Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1) Gene-Reference-Cited by-同舟云学术

Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1) Gene

Published:2013-09-11 Issue:11 Volume:34 Page:1481-1485
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Alder Jonathan K.¹,Parry Erin M.¹,Yegnasubramanian Srinivasan¹,Wagner Christa L.¹,Lieblich Lawrence M.²,Auerbach Robert³,Auerbach Arleen D.⁴,Wheelan Sarah J.¹,Armanios Mary¹⁵

Affiliation:

1. Department of Oncology and Sidney Kimmel Comprehensive Cancer Center; Johns Hopkins University School of Medicine; Baltimore Maryland

2. State University of New York at Stony Brook; Stony Brook New York

3. New York University School of Medicine; Langone Medical Center; New York New York

4. Human Genetics and Hematology Program; Rockefeller University; New York New York

5. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

Funder

United States National Institutes of Health (NIH)

Doris Duke Charitable Foundation

NIH

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22397/fullpdf

Reference28 articles.

1. Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis;Alder;PLoS Genet,2011a

2. Telomere length is a determinant of emphysema susceptibility;Alder;Am J Respir Crit Care Med,2011b

3. Syndromes of telomere shortening;Armanios;Annu Rev Genomics Hum Genet,2009

4. Short telomeres are sufficient to cause the degenerative defects associated with aging;Armanios;Am J Hum Genet,2009

5. The telomere syndromes;Armanios;Nat Rev Genet,2012

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