Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
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Human genome sequencing in health and diseaseTranscriptional regulator PRDM12 is essential for human pain perceptionWhole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisModifiers and Readers of DNA Modifications and Their Impact on Genome Structure, Expression, and Stability in DiseaseAge-associated Cognitive Decline: Insights into Molecular Switches and Recovery AvenuesThe Increasing Importance of Gene-Based AnalysesCytosine modifications in neurodevelopment and diseasesDisease gene identification strategies for exome sequencingEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesAbnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunctionMammalian epigenetic mechanismsEpigenetics of Alzheimer's disease and frontotemporal dementiaEpigenetics advancing personalized nanomedicine in cancer therapyThe role of DNA methylation in aging, rejuvenation, and age-related diseaseAn Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog BreedNovel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese familyIdentification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese FamilyGenome-wide loss of 5-hmC is a novel epigenetic feature of Huntington's diseaseThe Arabidopsis thaliana mobilome and its impact at the species levelGenetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric PopulationHearing and music in dementia.HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.Epigenetic regulation in the inner ear and its potential roles in development, protection, and regeneration.Aberrant regulation of DNA methylation in amyotrophic lateral sclerosis: a new target of disease mechanisms.A Meta-Analysis of the Association between DNMT1 Polymorphisms and Cancer Risk.Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathyRelationship of hearing loss and dementia: a prospective, population-based study.The Crucial Role of DNA Methylation and MeCP2 in Neuronal FunctionDNA methylation: an identity card for brain cells.An ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mouseChemical probes targeting epigenetic proteins: Applications beyond oncology.CpG and Non-CpG Methylation in Epigenetic Gene Regulation and Brain FunctionRegulation of histone H3K4 methylation in brain development and disease.Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1EMechanisms of disease in hereditary sensory and autonomic neuropathies.Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.The promise of whole-exome sequencing in medical genetics.The aging signature: a hallmark of induced pluripotent stem cells?Epigenetic mechanisms in schizophrenia.
P2860
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P2860
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
@ast
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
@en
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
@nl
type
label
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
@ast
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
@en
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
@nl
prefLabel
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
@ast
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
@en
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
@nl
P2093
P2860
P50
P3181
P356
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P1476
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
@en
P2093
Adam R Karpf
Benjamin Boes
Cecilie Lander
Christopher J Ward
David I Smith
Douglas C Wallace
Elizabeth J Atkinson
Garth A Nicholson
Georges Mer
Hiromitch Yamanishi
P2860
P2888
P304
P3181
P356
10.1038/NG.830
P407
P577
2011-06-01T00:00:00Z
P5875
P6179
1036925344