Disease on EC 4.2.1.152 - hydroperoxy icosatetraenoate dehydratase
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DISEASE 
TITLE OF PUBLICATION
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arachidonate 12-lipoxygenase deficiency
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
Blister
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
Dermatitis, Exfoliative
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.
Dermatitis, Exfoliative
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
Dermatitis, Exfoliative
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.
Dermatitis, Exfoliative
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.
Dermatitis, Exfoliative
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Dermatitis, Exfoliative
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
Epilepsies, Myoclonic
The ALOXE3 gene variants from patients with Dravet syndrome decrease gene expression and enzyme activity.
Epilepsy
The ALOXE3 gene variants from patients with Dravet syndrome decrease gene expression and enzyme activity.
Granuloma
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.
hydroperoxy icosatetraenoate dehydratase deficiency
Aloxe3 Knockout Mice Reveal a Function of Epidermal Lipoxygenase-3 as Hepoxilin Synthase and Its Pivotal Role in Barrier Formation.
hydroperoxy icosatetraenoate dehydratase deficiency
Diminished protein-bound ?-hydroxylated ceramides in the skin of patients with ichthyosis with 12R-lipoxygenase (LOX) or eLOX-3 deficiency.
hydroperoxy icosatetraenoate dehydratase deficiency
miR-18a promotes glioblastoma development by down-regulating ALOXE3-mediated ferroptotic and anti-migration activities.
hydroperoxy icosatetraenoate dehydratase deficiency
Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Hyperalgesia
Systematic analysis of rat 12/15-lipoxygenase enzymes reveals critical role for spinal eLOX3 hepoxilin synthase activity in inflammatory hyperalgesia.
Ichthyosiform Erythroderma, Congenital
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.
Ichthyosiform Erythroderma, Congenital
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
Ichthyosiform Erythroderma, Congenital
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.
Ichthyosiform Erythroderma, Congenital
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.
Ichthyosiform Erythroderma, Congenital
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
Ichthyosis
Aloxe3 Knockout Mice Reveal a Function of Epidermal Lipoxygenase-3 as Hepoxilin Synthase and Its Pivotal Role in Barrier Formation.
Ichthyosis
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.
Ichthyosis
Characterization of Epidermal Lipoxygenase Expression in Normal Human Skin and Tissue-Engineered Skin Substitutes.
Ichthyosis
Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation.
Ichthyosis
Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants.
Ichthyosis
Diminished protein-bound ?-hydroxylated ceramides in the skin of patients with ichthyosis with 12R-lipoxygenase (LOX) or eLOX-3 deficiency.
Ichthyosis
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
Ichthyosis
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
Ichthyosis
Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis.
Ichthyosis
Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders.
Ichthyosis
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Ichthyosis
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Ichthyosis
Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families.
Ichthyosis
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
Ichthyosis
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
Ichthyosis
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
Ichthyosis
The role of lipoxygenases in pathophysiology; new insights and future perspectives.
Ichthyosis
Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.
Ichthyosis, Lamellar
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
Ichthyosis, Lamellar
Lamellar Ichthyosis Caused by a Previously Unreported Homozygous ALOXE3 Mutation in East Asia.
Insulin Resistance
Hepatocyte ALOXE3 is induced during adaptive fasting and enhances insulin sensitivity by activating hepatic PPAR?.
Insulinoma
Biosynthesis of hepoxilins: evidence for the presence of a hepoxilin synthase activity in rat insulinoma cells.
Metabolic Diseases
Hepatocyte ALOXE3 is induced during adaptive fasting and enhances insulin sensitivity by activating hepatic PPAR?.
Neoplasms
miR-18a promotes glioblastoma development by down-regulating ALOXE3-mediated ferroptotic and anti-migration activities.
Pulmonary Disease, Chronic Obstructive
The Perspective of Diagnostic and Prognostic Values of Lipoxygenases mRNA Expression in Colon Adenocarcinoma.
Seizures
Expression Pattern of ALOXE3 in Mouse Brain Suggests Its Relationship with Seizure Susceptibility.
Skin Diseases
ZNF750 Is a p63 Target Gene that Induces KLF4 to Drive Terminal Epidermal Differentiation.
Status Epilepticus
Expression Pattern of ALOXE3 in Mouse Brain Suggests Its Relationship with Seizure Susceptibility.
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