Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs-Reference-Cited by-同舟云学术

Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

Published:2014-06-24 Issue:8 Volume:35 Page:998-1010
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zeng Weihua¹²,Chen Yen-Yun¹,Newkirk Daniel A.¹,Wu Beibei³,Balog Judit⁴,Kong Xiangduo¹,Ball Alexander R.¹,Zanotti Simona⁵,Tawil Rabi⁶,Hashimoto Naohiro⁷,Mortazavi Ali²,van der Maarel Silvère M.⁴,Yokomori Kyoko¹

Affiliation:

1. Department of Biological Chemistry, School of Medicine; University of California; Irvine California

2. Department of Developmental and Cell Biology, School of Biological Sciences; University of California; Irvine California

3. Department of Microbiology and Molecular Genetics; School of Medicine, University of California; Irvine California

4. Center for Human and Clinical Genetics; Leiden University Medical Center; RC Leiden The Netherlands

5. Neuromuscular Diseases and Neuroimmunology Unit; Muscle Cell Biology Laboratory, Fondazione IRCCS Istituto Neurologico “C. Besta”; Milano Italy

6. University of Rochester Medical Center; Rochester New York

7. Department of Regenerative Medicine; National Institute for Longevity Sciences, National Center for Geriatrics and Gerontology; Obu Japan

Funder

National Institutes of Health

Muscular Dystrophy Association

FSH Society

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22593/fullpdf

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4. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy;Broucqsault;Hum Mol Genet,2013

5. Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy;Cacurri;Am J Hum Genet,1998

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