Literature DB >> 18593874

POT of gold: modeling dyskeratosis congenita in the mouse.

Chantal Autexier1.   

Abstract

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.

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Year:  2008        PMID： 18593874      PMCID： PMC2732423          DOI： 10.1101/gad.1695808

Source DB:  PubMed          Journal:  Genes Dev        ISSN： 0890-9369            Impact factor:   11.361


  53 in total

1.  Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Authors:  Hiroki Yamaguchi; Rodrigo T Calado; Hinh Ly; Sachiko Kajigaya; Gabriela M Baerlocher; Stephen J Chanock; Peter M Lansdorp; Neal S Young
Journal:  N Engl J Med       Date:  2005-04-07       Impact factor: 91.245

2.  Cell cycle-regulated generation of single-stranded G-rich DNA in the absence of telomerase.

Authors:  I Dionne; R J Wellinger
Journal:  Proc Natl Acad Sci U S A       Date:  1996-11-26       Impact factor: 11.205

3.  X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

Authors:  N S Heiss; S W Knight; T J Vulliamy; S M Klauck; S Wiemann; P J Mason; A Poustka; I Dokal
Journal:  Nat Genet       Date:  1998-05       Impact factor: 38.330

4.  POT1 and TRF2 cooperate to maintain telomeric integrity.

Authors:  Qin Yang; Yun-Ling Zheng; Curtis C Harris
Journal:  Mol Cell Biol       Date:  2005-02       Impact factor: 4.272

5.  G-strand overhangs on telomeres in telomerase-deficient mouse cells.

Authors:  M T Hemann; C W Greider
Journal:  Nucleic Acids Res       Date:  1999-10-15       Impact factor: 16.971

6.  Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

Authors:  Tom J Vulliamy; Amanda Walne; Aroon Baskaradas; Philip J Mason; Anna Marrone; Inderjeet Dokal
Journal:  Blood Cells Mol Dis       Date:  2005 May-Jun       Impact factor: 3.039

7.  Longevity, stress response, and cancer in aging telomerase-deficient mice.

Authors:  K L Rudolph; S Chang; H W Lee; M Blasco; G J Gottlieb; C Greider; R A DePinho
Journal:  Cell       Date:  1999-03-05       Impact factor: 41.582

8.  Telomere shortening and tumor formation by mouse cells lacking telomerase RNA.

Authors:  M A Blasco; H W Lee; M P Hande; E Samper; P M Lansdorp; R A DePinho; C W Greider
Journal:  Cell       Date:  1997-10-03       Impact factor: 41.582

9.  Loss of hPot1 function leads to telomere instability and a cut-like phenotype.

Authors:  Timothy Veldman; Katherine T Etheridge; Christopher M Counter
Journal:  Curr Biol       Date:  2004-12-29       Impact factor: 10.834

10.  A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end.

Authors:  J R Mitchell; J Cheng; K Collins
Journal:  Mol Cell Biol       Date:  1999-01       Impact factor: 4.272
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  5 in total

1.  Lung alveolar integrity is compromised by telomere shortening in telomerase-null mice.

Authors:  Jooeun Lee; Raghava Reddy; Lora Barsky; Jessica Scholes; Hui Chen; Wei Shi; Barbara Driscoll
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2008-10-24       Impact factor: 5.464

Review 2.  Advances in the understanding of dyskeratosis congenita.

Authors:  Amanda J Walne; Inderjeet Dokal
Journal:  Br J Haematol       Date:  2009-02-04       Impact factor: 6.998

3.  Premature aging in telomerase-deficient zebrafish.

Authors:  Monique Anchelin; Francisca Alcaraz-Pérez; Carlos M Martínez; Manuel Bernabé-García; Victoriano Mulero; María L Cayuela
Journal:  Dis Model Mech       Date:  2013-06-05       Impact factor: 5.758

4.  Generation of dyskeratosis congenita-like hematopoietic stem cells through the stable inhibition of DKC1.

Authors:  Rosario Perona; Guillermo Guenechea; Carlos Carrascoso-Rubio; Hidde A Zittersteijn; Laura Pintado-Berninches; Beatriz Fernández-Varas; M Luz Lozano; Cristina Manguan-Garcia; Leandro Sastre; Juan A Bueren
Journal:  Stem Cell Res Ther       Date:  2021-01-29       Impact factor: 6.832

Review 5.  Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

Authors:  Michele Callea; Diego Martinelli; Francisco Cammarata-Scalisi; Chiara Grimaldi; Houweyda Jilani; Piercesare Grimaldi; Colin Eric Willoughby; Antonino Morabito
Journal:  Genes (Basel)       Date:  2022-03-11       Impact factor: 4.096
  5 in total

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