Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita-Reference-Cited by-同舟云学术

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Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita

Published:2017-08-15 Issue:6 Volume:5 Page:805-808
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Bizarro Jonathan¹,Meier U. Thomas¹^ORCID

Affiliation:

1. Department of Anatomy and Structural Biology; Albert Einstein College of Medicine; 1300 Morris Park Avenue Bronx New York 10461

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.314/fullpdf

Reference15 articles.

1. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita;Alter;Haematologica,2012

2. The molecular genetics of the telomere biology disorders;Bertuch;RNA Biol.,2016

3. Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN);Dhanraj;J. Med. Genet.,2015

4. Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita;Grozdanov;Hum. Mol. Genet.,2009

5. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions;Heiss;Nat. Genet.,1998

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