Document Detail


POT of gold: modeling dyskeratosis congenita in the mouse.
MedLine Citation:
PMID:  18593874     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Dyskeratosis congenita (DC) is a rare syndrome, characterized by cutaneous abnormalities and premature death caused by bone marrow failure. In this issue of Genes & Development, Hockemeyer and colleagues (pp. 1773-1785) report a new mouse model that reconstitutes key features of DC. Disease phenotypes are generated by a POT1b deletion in a telomerase-deficient background that accelerates the shortening of telomeres by degradation.
Authors:
Chantal Autexier
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Publication Detail:
Type:  Comment; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genes & development     Volume:  22     ISSN:  0890-9369     ISO Abbreviation:  Genes Dev.     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-07-02     Completed Date:  2008-09-10     Revised Date:  2013-06-05    
Medline Journal Info:
Nlm Unique ID:  8711660     Medline TA:  Genes Dev     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1731-6     Citation Subset:  IM    
Affiliation:
Department of Anatomy and Cell Biology and Department of Medicine, McGill University, Montreal, Quebec H3T 1E2, Canada. chantal.autexier@mcgill.ca
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MeSH Terms
Descriptor/Qualifier:
Animals
Bone Marrow / abnormalities,  metabolism
DNA-Binding Proteins / genetics,  physiology*
Disease Models, Animal
Dyskeratosis Congenita* / genetics,  pathology
Mice
Skin Pigmentation
Telomerase / genetics,  metabolism*
Telomere / ultrastructure*
Chemical
Reg. No./Substance:
0/DNA-Binding Proteins; 0/POT1b protein, mouse; EC 2.7.7.49/Telomerase
Comments/Corrections
Comment On:
Genes Dev. 2008 Jul 1;22(13):1773-85   [PMID:  18550783 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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