Associated Papers
Dominant-negative effects of Weaver syndrome-associated EZH2 variants.
Deevy O et al.
Genes & Development, 2025
QDPR deficiency drives immune suppression in pancreatic cancer.
Liu J et al.
Cell Metabolism, 2024
Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Huang Z et al.
Kidney International Reports, 2023
The engagement of histone lysine methyltransferases with nucleosomes: structural basis, regulatory mechanisms, and therapeutic implications.
Li Y et al.
Protein & Cell, 2023
RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.
Kaisrlikova M et al.
Leukemia, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Karachaliou GS et al.
Bmc Cancer, 2022
Mutational mechanisms of EZH2 inactivation in myeloid neoplasms.
Chase A et al.
Leukemia, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Choufani S et al.
American Journal of Human Genetics, 2020
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.
Cyrus S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Loss of maternal EED results in postnatal overgrowth.
Prokopuk L et al.
Clinical Epigenetics, 2018
Allosteric Activation Dictates PRC2 Activity Independent of Its Recruitment to Chromatin.
Lee CH et al.
Molecular Cell, 2018
Mutation Analysis of Isocitrate Dehydrogenase (IDH1/2) and DNA Methyltransferase 3A (DNMT3A) in Thai Patients with Newly Diagnosed Acute Myeloid Leukemia
Sirirat T et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2017
EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis.
Usemann J et al.
American Journal of Medical Genetics. Part A, 2016
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Cohen AS et al.
Human Mutation, 2016
Molecular and pathological characterization of the EZH2 rs3757441 single nucleotide polymorphism in colorectal cancer.
Fornaro L et al.
Bmc Cancer, 2015
Role of EZH2 polymorphisms in esophageal squamous cell carcinoma risk in Han Chinese population.
Ma ZB et al.
International Journal of Molecular Sciences, 2014
Mutations in EZH2 cause Weaver syndrome.
Gibson WT et al.
American Journal of Human Genetics, 2012
EZH2 mutational status predicts poor survival in myelofibrosis.
Guglielmelli P et al.
Blood, 2011