Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus-Reference-Cited by-同舟云学术

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Published:2012-01-22 Issue:3 Volume:44 Page:338-342
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Anderson Beverley H,Kasher Paul R,Mayer Josephine,Szynkiewicz Marcin,Jenkinson Emma M,Bhaskar Sanjeev S,Urquhart Jill E,Daly Sarah B,Dickerson Jonathan E,O'Sullivan James,Leibundgut Elisabeth Oppliger,Muter Joanne,Abdel-Salem Ghada M H,Babul-Hirji Riyana,Baxter Peter,Berger Andrea,Bonafé Luisa,Brunstom-Hernandez Janice E,Buckard Johannes A,Chitayat David,Chong Wui K,Cordelli Duccio M,Ferreira Patrick,Fluss Joel,Forrest Ewan H,Franzoni Emilio,Garone Caterina,Hammans Simon R,Houge Gunnar,Hughes Imelda,Jacquemont Sebastien,Jeannet Pierre-Yves,Jefferson Rosalind J,Kumar Ram,Kutschke Georg,Lundberg Staffan,Lourenço Charles M,Mehta Ramesh,Naidu Sakkubai,Nischal Ken K,Nunes Luís,Õunap Katrin,Philippart Michel,Prabhakar Prab,Risen Sarah R,Schiffmann Raphael,Soh Calvin,Stephenson John B P,Stewart Helen,Stone Jon,Tolmie John L,van der Knaap Marjo S,Vieira Jose P,Vilain Catheline N,Wakeling Emma L,Wermenbol Vanessa,Whitney Andrea,Lovell Simon C,Meyer Stefan,Livingston John H,Baerlocher Gabriela M,Black Graeme C M,Rice Gillian I,Crow Yanick J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.1084.pdf

Reference18 articles.

1. Jain, D. & Cooper, J.P. Telomeric strategies: means to an end. Annu. Rev. Genet. 44, 243–269 (2010).

2. Savage, S.A. & Bertuch, A.A. The genetics and clinical manifestations of telomere biology disorders. Genet. Med. 12, 753–764 (2010).

3. Nelson, N.D. & Bertuch, A.A. Dyskeratosis congenita as a disorder of telomere maintenance. Mutat. Res. published online, doi:10.1016/j.mrfmmm.2011.06.008 (2 July 2011).

4. Tolmie, J.L., Browne, B.H., McGettrick, P.M. & Stephenson, J.B. A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification. Eye (Lond.) 2, 297–303 (1988).

5. Crow, Y.J. et al. Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics 35, 10–19 (2004).

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