Carcinoma through SKP2.
Hepatitis B
Suppression of hepatitis B viral gene expression by phosphoinositide 5-phosphatase SKIP.
Hepatitis C
SHIP2 regulates epithelial cell polarity through its lipid product, which binds to Dlg1, a pathway subverted by hepatitis C virus core protein.
Hepatitis, Autoimmune
Anti-CD200 attenuates concanavalin A induced hepatitis via modulating the imbalance of CD4+ T lymphocyte differentiation in mice.
Hydrocephalus
OCRL1 Modulates Cilia Length in Renal Epithelial Cells.
Hypersensitivity
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Hypersensitivity
Non-T Cell Activation Linker Promotes Mast Cell Survival by Dampening the Recruitment of SHIP1 by Linker for Activation of T Cells.
Hypersensitivity
Regulation of Fc?RI signaling by lipid phosphatases.
Hypersensitivity
The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.
Hypertension
APOE4-VLDL inhibits the HDL-activated phosphatidylinositol 3-kinase/Akt Pathway via the phosphoinositol phosphatase SHIP2.
Hypertension
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Hypertension
Single nucleotide polymorphisms on SHIP2 is associated with Type 2 diabetes mellitus in Chinese Han population.
Hypoglycemia
The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.
Hypogonadism
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Hypophosphatemia
Phenotype of Dent Disease in a Cohort of Indian Children.
Ileitis
Analysis of SHIP1 expression and activity in Crohn's disease patients.
Ileitis
SHIP1 Deficiency in Inflammatory Bowel Disease Is Associated With Severe Crohn's Disease and Peripheral T Cell Reduction.
Infections
A phosphoinositide 5-phosphatase from Solanum tuberosum is activated by PAMP-treatment and may antagonize phosphatidylinositol 4,5-bisphosphate at Phytophthora infestans infection sites.
Infections
Dendritic-cell expression of Ship1 regulates Th2 immunity to helminth infection in mice.
Infections
Human Cytomegalovirus Glycoprotein-Initiated Signaling Mediates the Aberrant Activation of Akt.
Infections
Induction of an Alternative mRNA 5' Leader Enhances Translation of the Ciliopathy Gene Inpp5e and Resistance to Oncolytic Virus Infection.
Infections
MicroRNA 155 Regulates Japanese Encephalitis Virus-Induced Inflammatory Response by Targeting Src Homology 2-Containing Inositol Phosphatase 1.
Infections
Myeloid cell-specific expression of Ship1 regulates IL-12 production and immunity to helminth infection.
Infections
Porcine Fc?RIIb mediated PRRSV ADE infection through inhibiting IFN-? by cytoplasmic inhibitory signal transduction.
Infections
Significance of glucose intolerance and SHIP2 expression in hepatocellular carcinoma patients with HCV infection.
Infertility, Male
X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice.
Inflammatory Bowel Diseases
SHIP1 Deficiency in Inflammatory Bowel Disease Is Associated With Severe Crohn's Disease and Peripheral T Cell Reduction.
Insulin Resistance
A small-molecule inhibitor of SHIP1 reverses age- and diet-associated obesity and metabolic syndrome.
Insulin Resistance
Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity.
Insulin Resistance
Antisense oligonucleotides against the lipid phosphatase SHIP2 improve muscle insulin sensitivity in a dietary rat model of the metabolic syndrome.
Insulin Resistance
Endothelial SHIP2 Suppresses Nox2 NADPH Oxidase-Dependent Vascular Oxidative Stress, Endothelial Dysfunction and Systemic Insulin Resistance.
Insulin Resistance
Impact of lipid phosphatases SHIP2 and PTEN on the time- and Akt-isoform-specific amelioration of TNF-alpha-induced insulin resistance in 3T3-L1 adipocytes.
Insulin Resistance
Impact of transgenic overexpression of SH2-containing inositol 5'-phosphatase 2 on glucose metabolism and insulin signaling in mice.
Insulin Resistance
Inhibition of 72k-5ptase improves insulin signal transduction in diet-induced obesity.
Insulin Resistance
Inhibition of endogenous SHIP2 ameliorates insulin resistance caused by chronic insulin treatment in 3T3-L1 adipocytes.
Insulin Resistance
INPPL1 gene mutations in opsismodysplasia.
Insulin Resistance
Lipid phosphatases as a possible therapeutic target in cases of type 2 diabetes and obesity.
Insulin Resistance
Novel Sulfonanilide Inhibitors of SHIP2 Enhance Glucose Uptake into Cultured Myotubes.
Insulin Resistance
Phosphoinositide phosphatases: just as important as the kinases.
Insulin Resistance
Protein phosphatases and podocyte function.
Insulin Resistance
PTEN and SHIP2 phosphoinositide phosphatases as negative regulators of insulin signalling.
Insulin Resistance
PTEN and SHIP2 regulates PI3K/Akt pathway through focal adhesion kinase.
Insulin Resistance
Reversal of denervation-induced insulin resistance by SHIP2 protein synthesis blockade.
Insulin Resistance
SH2 domain-containing inositol 5-phosphatase (SHIP2) inhibition ameliorates high glucose-induced de-novo lipogenesis and VLDL production through regulating AMPK/mTOR/SREBP1 pathway and ROS production in HepG2 cells.
Insulin Resistance
SH2-containing inositol phosphatase 2 predominantly regulates Akt2, and not Akt1, phosphorylation at the plasma membrane in response to insulin in 3T3-L1 adipocytes.
Insulin Resistance
SHIP2 overexpression strongly reduces the proliferation rate of K562 erythroleukemia cell line.
Insulin Resistance
SHIP2, a factor associated with diet-induced obesity and insulin sensitivity, attenuates FGF signaling in vivo.
Insulin Resistance
SHIP2: a "NEW" insulin pathway target for ageing research.
Insulin Resistance
SHIP2: an emerging target for the treatment of type 2 diabetes mellitus.
Insulin Resistance
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Insulin Resistance
The c-Cbl-associated protein and c-Cbl are two new partners of the SH2-containing inositol polyphosphate 5-phosphatase SHIP2.
Insulin Resistance
The inositol phosphatase SHIP2 negatively regulates insulin/IGF-I actions implicated in neuroprotection and memory function in mouse brain.
Insulin Resistance
The lipid phosphatase SHIP2 controls insulin sensitivity.
Insulin Resistance
The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease.
Insulin Resistance
The SH2 domain containing inositol 5-phosphatase SHIP2 controls phosphatidylinositol 3,4,5-trisphosphate levels in CHO-IR cells stimulated by insulin.
Insulinoma
Inhibition of SH2-domain containing inositol phosphatase 2 (SHIP2) in insulin producing INS1E cells improves insulin signal transduction and induces proliferation.
Intellectual Disability
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Intellectual Disability
A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.
Intellectual Disability
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Intellectual Disability
Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes.
Intellectual Disability
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
Intellectual Disability
Dent Disease with mutations in OCRL1.
Intellectual Disability
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Intellectual Disability
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Intellectual Disability
Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.
Intellectual Disability
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
Intellectual Disability
OCRL1 Modulates Cilia Length in Renal Epithelial Cells.
Intellectual Disability
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.
Intellectual Disability
Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells.
Intellectual Disability
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.
Kidney Diseases, Cystic
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane.
Laryngeal Neoplasms
Descending-SHIP2-mediated radiosensitivity enhancement through PI3K/Akt signaling pathway in laryngeal squamous cell carcinoma.
Leukemia
Frequency and amplitude control of cortical oscillations by phosphoinositide waves.
Leukemia
Leukemia-associated mutations in SHIP1 inhibit its enzymatic activity, interaction with the GM-CSF receptor and Grb2, and its ability to inactivate PI3K/AKT signaling.
Leukemia
Phosphoinositide phosphatases: just as important as the kinases.
Leukemia, Erythroblastic, Acute
SHIP2 overexpression strongly reduces the proliferation rate of K562 erythroleukemia cell line.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
A novel SH2-containing phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase (SHIP2) is constitutively tyrosine phosphorylated and associated with src homologous and collagen gene (SHC) in chronic myelogenous leukemia progenitor cells.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
SHIP2 overexpression strongly reduces the proliferation rate of K562 erythroleukemia cell line.
Leukemia, Myeloid
SHIP1, but not an AML-derived SHIP1 mutant, suppresses myeloid leukemia growth in a xenotransplantation mouse model.
Leukemia, Myeloid
The inositol 5-phosphatase SHIP1 is a nucleo-cytoplasmic shuttling protein and enzymatically active in cell nuclei.
Leukemia, Myeloid, Acute
Leukemia-associated mutations in SHIP1 inhibit its enzymatic activity, interaction with the GM-CSF receptor and Grb2, and its ability to inactivate PI3K/AKT signaling.
Leukemia, Myeloid, Acute
Nuclear accumulation of SHIP1 mutants derived from AML patients leads to increased proliferation of leukemic cells.
Leukemia, Myeloid, Acute
Phosphoinositide signaling disorders in human diseases.
Leukemia, Myeloid, Acute
SHIP1 is targeted by miR-155 in acute myeloid leukemia.
Liver Cirrhosis
High expression of inositol polyphosphate phosphatase-like 1 associates with unfavorable survival in hepatocellular carcinoma.
Liver Neoplasms
Scaffold dependent role of the inositol 5'-phosphatase SHIP2, in regulation of oxidative stress induced apoptosis.
Lung Neoplasms
Elevated expression of SHIP2 correlates with poor prognosis in non-small cell lung cancer.
Lung Neoplasms
PLEK2 mediates metastasis and vascular invasion via the ubiquitin-dependent degradation of SHIP2 in non-small cell lung cancer.
Lung Neoplasms
SHIP1 inhibits cell growth, migration, and invasion in non?small cell lung cancer through the PI3K/AKT pathway.
Lymphatic Diseases
Evidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunction.
Lymphatic Metastasis
Circulating SHIP2 mRNA as a novel biomarker in the diagnosis and prognosis of gastric cancer.
Lymphatic Metastasis
Ectopic Expression of Hematopoietic SHIP1 in Human Colorectal Cancer.
Lymphatic Metastasis
Elevated expression of SHIP2 correlates with poor prognosis in non-small cell lung cancer.
Lymphatic Metastasis
High SHIP2 expression indicates poor survival in colorectal cancer.
Lymphedema
Evidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunction.
Lymphoma
Beyond the Cell Surface: Targeting Intracellular Negative Regulators to Enhance T cell Anti-Tumor Activity.
Lymphoma
Onco-miR-155 targets SHIP1 to promote TNFalpha-dependent growth of B cell lymphomas.
Lymphoma
Phosphoinositide phosphatase SHIP-1 regulates apoptosis induced by edelfosine, Fas ligation and DNA damage in mouse lymphoma cells.
Lymphoma
SH2-containing inositol 5-phosphatases 1 and 2 in blood platelets: their interactions and roles in the control of phosphatidylinositol 3,4,5-trisphosphate levels.
Lymphoma, B-Cell
Onco-miR-155 targets SHIP1 to promote TNFalpha-dependent growth of B cell lymphomas.
Lymphoma, B-Cell
Pathogenicity and virulence of Japanese encephalitis virus: Neuroinflammation and neuronal cell damage.
Lymphoma, B-Cell
SHIP1, but not an AML-derived SHIP1 mutant, suppresses myeloid leukemia growth in a xenotransplantation mouse model.
Lymphoma, Large B-Cell, Diffuse
Onco-miR-155 targets SHIP1 to promote TNFalpha-dependent growth of B cell lymphomas.
Medulloblastoma
A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to maintain cilia and promote Sonic Hedgehog medulloblastoma.
Melanoma
Loss of PI(4,5)P2 5-Phosphatase A Contributes to Resistance of Human Melanoma Cells to RAF/MEK Inhibitors.
Melanoma
PI(4,5)P2 5-phosphatase A regulates PI3K/Akt signalling and has a tumour suppressive role in human melanoma.
Melanoma
Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatases.
Memory Disorders
Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.
Mental Retardation, X-Linked
Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.
Metabolic Diseases
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Metabolic Syndrome
A small-molecule inhibitor of SHIP1 reverses age- and diet-associated obesity and metabolic syndrome.
Metabolic Syndrome
Antisense oligonucleotides against the lipid phosphatase SHIP2 improve muscle insulin sensitivity in a dietary rat model of the metabolic syndrome.
Metabolic Syndrome
APOE4-VLDL inhibits the HDL-activated phosphatidylinositol 3-kinase/Akt Pathway via the phosphoinositol phosphatase SHIP2.
Metabolic Syndrome
Can Alzheimer disease be a form of type 3 diabetes?
Metabolic Syndrome
SHIP2: a "NEW" insulin pathway target for ageing research.
Metabolic Syndrome
SHIPping out diabetes-Metformin, an old friend among new SHIP2 inhibitors.
Metabolic Syndrome
Single nucleotide polymorphisms on SHIP2 is associated with Type 2 diabetes mellitus in Chinese Han population.
Microphthalmos
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Movement Disorders
'Atypical' Parkinson's disease - genetic.
Movement Disorders
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Multiple Myeloma
Therapeutic Potential of SH2 Domain-Containing Inositol-5'-Phosphatase 1 (SHIP1) and SHIP2 Inhibition in Cancer.
Multiple Sclerosis
Evaluation of the Effect of Mannuronic Acid as a Novel NSAID With Immunosuppressive Properties on Expression of SOCS1, SOCS3, SHIP1, and TRAF6 Genes and Serum Levels of IL-6 and TNF-? in Patients With Multiple Sclerosis.
Multiple Sclerosis, Chronic Progressive
Evaluation of the Effect of Mannuronic Acid as a Novel NSAID With Immunosuppressive Properties on Expression of SOCS1, SOCS3, SHIP1, and TRAF6 Genes and Serum Levels of IL-6 and TNF-? in Patients With Multiple Sclerosis.
Muscle Hypotonia
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Muscle Hypotonia
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Muscular Diseases
Deficiency of MTMR14 impairs male fertility in Mus musculus.
Muscular Diseases
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
Muscular Diseases
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.
Muscular Dystrophies
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Myeloproliferative Disorders
Inositol phosphatase SHIP1 is a primary target of miR-155.
Myeloproliferative Disorders
Restoration of SHIP activity in a human leukemia cell line downregulates constitutively activated phosphatidylinositol 3-kinase/Akt/GSK-3beta signaling and leads to an increased transit time through the G1 phase of the cell cycle.
Myopathies, Structural, Congenital
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Myopathies, Structural, Congenital
Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.
Myopathies, Structural, Congenital
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.
Myopathies, Structural, Congenital
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Myopathies, Structural, Congenital
Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
Myopathies, Structural, Congenital
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.
Myopathies, Structural, Congenital
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Neoplasm Metastasis
5'-Inositol phosphatase SHIP2 recruits Mena to stabilize invadopodia for cancer cell invasion.
Neoplasm Metastasis
A novel oncogenic role of inositol phosphatase SHIP2 in ER-negative breast cancer stem cells: involvement of JNK/vimentin activation.
Neoplasm Metastasis
Circulating SHIP2 mRNA as a novel biomarker in the diagnosis and prognosis of gastric cancer.
Neoplasm Metastasis
Downregulation of SHIP2 by Hepatitis B Virus X Promotes the Metastasis and Chemoresistance of Hepatocellular Carcinoma through SKP2.
Neoplasm Metastasis
Ectopic Expression of Hematopoietic SHIP1 in Human Colorectal Cancer.
Neoplasm Metastasis
Elevated expression of SHIP2 correlates with poor prognosis in non-small cell lung cancer.
Neoplasm Metastasis
High SHIP2 expression indicates poor survival in colorectal cancer.
Neoplasm Metastasis
Inhibition of SHIP2 activity inhibits cell migration and could prevent metastasis in breast cancer cells.
Neoplasm Metastasis
Phosphoinositol phosphatase SHIP2 promotes cancer development and metastasis coupled with alterations in EGF receptor turnover.
Neoplasm Metastasis
PLEK2 mediates metastasis and vascular invasion via the ubiquitin-dependent degradation of SHIP2 in non-small cell lung cancer.
Neoplasm Metastasis
SHIP2 phosphoinositol phosphatase positively regulates EGFR-Akt pathway, CXCR4 expression, and cell migration in MDA-MB-231 breast cancer cells.
Neoplasm Metastasis
Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer.
Neoplasm Metastasis
The Inositol Polyphosphate 5-Phosphatase PIPP Regulates AKT1-Dependent Breast Cancer Growth and Metastasis.
Neoplasms
5'-Inositol phosphatase SHIP2 recruits Mena to stabilize invadopodia for cancer cell invasion.
Neoplasms
A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to maintain cilia and promote Sonic Hedgehog medulloblastoma.
Neoplasms
A new layer of phosphoinositide-mediated allosteric regulation uncovered for SHIP2.
Neoplasms
A novel oncogenic role of inositol phosphatase SHIP2 in ER-negative breast cancer stem cells: involvement of JNK/vimentin activation.
Neoplasms
Abnormal elevated PTEN expression in the mouse antrum of a model of GIST Kit(K641E/K641E).
Neoplasms
Amplified increase in signal transduction activity in cancer cells.
Neoplasms
Analysis of the FLVR motif of SHIP1 and its importance for the protein stability of SH2 containing signaling proteins.
Neoplasms
BRCA1 Promoter Methylation Is Linked to Defective Homologous Recombination Repair and Elevated miR-155 to Disrupt Myeloid Differentiation in Myeloid Malignancies.
Neoplasms
CD and NMR conformational studies of a peptide encompassing the Mid Loop interface of Ship2-Sam.
Neoplasms
Characterization of the substrate specificity of the inositol 5-phosphatase SHIP1.
Neoplasms
Controlling the activity of PTEN by membrane potential.
Neoplasms
Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
Neoplasms
Descending-SHIP2-mediated radiosensitivity enhancement through PI3K/Akt signaling pathway in laryngeal squamous cell carcinoma.
Neoplasms
Differential role of PTEN phosphatase in chemotactic growth cone guidance.
Neoplasms
Downregulation of SHIP2 by Hepatitis B Virus X Promotes the Metastasis and Chemoresistance of Hepatocellular Carcinoma through SKP2.
Neoplasms
Ectopic Expression of Hematopoietic SHIP1 in Human Colorectal Cancer.
Neoplasms
Elevated expression of SHIP2 correlates with poor prognosis in non-small cell lung cancer.
Neoplasms
Expression of inositol polyphosphate 4-phosphatase type II and the prognosis of oral squamous cell carcinoma.
Neoplasms
Expression, Purification, Crystallisation and X-ray Crystallographic Analysis of a Truncated Form of Human Src Homology 2 Containing Inositol 5-Phosphatase 2.
Neoplasms
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.
Neoplasms
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
Neoplasms
Gene structure, expression profiling and mutation analysis of the tumour suppressor SHIP1 in Caucasian acute myeloid leukaemia.
Neoplasms
Genetic profile of GNAQ-mutated blue melanocytic neoplasms reveals mutations in genes linked to genomic instability and the PI3K pathway.
Neoplasms
Global phosphotyrosine proteomics identifies PKC? as a marker of responsiveness to Src inhibition in colorectal cancer.
Neoplasms
High expression of inositol polyphosphate phosphatase-like 1 associates with unfavorable survival in hepatocellular carcinoma.
Neoplasms
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Neoplasms
High SHIP2 expression indicates poor survival in colorectal cancer.
Neoplasms
ILT3 promotes tumor cell motility and angiogenesis in non-small cell lung cancer.
Neoplasms
Inhibition of SHIP2 activity inhibits cell migration and could prevent metastasis in breast cancer cells.
Neoplasms
Inhibitor and activator: dual functions for SHIP in immunity and cancer.
Neoplasms
INPPL1 gene mutations in opsismodysplasia.
Neoplasms
Leukemia-associated mutations in SHIP1 inhibit its enzymatic activity, interaction with the GM-CSF receptor and Grb2, and its ability to inactivate PI3K/AKT signaling.
Neoplasms
Lipid phosphatase SHIP2 functions as oncogene in colorectal cancer by regulating PKB activation.
Neoplasms
Living with lethal PIP3 levels: viability of flies lacking PTEN restored by a PH domain mutation in Akt/PKB.
Neoplasms
Loss of PI(4,5)P2 5-Phosphatase A Contributes to Resistance of Human Melanoma Cells to RAF/MEK Inhibitors.
Neoplasms
Modulation of epithelial neoplasia and lymphoid hyperplasia in PTEN+/- mice by the p85 regulatory subunits of phosphoinositide 3-kinase.
Neoplasms
NMR studies of a heterotypic Sam-Sam domain association: the interaction between the lipid phosphatase Ship2 and the EphA2 receptor.
Neoplasms
Nuclear accumulation of SHIP1 mutants derived from AML patients leads to increased proliferation of leukemic cells.
Neoplasms
Nuclear PTEN-mediated growth suppression is independent of Akt down-regulation.
Neoplasms
Onco-miR-155 targets SHIP1 to promote TNFalpha-dependent growth of B cell lymphomas.
Neoplasms
Overexpression of miR-155 causes expansion, arrest in terminal differentiation and functional activation of mouse natural killer cells.
Neoplasms
Pathogenicity and virulence of Japanese encephalitis virus: Neuroinflammation and neuronal cell damage.
Neoplasms
Phosphatidylinositolphosphate phosphatase activities and cancer.
Neoplasms
Phosphoinositide signaling disorders in human diseases.
Neoplasms
Phosphoinositol phosphatase SHIP2 promotes cancer development and metastasis coupled with alterations in EGF receptor turnover.
Neoplasms
Phosphorylated SHIP2 on Y1135 localizes at focal adhesions and at the mitotic spindle in cancer cell lines.
Neoplasms
PI(4,5)P2 5-phosphatase A regulates PI3K/Akt signalling and has a tumour suppressive role in human melanoma.
Neoplasms
Plasma proteome plus site-specific N-glycoprofiling for hepatobiliary carcinomas.
Neoplasms
Preclinical Evaluation of a Novel SHIP1 Phosphatase Activator for Inhibition of PI3K Signaling in Malignant B Cells.
Neoplasms
Prognostic value of elevated SHIP2 expression in laryngeal squamous cell carcinoma.
Neoplasms
PTEN and Other PtdIns(3,4,5)P3 Lipid Phosphatases in Breast Cancer.
Neoplasms
PTEN at the crossroad of metabolic diseases and cancer in the liver.
Neoplasms
Regulation of PtdIns(3,4,5)P3/Akt signalling by inositol polyphosphate 5-phosphatases.
Neoplasms
Regulation of synaptojanin 2 5'-phosphatase activity by Src.
Neoplasms
Role of SHIP1 in cancer and mucosal inflammation.
Neoplasms
Role of synaptojanin 2 in glioma cell migration and invasion.
Neoplasms
SHIP, SHIP2, and PTEN activities are regulated in vivo by modulation of their protein levels: SHIP is up-regulated in macrophages and mast cells by lipopolysaccharide.
Neoplasms
SHIP1 inhibition increases immunoregulatory capacity and triggers apoptosis of hematopoietic cancer cells.
Neoplasms
SHIP1 inhibits cell growth, migration, and invasion in non?small cell lung cancer through the PI3K/AKT pathway.
Neoplasms
SHIP1, but not an AML-derived SHIP1 mutant, suppresses myeloid leukemia growth in a xenotransplantation mouse model.
Neoplasms
SHIP2 and its involvement in various diseases.
Neoplasms
SHIP2 controls PtdIns(3,4,5)P(3) levels and PKB activity in response to oxidative stress.
Neoplasms
SHIP2 phosphoinositol phosphatase positively regulates EGFR-Akt pathway, CXCR4 expression, and cell migration in MDA-MB-231 breast cancer cells.
Neoplasms
SHIP2 signaling in normal and pathological situations: Its impact on cell proliferation.
Neoplasms
Src homology 2 domain-containing inositol-5-phosphatase 1 (SHIP1) negatively regulates TLR4-mediated LPS response primarily through a phosphatase activity- and PI-3K-independent mechanism.
Neoplasms
Suppression of SHIP2 contributes to tumorigenesis and proliferation of gastric cancer cells via activation of Akt.
Neoplasms
Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer.
Neoplasms
Targeting SHIP1 and SHIP2 in Cancer.
Neoplasms
The role of SHIP in cytokine-induced signaling.
Neoplasms
The Sam-Sam interaction between Ship2 and the EphA2 receptor: design and analysis of peptide inhibitors.
Neoplasms
The tumor suppressor PTEN positively regulates macroautophagy by inhibiting the phosphatidylinositol 3-kinase/protein kinase B pathway.
Neoplasms
The tumor suppressor SHIP1 colocalizes in nucleolar cavities with p53 and components of PML nuclear bodies.
Neoplasms
Therapeutic Potential of SH2 Domain-Containing Inositol-5'-Phosphatase 1 (SHIP1) and SHIP2 Inhibition in Cancer.
Neoplasms
Tumour-intrinsic resistance to immune checkpoint blockade.
Neoplasms
Upregulation of SHIP2 participates in the development of breast cancer via promoting Wnt/?-catenin signaling.
Nephrolithiasis
Phenotype of Dent Disease in a Cohort of Indian Children.
Nervous System Diseases
AS1949490, an inhibitor of 5'-lipid phosphatase SHIP2, promotes protein kinase C-dependent stabilization of brain-derived neurotrophic factor mRNA in cultured cortical neurons.
Nervous System Diseases
Phosphorylation of Synaptojanin Differentially Regulates Endocytosis of Functionally Distinct Synaptic Vesicle Pools.
Neural Tube Defects
Down-Regulation of Inpp5e Associated With Abnormal Ciliogenesis During Embryonic Neurodevelopment Under Inositol Deficiency.
Neural Tube Defects
INPP5E regulates phosphoinositide-dependent cilia transition zone function.
Neural Tube Defects
Relationship Between INPP5E Gene Expression and Embryonic Neural Development in a Mouse Model of Neural Tube Defect.
Neuroblastoma
Differences in the metabolism of inositol and phosphoinositides by cultured cells of neuronal and glial origin.
Neuroblastoma
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.
Neurodegenerative Diseases
Combining data integration and molecular dynamics for target identification in ?-Synuclein-aggregating neurodegenerative diseases: Structural insights on Synaptojanin-1 (Synj1).
Neurodegenerative Diseases
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Neurodegenerative Diseases
Other proteins involved in Parkinson's disease and related disorders.
Neurodegenerative Diseases
SHIP2 and its involvement in various diseases.
Neurodegenerative Diseases
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Obesity
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Obesity
A small-molecule inhibitor of SHIP1 reverses age- and diet-associated obesity and metabolic syndrome.
Obesity
A Synthetic Polyphosphoinositide Headgroup Surrogate in Complex with SHIP2 Provides a Rationale for Drug Discovery.
Obesity
Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity.
Obesity
APOE4-VLDL inhibits the HDL-activated phosphatidylinositol 3-kinase/Akt Pathway via the phosphoinositol phosphatase SHIP2.
Obesity
High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.
Obesity
Inhibition of 72k-5ptase improves insulin signal transduction in diet-induced obesity.
Obesity
INPPL1 gene mutations in opsismodysplasia.
Obesity
Lipid phosphatases as a possible therapeutic target in cases of type 2 diabetes and obesity.
Obesity
Mapping adipose and muscle tissue expression quantitative trait loci in African Americans to identify genes for type 2 diabetes and obesity.
Obesity
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.
Obesity
Phosphoinositide-specific inositol polyphosphate 5-phosphatase IV inhibits inositide trisphosphate accumulation in hypothalamus and regulates food intake and body weight.
Obesity
SH2-containing 5'-inositol phosphatase, SHIP2, regulates cytoskeleton organization and ligand-dependent down-regulation of the epidermal growth factor receptor.
Obesity
SHIP2, a factor associated with diet-induced obesity and insulin sensitivity, attenuates FGF signaling in vivo.
Obesity
The SH2 domain containing inositol polyphosphate 5-phosphatase-2: SHIP2.
Oculocerebrorenal Syndrome
A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome.
Oculocerebrorenal Syndrome
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
Oculocerebrorenal Syndrome
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.
Oculocerebrorenal Syndrome
A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome.
Oculocerebrorenal Syndrome
A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome.
Oculocerebrorenal Syndrome
A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.
Oculocerebrorenal Syndrome
A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the "O" in OCRL.
Oculocerebrorenal Syndrome
A presynaptic inositol-5-phosphatase.
Oculocerebrorenal Syndrome
A role for OCRL in glomerular function and disease.
Oculocerebrorenal Syndrome
A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.
Oculocerebrorenal Syndrome
A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.
Oculocerebrorenal Syndrome
A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.
Oculocerebrorenal Syndrome
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Oculocerebrorenal Syndrome
Amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in lowe syndrome.
Oculocerebrorenal Syndrome
Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL.
Oculocerebrorenal Syndrome
Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.
Oculocerebrorenal Syndrome
Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate.
Oculocerebrorenal Syndrome
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.
Oculocerebrorenal Syndrome
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.
Oculocerebrorenal Syndrome
Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.
Oculocerebrorenal Syndrome
Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome.
Oculocerebrorenal Syndrome
Dent Disease with mutations in OCRL1.
Oculocerebrorenal Syndrome
Dent's disease.
Oculocerebrorenal Syndrome
Dent's disease: clinical features and molecular basis.
Oculocerebrorenal Syndrome
Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.
Oculocerebrorenal Syndrome
Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.
Oculocerebrorenal Syndrome
dOCRL maintains immune cell quiescence by regulating endosomal traffic.
Oculocerebrorenal Syndrome
Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome.
Oculocerebrorenal Syndrome
First report of prenatal biochemical diagnosis of Lowe syndrome.
Oculocerebrorenal Syndrome
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Oculocerebrorenal Syndrome
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
Oculocerebrorenal Syndrome
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
Oculocerebrorenal Syndrome
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
Oculocerebrorenal Syndrome
Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain.
Oculocerebrorenal Syndrome
Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.
Oculocerebrorenal Syndrome
Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.
Oculocerebrorenal Syndrome
Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome.
Oculocerebrorenal Syndrome
Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome.
Oculocerebrorenal Syndrome
Impaired neural development in a zebrafish model for Lowe syndrome.
Oculocerebrorenal Syndrome
Kidney Tubular Ablation of
Oculocerebrorenal Syndrome
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
Oculocerebrorenal Syndrome
Loss of OCRL increases ciliary PI(4,5)P2 in oculocerebrorenal syndrome of Lowe.
Oculocerebrorenal Syndrome
Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.
Oculocerebrorenal Syndrome
Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network.
Oculocerebrorenal Syndrome
Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.
Oculocerebrorenal Syndrome
Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.
Oculocerebrorenal Syndrome
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
Oculocerebrorenal Syndrome
Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus.
Oculocerebrorenal Syndrome
Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL in Dictyostelium discoideum.
Oculocerebrorenal Syndrome
Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling.
Oculocerebrorenal Syndrome
Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.
Oculocerebrorenal Syndrome
Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases.
Oculocerebrorenal Syndrome
Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.
Oculocerebrorenal Syndrome
Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.
Oculocerebrorenal Syndrome
Mutations in OCRL1 gene in Indian children with Lowe syndrome.
Oculocerebrorenal Syndrome
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.
Oculocerebrorenal Syndrome
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.
Oculocerebrorenal Syndrome
Novel mutation of OCRL1 in Lowe syndrome.
Oculocerebrorenal Syndrome
Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.
Oculocerebrorenal Syndrome
Novel OCRL1 mutations in patients with the phenotype of Dent disease.
Oculocerebrorenal Syndrome
OCRL Deficiency Impairs Endolysosomal Function in a Humanized Mouse Model for Lowe Syndrome and Dent Disease.
Oculocerebrorenal Syndrome
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Oculocerebrorenal Syndrome
OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates.
Oculocerebrorenal Syndrome
OCRL1 function in renal epithelial membrane traffic.
Oculocerebrorenal Syndrome
OCRL1 Modulates Cilia Length in Renal Epithelial Cells.
Oculocerebrorenal Syndrome
OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.
Oculocerebrorenal Syndrome
OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability.
Oculocerebrorenal Syndrome
Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells.
Oculocerebrorenal Syndrome
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Oculocerebrorenal Syndrome
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.
Oculocerebrorenal Syndrome
Phosphatidylinositol 4-kinases and PI4P metabolism in the nervous system: roles in psychiatric and neurological diseases.
Oculocerebrorenal Syndrome
Phosphatidylinositol signalling reactions.
Oculocerebrorenal Syndrome
Phosphoinositide signaling disorders in human diseases.
Oculocerebrorenal Syndrome
Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.
Oculocerebrorenal Syndrome
Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis.
Oculocerebrorenal Syndrome
Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study.
Oculocerebrorenal Syndrome
Primary cilia signaling mediates intraocular pressure sensation.
Oculocerebrorenal Syndrome
PTEN reduces endosomal PtdIns(4,5)P2 in a phosphatase-independent manner via a PLC pathway.
Oculocerebrorenal Syndrome
Recognition of the F&H motif by the Lowe syndrome protein OCRL.
Oculocerebrorenal Syndrome
Regulation of phagocytosis in Dictyostelium by the inositol 5-phosphatase OCRL homolog Dd5P4.
Oculocerebrorenal Syndrome
Renal manifestations of Dent disease and Lowe syndrome.
Oculocerebrorenal Syndrome
Role of Ocrl1 in primary cilia assembly.
Oculocerebrorenal Syndrome
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
Oculocerebrorenal Syndrome
Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.
Oculocerebrorenal Syndrome
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
Oculocerebrorenal Syndrome
Structure and function of the Lowe syndrome protein OCRL1.
Oculocerebrorenal Syndrome
Targeting of the type II inositol polyphosphate 5-phosphatase INPP5B to the early secretory pathway.
Oculocerebrorenal Syndrome
The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1.
Oculocerebrorenal Syndrome
The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.
Oculocerebrorenal Syndrome
The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.
Oculocerebrorenal Syndrome
The enemy of my enemy: PTEN and PLCXD collude to fight endosomal PtdIns(4,5)P2.
Oculocerebrorenal Syndrome
The inositol 5-phosphatase dOCRL controls PI(4,5)P2 homeostasis and is necessary for cytokinesis.
Oculocerebrorenal Syndrome
The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin.
Oculocerebrorenal Syndrome
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.
Oculocerebrorenal Syndrome
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.
Oculocerebrorenal Syndrome
The oculocerebrorenal syndrome of Lowe: an update.
Oculocerebrorenal Syndrome
The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.
Oculocerebrorenal Syndrome
The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.
Oculocerebrorenal Syndrome
The unexpected role of Drosophila OCRL during cytokinesis.
Oculocerebrorenal Syndrome
Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.
Oculocerebrorenal Syndrome
Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.
Oculocerebrorenal Syndrome
Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation.
Oculocerebrorenal Syndrome
[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
Osteoarthritis
Down-regulation of Rac GTPase-activating protein OCRL1 causes aberrant activation of Rac1 in osteoarthritis development.
Osteoporosis
SHIP1 negatively regulates proliferation of osteoclast precursors via Akt-dependent alterations in D-type cyclins and p27.
Osteosarcoma
ZIC2 promotes viability and invasion of human osteosarcoma cells by suppressing SHIP2 expression and activating PI3K/AKT pathways.
Paralysis
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Parkinson Disease
'Atypical' Parkinson's disease - genetic.
Parkinson Disease
A network view on Parkinson's disease.
Parkinson Disease
A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease.
Parkinson Disease
A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.
Parkinson Disease
A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.
Parkinson Disease
Absence of Sac2/INPP5F enhances the phenotype of a Parkinson's disease mutation of synaptojanin 1.
Parkinson Disease
Arf6 and the 5'phosphatase of Synaptojanin 1 regulate autophagy in cone photoreceptors.
Parkinson Disease
Arf6 and the 5'phosphatase of synaptojanin 1 regulate autophagy in cone photoreceptors.
Parkinson Disease
Asparagine endopeptidase cleaves synaptojanin 1 and triggers synaptic dysfunction in Parkinson's disease.
Parkinson Disease
Clonazepam improves the symptoms of two siblings with novel variants in the SYNJ1 gene.
Parkinson Disease
Genes Implicated in Familial Parkinson's Disease Provide a Dual Picture of Nigral Dopaminergic Neurodegeneration with Mitochondria Taking Center Stage.
Parkinson Disease
Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
Parkinson Disease
Presynaptic endocytic factors in autophagy and neurodegeneration.
Parkinson Disease
Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
Parkinson Disease
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Parkinson Disease
Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in mice.
Parkinson Disease
The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease.
Parkinson Disease
The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals.
Parkinsonian Disorders
'Atypical' Parkinson's disease - genetic.
Parkinsonian Disorders
Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.
Parkinsonian Disorders
Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes.
Parkinsonian Disorders
Genetics of Parkinson's disease--state of the art, 2013.
Parkinsonian Disorders
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Parkinsonian Disorders
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.
Parkinsonian Disorders
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Parkinsonian Disorders
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism.
Parkinsonian Disorders
Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
Parkinsonian Disorders
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Parkinsonian Disorders
Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers.
Parkinsonian Disorders
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
Parkinsonian Disorders
PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts.
Parkinsonian Disorders
Synaptojanin1 deficiency upregulates basal autophagosome formation in astrocytes.
Parkinsonian Disorders
Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in mice.
Parkinsonian Disorders
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures.
Pericardial Effusion
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Perinatal Death
The lipid phosphatase SHIP2 controls insulin sensitivity.
Peripheral Nervous System Diseases
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
phosphoinositide 5-phosphatase deficiency
Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1.
phosphoinositide 5-phosphatase deficiency
Differential Lyn-dependence of the SHIP1-deficient mast cell phenotype.
phosphoinositide 5-phosphatase deficiency
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.
phosphoinositide 5-phosphatase deficiency
Inpp5e increases the Rab5 association and phosphatidylinositol 3-phosphate accumulation at the phagosome through an interaction with Rab20.
phosphoinositide 5-phosphatase deficiency
Loss of PI(4,5)P2 5-Phosphatase A Contributes to Resistance of Human Melanoma Cells to RAF/MEK Inhibitors.
phosphoinositide 5-phosphatase deficiency
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
phosphoinositide 5-phosphatase deficiency
Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.
phosphoinositide 5-phosphatase deficiency
SHIP1 Deficiency in Inflammatory Bowel Disease Is Associated With Severe Crohn's Disease and Peripheral T Cell Reduction.
phosphoinositide 5-phosphatase deficiency
SHIP1 Intrinsically Regulates NK Cell Signaling and Education, Resulting in Tolerance of an MHC Class I-Mismatched Bone Marrow Graft in Mice.
phosphoinositide 5-phosphatase deficiency
SHIP1-Expressing Mesenchymal Stem Cells Regulate Hematopoietic Stem Cell Homeostasis and Lineage Commitment During Aging.
phosphoinositide 5-phosphatase deficiency
SHIPi Enhances Autologous and Allogeneic Hematolymphoid Stem Cell Transplantation.
phosphoinositide 5-phosphatase deficiency
Synaptojanin1 deficiency upregulates basal autophagosome formation in astrocytes.
phosphoinositide 5-phosphatase deficiency
Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in mice.
phosphoinositide 5-phosphatase deficiency
The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.
phosphoinositide 5-phosphatase deficiency
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.
phosphoinositide 5-phosphatase deficiency
The role of Arabidopsis 5PTase13 in root gravitropism through modulation of vesicle trafficking.
Pneumonia
Characterization of AQX-1125, a small-molecule SHIP1 activator: Part 2. Efficacy studies in allergic and pulmonary inflammation models in vivo.
Pneumonia
Impaired T-cell survival promotes mucosal inflammatory disease in SHIP1-deficient mice.
Polycystic Kidney Diseases
?-catenin ablation exacerbates polycystic kidney disease progression.
Polycystic Kidney Diseases
Apical PtdIns(4,5)P2 is required for ciliogenesis and suppression of polycystic kidney disease.
Polycystic Kidney Diseases
Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling.
Polydactyly
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Polydactyly
INPP5E regulates phosphoinositide-dependent cilia transition zone function.
Polydactyly
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
Polymicrogyria
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Inactivation of SHIP1 in T-cell acute lymphoblastic leukemia due to mutation and extensive alternative splicing.
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Inactivation of SHIP1 in T-cell acute lymphoblastic leukemia due to mutation and extensive alternative splicing.
Prostatic Neoplasms
Antiapoptotic signaling in LNCaP prostate cancer cells: a survival signaling pathway independent of phosphatidylinositol 3'-kinase and Akt/protein kinase B.
Prostatic Neoplasms
Multiple defects in negative regulation of the PKB/Akt pathway sensitise human cancer cells to the antiproliferative effect of non-steroidal anti-inflammatory drugs.
Proteinuria
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Proteinuria
Lipid phosphatase SHIP2 downregulates insulin signalling in podocytes.
Proteinuria
Phenotype of Dent Disease in a Cohort of Indian Children.
Proteinuria
Role of dynamin, synaptojanin, and endophilin in podocyte foot processes.
Proteinuria
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.
Pulmonary Fibrosis
AQX-1125, small molecule SHIP1 activator inhibits bleomycin-induced pulmonary fibrosis.
Renal Insufficiency
?-catenin ablation exacerbates polycystic kidney disease progression.
Renal Insufficiency
Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling.
Renal Insufficiency
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.
Renal Insufficiency
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Renal Insufficiency
Phenotype of Dent Disease in a Cohort of Indian Children.
Retinal Dystrophies
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Retinal Dystrophies
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.
Retinitis Pigmentosa
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Sarcoma
SHIP1 inhibits cell growth, migration, and invasion in non?small cell lung cancer through the PI3K/AKT pathway.
Seizures
A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.
Seizures
Clonazepam improves the symptoms of two siblings with novel variants in the SYNJ1 gene.
Seizures
Impaired neural development in a zebrafish model for Lowe syndrome.
Seizures
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Seizures
Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
Seizures
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Seizures
Synaptojanin1 deficiency upregulates basal autophagosome formation in astrocytes.
Seizures
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Seizures
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures.
Spasms, Infantile
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Spondylitis, Ankylosing
RAB5C, SYNJ1, and RNF19B promote male ankylosing spondylitis by regulating immune cell infiltration.
Squamous Cell Carcinoma of Head and Neck
Prognostic value of elevated SHIP2 expression in laryngeal squamous cell carcinoma.
Starvation
Interaction of the WD40 domain of a myoinositol polyphosphate 5-phosphatase with SnRK1 links inositol, sugar, and stress signaling.
Stomach Neoplasms
Circulating SHIP2 mRNA as a novel biomarker in the diagnosis and prognosis of gastric cancer.
Stomach Neoplasms
Decreased Sp1 Expression Mediates Downregulation of SHIP2 in Gastric Cancer Cells.
Stomach Neoplasms
IQGAP2 Inhibits Migration and Invasion of Gastric Cancer Cells via Elevating SHIP2 Phosphatase Activity.
Stomach Neoplasms
Suppression of SHIP2 contributes to tumorigenesis and proliferation of gastric cancer cells via activation of Akt.
Stomach Neoplasms
Upregulation of SHIP2 participates in the development of breast cancer via promoting Wnt/?-catenin signaling.
Tauopathies
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
Tauopathies
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Thrombosis
Class I PI 3-kinases signaling in platelet activation and thrombosis: PDK1/Akt/GSK3 axis and impact of PTEN and SHIP1.
Thrombosis
Deficiency of Src homology 2 domain-containing inositol 5-phosphatase 1 affects platelet responses and thrombus growth.
Tuberculosis
A new family of phosphoinositide phosphatases in microorganisms: identification and biochemical analysis.
Uterine Cervical Neoplasms
SHIP2 inhibition alters redox-induced PI3K/AKT and MAP kinase pathways via PTEN over-activation in cervical cancer cells.
Vaccinia
The host phosphoinositide 5-phosphatase SHIP2 regulates dissemination of vaccinia virus.
Virus Diseases
Induction of an Alternative mRNA 5' Leader Enhances Translation of the Ciliopathy Gene Inpp5e and Resistance to Oncolytic Virus Infection.
Wiskott-Aldrich Syndrome
Impairing actin filament or syndapin functions promotes accumulation of clathrin-coated vesicles at the apical plasma membrane of acinar epithelial cells.
Wiskott-Aldrich Syndrome
SNX18 shares a redundant role with SNX9 and modulates endocytic trafficking at the plasma membrane.
Wiskott-Aldrich Syndrome
Syndapin isoforms participate in receptor-mediated endocytosis and actin organization.
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