Any feedback?
Please rate this page
(enzyme.php)
(0/150)

BRENDA support

Disease on EC 2.1.1.357 - [histone H3]-lysine36 N-dimethyltransferase

Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma
High-resolution genomic profiles of human lung cancer.
PPAPDC1B and WHSC1L1 Are Common Drivers of the 8p11-12 Amplicon, Not Only in Breast Tumors But also in Pancreatic Adenocarcinomas and Lung Tumors.
The histone methyltransferase and putative oncoprotein MMSET is overexpressed in a large variety of human tumors.
Bone Diseases
Insulin like growth factor binding protein 7 (IGFBP7) expression is linked to poor prognosis but may protect from bone disease in multiple myeloma.
Breast Neoplasms
Amplification of WHSC1L1 regulates expression and estrogen-independent activation of ER? in SUM-44 breast cancer cells and is associated with ER? over-expression in breast cancer.
An epigenomic approach to therapy for tamoxifen-resistant breast cancer.
Downregulation of MMSET impairs breast cancer proliferation and metastasis through inhibiting Wnt/?-catenin signaling.
EZH2 and MMSET Were Identified as Potentially Useful Therapeutic Targets in Metaplastic Breast Carcinoma.
High WHSC1L1 Expression Reduces Survival Rates in Operated Breast Cancer Patients with Decreased CD8+ T Cells: Machine Learning Approach.
Metnase mediates resistance to topoisomerase II inhibitors in breast cancer cells.
PPAPDC1B and WHSC1L1 Are Common Drivers of the 8p11-12 Amplicon, Not Only in Breast Tumors But also in Pancreatic Adenocarcinomas and Lung Tumors.
Transforming properties of 8p11-12 amplified genes in human breast cancer.
WHSC1 promotes wnt/?-catenin signaling in a FoxM1-dependent manner facilitating proliferation, invasion and epithelial-mesenchymal transition in breast cancer.
Carcinogenesis
Characterization of the EZH2-MMSET histone methyltransferase regulatory axis in cancer.
Epigenetic activation of WHSC1 functions as an oncogene and is associated with poor prognosis in cervical cancer.
High-throughput screening with nucleosome substrate identifies small-molecule inhibitors of the human histone lysine methyltransferase NSD2.
Histone methyltransferase MMSET/NSD2 alters EZH2 binding and reprograms the myeloma epigenome through global and focal changes in H3K36 and H3K27 methylation.
Histone methyltransferase WHSC1 inhibits colorectal cancer cell apoptosis via targeting anti-apoptotic BCL2.
Knockdown of Histone Methyltransferase WHSC1 Induces Apoptosis and Inhibits Cell Proliferation and Tumorigenesis in Salivary Adenoid Cystic Carcinoma.
MMSET I acts as an oncoprotein and regulates GLO1 expression in t(4;14) multiple myeloma cells.
The histone methyltransferase and putative oncoprotein MMSET is overexpressed in a large variety of human tumors.
The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis.
WHSC1 promotes oncogenesis through regulation of NIMA-related kinase-7 in squamous cell carcinoma of the head and neck.
Carcinoma
Inhibitory effect of microRNA-154 targeting WHSC1 on cell proliferation of human skin squamous cell carcinoma through mediating the P53 signaling pathway.
Knockdown of Histone Methyltransferase WHSC1 Induces Apoptosis and Inhibits Cell Proliferation and Tumorigenesis in Salivary Adenoid Cystic Carcinoma.
Overexpression of multiple myeloma SET domain (MMSET) is associated with advanced tumor aggressiveness and poor prognosis in serous ovarian carcinoma.
The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
The histone methyltransferase and putative oncoprotein MMSET is overexpressed in a large variety of human tumors.
The histone methyltransferase WHSC1 is regulated by EZH2 and is important for ovarian clear cell carcinoma cell proliferation.
The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis.
WHSC1 monomethylates histone H1 and induces stem-cell like features in squamous cell carcinoma of the head and neck.
WHSC1 promotes oncogenesis through regulation of NIMA-related kinase-7 in squamous cell carcinoma of the head and neck.
WHSC1L1 drives cell cycle progression through transcriptional regulation of CDC6 and CDK2 in squamous cell carcinoma of the head and neck.
Carcinoma, Adenoid Cystic
Knockdown of Histone Methyltransferase WHSC1 Induces Apoptosis and Inhibits Cell Proliferation and Tumorigenesis in Salivary Adenoid Cystic Carcinoma.
Carcinoma, Hepatocellular
Overexpression of MMSET is Correlation with Poor Prognosis in Hepatocellular Carcinoma.
WHSC1 Promotes Cell Proliferation, Migration, and Invasion in Hepatocellular Carcinoma by Activating mTORC1 Signaling.
Carcinoma, Non-Small-Cell Lung
CircRNA WHSC1 promotes non-small cell lung cancer progression via sponging microRNA-296-3p and up-regulating expression of AKT serine/threonine kinase 3.
Carcinoma, Squamous Cell
Inhibitory effect of microRNA-154 targeting WHSC1 on cell proliferation of human skin squamous cell carcinoma through mediating the P53 signaling pathway.
The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
WHSC1 monomethylates histone H1 and induces stem-cell like features in squamous cell carcinoma of the head and neck.
WHSC1 promotes oncogenesis through regulation of NIMA-related kinase-7 in squamous cell carcinoma of the head and neck.
WHSC1L1 drives cell cycle progression through transcriptional regulation of CDC6 and CDK2 in squamous cell carcinoma of the head and neck.
Chagas Disease
Antiproliferative effects of delta 24(25) sterol methyl transferase inhibitors on Trypanosoma (Schizotrypanum) cruzi: in vitro and in vivo studies.
Chondroblastoma
The histone H3.3K36M mutation reprograms the epigenome of chondroblastomas.
Cleft Palate
Retinoic acid inhibits histone methyltransferase Whsc1 during palatogenesis.
Colonic Neoplasms
Histone methyltransferase WHSC1 inhibits colorectal cancer cell apoptosis via targeting anti-apoptotic BCL2.
Multiple myeloma driving factor WHSC1 is a transcription target of oncogene HMGA2 that facilitates colon cancer proliferation and metastasis.
Potential role for the Metnase transposase fusion gene in colon cancer through the regulation of key genes.
Study of the interaction among Notch pathway receptors, correlation with stemness, as well as their interaction with CD44, dipeptidyl peptidase-IV, hepatocyte growth factor receptor and the SETMAR transferase, in colon cancer stem cells.
The histone methyltransferase and putative oncoprotein MMSET is overexpressed in a large variety of human tumors.
Colorectal Neoplasms
Histone methyltransferase WHSC1 inhibits colorectal cancer cell apoptosis via targeting anti-apoptotic BCL2.
Dementia
Comparison of in-person and telephone administration of the Mini-Mental State Examination in the University of Alabama at Birmingham Study of Aging.
Dwarfism
H3K36 methylation is critical for brassinosteroid-regulated plant growth and development in rice.
Endometrial Neoplasms
CircRNA WHSC1 targets the miR-646/NPM1 pathway to promote the development of endometrial cancer.
miR-34a, miR-424 and miR-513 inhibit MMSET expression to repress endometrial cancer cell invasion and sphere formation.
Overexpression of MMSET in endometrial cancer: A clinicopathologic study.
Glioblastoma
MMSET is overexpressed in cancers: link with tumor aggressiveness.
Glioma
Identification of a novel proliferation-related protein, WHSC1 4a, in human gliomas.
Head and Neck Neoplasms
WHSC1L1 drives cell cycle progression through transcriptional regulation of CDC6 and CDK2 in squamous cell carcinoma of the head and neck.
Heart Defects, Congenital
Epigenetic mechanisms in cardiac development and disease.
Hematologic Neoplasms
SETD2 deficiency accelerates MDS-associated leukemogenesis via S100a9 in NHD13 mice and predicts poor prognosis in MDS.
Hypersensitivity
Metnase promotes restart and repair of stalled and collapsed replication forks.
Infections
Expression levels of the human DNA repair protein metnase influence lentiviral genomic integration.
Genome-wide DNA methylation analysis during non-alcoholic steatohepatitis-related multistage hepatocarcinogenesis: comparison with hepatitis virus-related carcinogenesis.
Optimal ratio of transcription factors for somatic cell reprogramming.
Infertility
Evaluation of polymorphisms in predicted target sites for micro-RNAs differentially expressed in endometriosis.
Intellectual Disability
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.
Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.
Mutation spectra of histone methyltransferases with canonical SET domains and EZH2-targeted therapy.
Kidney Neoplasms
Variation in chromatin accessibility in human kidney cancer links H3K36 methyltransferase loss with widespread RNA processing defects.
Language Development Disorders
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn syndrome.
Leukemia
Metnase mediates chromosome decatenation in acute leukemia cells.
Setd2 deficiency impairs hematopoietic stem cell self-renewal and causes malignant transformation.
The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts.
Leukemia, Myeloid, Acute
Metnase mediates chromosome decatenation in acute leukemia cells.
The enigma of ectopic expression of FGFR3 in multiple myeloma: a critical initiating event or just a target for mutational activation during tumor progression.
Liver Neoplasms
The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis.
Lung Neoplasms
CircRNA WHSC1 promotes non-small cell lung cancer progression via sponging microRNA-296-3p and up-regulating expression of AKT serine/threonine kinase 3.
Fragment-based discovery of a chemical probe for the PWWP1 domain of NSD3.
High-resolution genomic profiles of human lung cancer.
Histone lysine methyltransferase Wolf-Hirschhorn syndrome candidate 1 is involved in human carcinogenesis through regulation of the Wnt pathway.
PPAPDC1B and WHSC1L1 Are Common Drivers of the 8p11-12 Amplicon, Not Only in Breast Tumors But also in Pancreatic Adenocarcinomas and Lung Tumors.
Lymphatic Metastasis
Overexpression of MMSET in endometrial cancer: A clinicopathologic study.
Lymphoma
The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells.
Lymphoma, Mantle-Cell
The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells.
Microcephaly
109?kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Multiple Myeloma
"Snorkeling" for missing players in cancer.
A novel functional role for MMSET in RNA processing based on the link between the REIIBP isoform and its interaction with the SMN complex.
A Scalable Platform for Producing Recombinant Nucleosomes with Codified Histone Methyltransferase Substrate Preferences.
Correlation of TACC3, FGFR3, MMSET and p21 expression with the t(4;14)(p16.3;q32) in multiple myeloma.
Ectopic expression of wild-type FGFR3 cooperates with MYC to accelerate development of B-cell lineage neoplasms.
FGFR3 dysregulation in multiple myeloma: frequency and prognostic relevance.
H3K36 dimethylation by MMSET promotes classical non-homologous end-joining at unprotected telomeres.
Histone methyltransferase MMSET/NSD2 alters EZH2 binding and reprograms the myeloma epigenome through global and focal changes in H3K36 and H3K27 methylation.
Hypoxia-induced CREB cooperates MMSET to modify chromatin and promote DKK1 expression in multiple myeloma.
Identification of ID-1 as a potential target gene of MMSET in multiple myeloma.
Impact of genes highly correlated with MMSET myeloma on survival of Non-MMSET myeloma patients.
In multiple myeloma, 14q32 translocations are nonrandom chromosomal fusions driving high expression levels of the respective partner genes.
MB4-2 breakpoint in MMSET combined with del(17p) defines a subset of t(4;14) multiple myeloma with very poor prognosis.
Metformin elicits antitumor effects and downregulates the histone methyltransferase multiple myeloma SET domain (MMSET) in prostate cancer cells.
MMSET deregulation affects cell cycle progression and adhesion regulons in t(4;14) myeloma plasma cells.
MMSET I acts as an oncoprotein and regulates GLO1 expression in t(4;14) multiple myeloma cells.
MMSET is highly expressed and associated with aggressiveness in neuroblastoma.
MMSET is overexpressed in cancers: link with tumor aggressiveness.
MMSET: role and therapeutic opportunities in multiple myeloma.
Multiple myeloma driving factor WHSC1 is a transcription target of oncogene HMGA2 that facilitates colon cancer proliferation and metastasis.
Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress.
NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines.
Nucleosome Binding Alters the Substrate Bonding Environment of Histone H3 Lysine 36 Methyltransferase NSD2.
Overexpression of MMSET is Correlation with Poor Prognosis in Hepatocellular Carcinoma.
Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients.
Plasma membrane proteomics identifies biomarkers associated with MMSET overexpression in T(4;14) multiple myeloma.
Targeting FGFR3 in multiple myeloma: inhibition of t(4;14)-positive cells by SU5402 and PD173074.
The enigma of ectopic expression of FGFR3 in multiple myeloma: a critical initiating event or just a target for mutational activation during tumor progression.
The histone methyltransferase and putative oncoprotein MMSET is overexpressed in a large variety of human tumors.
The MMSET histone methyl transferase switches global histone methylation and alters gene expression in t(4;14) multiple myeloma cells.
The MMSET protein is a histone methyltransferase with characteristics of a transcriptional corepressor.
The multiple myeloma associated MMSET gene contributes to cellular adhesion, clonogenic growth, and tumorigenicity.
Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma.
Unabridged Analysis of Human Histone H3 by Differential Top-Down Mass Spectrometry Reveals Hypermethylated Proteoforms from MMSET/NSD2 Overexpression.
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.
Myelodysplastic Syndromes
SETD2 deficiency accelerates MDS-associated leukemogenesis via S100a9 in NHD13 mice and predicts poor prognosis in MDS.
Neoplasm Metastasis
AKT-mediated stabilization of histone methyltransferase WHSC1 promotes prostate cancer metastasis.
Downregulation of MMSET impairs breast cancer proliferation and metastasis through inhibiting Wnt/?-catenin signaling.
MiR-2392 suppresses metastasis and epithelial-mesenchymal transition by targeting MAML3 and WHSC1 in gastric cancer.
miR-34a, miR-424 and miR-513 inhibit MMSET expression to repress endometrial cancer cell invasion and sphere formation.
Multiple myeloma driving factor WHSC1 is a transcription target of oncogene HMGA2 that facilitates colon cancer proliferation and metastasis.
Overexpression of MMSET in endometrial cancer: A clinicopathologic study.
Re: AKT-Mediated Stabilization of Histone Methyltransferase WHSC1 Promotes Prostate Cancer Metastasis.
WHSC1 promotes wnt/?-catenin signaling in a FoxM1-dependent manner facilitating proliferation, invasion and epithelial-mesenchymal transition in breast cancer.
Neoplasms
A high-risk signature for patients with multiple myeloma established from the molecular classification of human myeloma cell lines.
AKT-mediated stabilization of histone methyltransferase WHSC1 promotes prostate cancer metastasis.
Amplification of WHSC1L1 regulates expression and estrogen-independent activation of ER? in SUM-44 breast cancer cells and is associated with ER? over-expression in breast cancer.
An atlas of transposable element-derived alternative splicing in cancer.
Bisphenol A and Phthalates Modulate Peritoneal Macrophage Function in Female Mice Involving SYMD2-H3K36 Dimethylation.
Distinct roles of structure-specific endonucleases EEPD1 and Metnase in replication stress responses.
Ectopic expression of wild-type FGFR3 cooperates with MYC to accelerate development of B-cell lineage neoplasms.
Epigenetic activation of WHSC1 functions as an oncogene and is associated with poor prognosis in cervical cancer.
Exome sequencing of bilateral testicular germ cell tumors suggests independent development lineages.
Exome-wide mutation profile in benzo[a]pyrene-derived post-stasis and immortal human mammary epithelial cells.
Frequent HPV-independent p16/INK4A overexpression in head and neck cancer.
Histone lysine methyltransferase Wolf-Hirschhorn syndrome candidate 1 is involved in human carcinogenesis through regulation of the Wnt pathway.
Histone methyltransferase MMSET/NSD2 alters EZH2 binding and reprograms the myeloma epigenome through global and focal changes in H3K36 and H3K27 methylation.
Histone methyltransferase SETD2 inhibits tumor growth via suppressing CXCL1-mediated activation of cell cycle in lung adenocarcinoma.
HIV?1 integrase inhibitors targeting various DDE transposases: Retroviral integration versus RAG?mediated recombination (Review).
Identification of a novel proliferation-related protein, WHSC1 4a, in human gliomas.
Identification of a peptide inhibitor for the histone methyltransferase WHSC1.
Identification of ID-1 as a potential target gene of MMSET in multiple myeloma.
Inhibition of WHSC1 Allows for Reprogramming of the Immune Compartment in Prostate Cancer.
Landscape of somatic mutations and clonal evolution in mantle cell lymphoma.
Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf-Hirschhorn syndrome candidate 1/Twist pathway.
Malignant hematological disorders in children with Wolf-Hirschhorn syndrome.
Methylation of Aurora kinase A by MMSET reduces p53 stability and regulates cell proliferation and apoptosis.
Metnase/SETMAR: a domesticated primate transposase that enhances DNA repair, replication, and decatenation.
miR-34a, miR-424 and miR-513 inhibit MMSET expression to repress endometrial cancer cell invasion and sphere formation.
MMSET is dynamically regulated during cell-cycle progression and promotes normal DNA replication.
MMSET is highly expressed and associated with aggressiveness in neuroblastoma.
MMSET is overexpressed in cancers: link with tumor aggressiveness.
MMSET stimulates myeloma cell growth through microRNA-mediated modulation of c-MYC.
MMSET/WHSC1 enhances DNA damage repair leading to an increase in resistance to chemotherapeutic agents.
Multiple myeloma driving factor WHSC1 is a transcription target of oncogene HMGA2 that facilitates colon cancer proliferation and metastasis.
Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress.
Mutation spectra of histone methyltransferases with canonical SET domains and EZH2-targeted therapy.
Mutational Landscape of Pediatric Acute Lymphoblastic Leukemia.
Neoamphimedine circumvents metnase-enhanced DNA topoisomerase II? activity through ATP-competitive inhibition.
Nucleosome Binding Alters the Substrate Bonding Environment of Histone H3 Lysine 36 Methyltransferase NSD2.
Overexpression of MMSET is Correlation with Poor Prognosis in Hepatocellular Carcinoma.
Potential role for the Metnase transposase fusion gene in colon cancer through the regulation of key genes.
PPAPDC1B and WHSC1L1 Are Common Drivers of the 8p11-12 Amplicon, Not Only in Breast Tumors But also in Pancreatic Adenocarcinomas and Lung Tumors.
Prognostic significance of epigenetic regulatory gene expression in patients with non-small-cell lung cancer.
Secondary genomic rearrangements involving immunoglobulin or MYC loci show similar prevalences in hyperdiploid and nonhyperdiploid myeloma tumors.
Setd2 deficiency impairs hematopoietic stem cell self-renewal and causes malignant transformation.
Targeted Next-Generation Sequencing Identifies Actionable Targets in Estrogen Receptor Positive and Estrogen Receptor Negative Endometriod Endometrial Cancer.
Targeting the transposase domain of the DNA repair component Metnase to enhance chemotherapy.
The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
The enigma of ectopic expression of FGFR3 in multiple myeloma: a critical initiating event or just a target for mutational activation during tumor progression.
The histone methyltransferase and putative oncoprotein MMSET is overexpressed in a large variety of human tumors.
The histone methyltransferase MMSET/WHSC1 activates TWIST1 to promote an epithelial-mesenchymal transition and invasive properties of prostate cancer.
The histone methyltransferase Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is involved in human carcinogenesis.
The multiple myeloma associated MMSET gene contributes to cellular adhesion, clonogenic growth, and tumorigenicity.
The SET and transposase domain protein Metnase enhances chromosome decatenation: regulation by automethylation.
WHSC1 Promotes Cell Proliferation, Migration, and Invasion in Hepatocellular Carcinoma by Activating mTORC1 Signaling.
WHSC1 promotes wnt/?-catenin signaling in a FoxM1-dependent manner facilitating proliferation, invasion and epithelial-mesenchymal transition in breast cancer.
WHSC1/NSD2 regulates immune infiltration in prostate cancer.
WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3.
Wolf-Hirschhorn Syndrome Candidate 1 (whsc1) Functions as a Tumor Suppressor by Governing Cell Differentiation.
Nephrosis
Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression.
Neuroblastoma
MMSET is highly expressed and associated with aggressiveness in neuroblastoma.
Ovarian Neoplasms
E2F2 induces MCM4, CCNE2 and WHSC1 upregulation in ovarian cancer and predicts poor overall survival.
Prostatic Neoplasms
AKT-mediated stabilization of histone methyltransferase WHSC1 promotes prostate cancer metastasis.
Histone methyltransferase NSD2/MMSET mediates constitutive NF-?B signaling for cancer cell proliferation, survival, and tumor growth via a feed-forward loop.
Inhibition of WHSC1 Allows for Reprogramming of the Immune Compartment in Prostate Cancer.
Integrated Analysis of Genetic Abnormalities of the Histone Lysine Methyltransferases in Prostate Cancer.
Re: AKT-Mediated Stabilization of Histone Methyltransferase WHSC1 Promotes Prostate Cancer Metastasis.
Small Cell Lung Carcinoma
The histone methyltransferase and putative oncoprotein MMSET is overexpressed in a large variety of human tumors.
Starvation
Regulation of Epigenetic Modifiers, Including KDM6B, by Interferon-? and Interleukin-4 in Human Macrophages.
Stomach Neoplasms
Differential effect of MMSET mRNA levels on survival to first-line FOLFOX and second-line docetaxel in gastric cancer.
MiR-2392 suppresses metastasis and epithelial-mesenchymal transition by targeting MAML3 and WHSC1 in gastric cancer.
Urinary Bladder Neoplasms
The histone methyltransferase and putative oncoprotein MMSET is overexpressed in a large variety of human tumors.
Uterine Cervical Neoplasms
Epigenetic activation of WHSC1 functions as an oncogene and is associated with poor prognosis in cervical cancer.
WHSC1 acts as a prognostic indicator and functions as an oncogene in cervical cancer.
Wolf-Hirschhorn Syndrome
109?kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome.
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn syndrome.
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.
Functional characterization of the zebrafish WHSC1-related gene, a homolog of human NSD2.
H3K36 dimethylation by MMSET promotes classical non-homologous end-joining at unprotected telomeres.
Identification of miR-2400 gene as a novel regulator in skeletal muscle satellite cells proliferation by targeting MYOG gene.
Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.
MMSET is overexpressed in cancers: link with tumor aggressiveness.
NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines.
Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.
The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation?
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.
Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage.
[Prenatal diagnosis of a case with 46,XX,del(4),dup(21)].
[histone h3]-lysine36 n-dimethyltransferase deficiency
The histone methyltransferase MMSET regulates class switch recombination.