Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

被引：0

作者：

Christopher J Klein

Maria-Victoria Botuyan

Yanhong Wu

Christopher J Ward

Garth A Nicholson

Simon Hammans

Kaori Hojo

Hiromitch Yamanishi

Adam R Karpf

Douglas C Wallace

Mariella Simon

Cecilie Lander

Lisa A Boardman

Julie M Cunningham

Glenn E Smith

William J Litchy

Benjamin Boes

Elizabeth J Atkinson

Sumit Middha

P James B Dyck

Joseph E Parisi

Georges Mer

David I Smith

Peter J Dyck

机构：

[1] Mayo Clinic,Department of Neurology, Division of Peripheral Nerve Diseases

[2] Mayo Clinic,Department of Neurology

[3] Biochemistry and Molecular Biology,Division of Neuropsychiatry

[4] Mayo Clinic,Department of Pharmacology and Therapeutics

[5] Laboratory Medicine and Pathology,Division of Gastroenterology

[6] Mayo Clinic,Division of Psychology

[7] Nephrology and Hypertension Research,Division of Neuropathology Rochester

[8] University of Sydney,undefined

[9] Molecular Medicine Laboratory and Australian and New Zealand Army Corps (ANZAC) Research Institute,undefined

[10] Southampton University Hospitals National Health Service (NHS) Trust,undefined

[11] Harima Sanatorium,undefined

[12] Roswell Park Cancer Institute,undefined

[13] Center for Molecular and Mitochondrial Medicine and Genetics,undefined

[14] University of California,undefined

[15] Queensland Health,undefined

[16] Royal Brisbane Hospital,undefined

[17] Mayo Clinic,undefined

[18] Mayo Clinic,undefined

[19] Roche Applied Science Genomic Sequencing,undefined

[20] Mayo Clinic,undefined

[21] Biomedical Informatics and Statistics,undefined

[22] Mayo Clinic,undefined

来源：

Nature Genetics | 2011年 / 43卷

关键词：

D O I：

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中图分类号：

学科分类号：

摘要：

Christopher Klein and colleagues report that DNMT1 is disrupted in hereditary sensory neuropathy with dementia and hearing loss. The mutations lead to reduced methyltransferase activity, leading to global hypomethylation and site-specific hypermethylation.

引用

页码：595 / 600

页数：5

共 50 条

[1] Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
Klein, Christopher J.
Botuyan, Maria-Victoria
Wu, Yanhong
Ward, Christopher J.
Nicholson, Garth A.
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Hojo, Kaori
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Boardman, Lisa A.
Cunningham, Julie M.
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Atkinson, Elizabeth J.
Middha, Sumit
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NATURE GENETICS, 2011, 43 (06) : 595 - U140
[2] Novel mutation in the methyltransferase domain of DNMT1 in a hereditary sensory and autonomic neuropathy patient with hearing loss, cataract, and dementia
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