Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
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Modifiers and Readers of DNA Modifications and Their Impact on Genome Structure, Expression, and Stability in DiseaseEpigenetic Effect of Environmental Factors on Autism Spectrum DisordersShort and tall stature: a new paradigm emergesAbnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunctionA novel mutation in EED associated with overgrowthATRX tolerates activity-dependent histone H3 methyl/phos switching to maintain repetitive element silencing in neuronsNeurodevelopmental Disorders and Environmental Toxicants: Epigenetics as an Underlying MechanismThe Crucial Role of DNA Methylation and MeCP2 in Neuronal FunctionEZH1 and EZH2 promote skeletal growth by repressing inhibitors of chondrocyte proliferation and hypertrophyDNMT3A in haematological malignancies.Dnmt3a in Sim1 neurons is necessary for normal energy homeostasisInsights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.Neuroepigenomics: Resources, Obstacles, and Opportunities.Epigenomic-basis of Preemptive Medicine for Neurodevelopmental DisordersReading the unique DNA methylation landscape of the brain: Non-CpG methylation, hydroxymethylation, and MeCP2.Engineering of a Histone-Recognition Domain in Dnmt3a Alters the Epigenetic Landscape and Phenotypic Features of Mouse ESCs.Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.The Biology of StatureThe landscape of DNA methylation amid a perfect storm of autism aetiologies.Genome-wide characteristics of de novo mutations in autism19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.DNA methylation in the gene body influences MeCP2-mediated gene repression.Biological and biochemical modulation of DNA methylation.Understanding the epigenetics of neurodevelopmental disorders and DOHaD.Genetic alterations of DNA methylation machinery in human diseases.Approach to the Diagnosis of Overgrowth Syndromes.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.Dnmt3a restrains mast cell inflammatory responses.DNMT3A in Leukemia.Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.Epigenetic Mistakes in Neurodevelopmental Disorders.Knockdown of DNA methyltransferase 3a alters gene expression and inhibits function of embryonic cardiomyocytes.OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.EID3 directly associates with DNMT3A during transdifferentiation of human umbilical cord mesenchymal stem cells to NPC-like cells.The Mendelian disorders of the epigenetic machinery.Prader-Willi Syndrome: The Disease that Opened up Epigenomic-Based Preemptive Medicine
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P2860
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Mutations in the DNA methyltra ...... with intellectual disability.
@en
type
label
Mutations in the DNA methyltra ...... with intellectual disability.
@en
prefLabel
Mutations in the DNA methyltra ...... with intellectual disability.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutations in the DNA methyltra ...... e with intellectual disability
@en
P2093
Ajith Kumar
Angelo Selicorni
Blanca Gener
Childhood Overgrowth Consortium
Daniela T Pilz
David Goudie
Elise Ruark
Emma Ramsay
Jenny Harmer
Katrina Tatton-Brown
P2860
P2888
P304
P356
10.1038/NG.2917
P407
P577
2014-03-09T00:00:00Z