Literature DB >> 22366859

Connecting complex disorders through biology.

Sharon A Savage1.   

Abstract

Mutations in CTC1, which encodes a key telomere component, have been identified as the cause of Coats plus syndrome. This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson syndrome.

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Year:  2012        PMID： 22366859     DOI： 10.1038/ng.2206

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

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

Authors:  Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel-Salem; Riyana Babul-Hirji; Peter Baxter; Andrea Berger; Luisa Bonafé; Janice E Brunstom-Hernandez; Johannes A Buckard; David Chitayat; Wui K Chong; Duccio M Cordelli; Patrick Ferreira; Joel Fluss; Ewan H Forrest; Emilio Franzoni; Caterina Garone; Simon R Hammans; Gunnar Houge; Imelda Hughes; Sebastien Jacquemont; Pierre-Yves Jeannet; Rosalind J Jefferson; Ram Kumar; Georg Kutschke; Staffan Lundberg; Charles M Lourenço; Ramesh Mehta; Sakkubai Naidu; Ken K Nischal; Luís Nunes; Katrin Ounap; Michel Philippart; Prab Prabhakar; Sarah R Risen; Raphael Schiffmann; Calvin Soh; John B P Stephenson; Helen Stewart; Jon Stone; John L Tolmie; Marjo S van der Knaap; Jose P Vieira; Catheline N Vilain; Emma L Wakeling; Vanessa Wermenbol; Andrea Whitney; Simon C Lovell; Stefan Meyer; John H Livingston; Gabriela M Baerlocher; Graeme C M Black; Gillian I Rice; Yanick J Crow
Journal:  Nat Genet       Date:  2012-01-22       Impact factor: 38.330

Review 2.  CST meets shelterin to keep telomeres in check.

Authors:  Marie-Josèphe Giraud-Panis; M Teresa Teixeira; Vincent Géli; Eric Gilson
Journal:  Mol Cell       Date:  2010-09-10       Impact factor: 17.970

3.  How shelterin solves the telomere end-protection problem.

Authors:  T de Lange
Journal:  Cold Spring Harb Symp Quant Biol       Date:  2011-01-05

4.  Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy.

Authors:  P Labrune; C Lacroix; F Goutières; J de Laveaucoupet; P Chevalier; M Zerah; B Husson; P Landrieu
Journal:  Neurology       Date:  1996-05       Impact factor: 9.910

5.  Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Authors:  Amanda J Walne; Tom Vulliamy; Richard Beswick; Michael Kirwan; Inderjeet Dokal
Journal:  Hum Mol Genet       Date:  2010-09-03       Impact factor: 6.150

6.  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.

Authors:  Y J Crow; J McMenamin; C A Haenggeli; D M Hadley; S Tirupathi; E P Treacy; S M Zuberi; B H Browne; J L Tolmie; J B P Stephenson
Journal:  Neuropediatrics       Date:  2004-02       Impact factor: 1.947

7.  Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Authors:  Blanche P Alter; Gabriela M Baerlocher; Sharon A Savage; Stephen J Chanock; Babette B Weksler; Judith P Willner; June A Peters; Neelam Giri; Peter M Lansdorp
Journal:  Blood       Date:  2007-04-27       Impact factor: 22.113

8.  Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes.

Authors:  Yulia V Surovtseva; Dmitri Churikov; Kara A Boltz; Xiangyu Song; Jonathan C Lamb; Ross Warrington; Katherine Leehy; Michelle Heacock; Carolyn M Price; Dorothy E Shippen
Journal:  Mol Cell       Date:  2009-10-23       Impact factor: 17.970

9.  TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

Authors:  Sharon A Savage; Neelam Giri; Gabriela M Baerlocher; Nick Orr; Peter M Lansdorp; Blanche P Alter
Journal:  Am J Hum Genet       Date:  2008-01-31       Impact factor: 11.025

Review 10.  The genetics and clinical manifestations of telomere biology disorders.

Authors:  Sharon A Savage; Alison A Bertuch
Journal:  Genet Med       Date:  2010-12       Impact factor: 8.822
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  12 in total

1.  CTC1 Mutations in a patient with dyskeratosis congenita.

Authors:  Rachel B Keller; Katelyn E Gagne; G Naheed Usmani; George K Asdourian; David A Williams; Inga Hofmann; Suneet Agarwal
Journal:  Pediatr Blood Cancer       Date:  2012-04-24       Impact factor: 3.167

2.  CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion.

Authors:  Peili Gu; Jin-Na Min; Yang Wang; Chenhui Huang; Tao Peng; Weihang Chai; Sandy Chang
Journal:  EMBO J       Date:  2012-04-24       Impact factor: 11.598

3.  Human CST Facilitates Genome-wide RAD51 Recruitment to GC-Rich Repetitive Sequences in Response to Replication Stress.

Authors:  Megan Chastain; Qing Zhou; Olga Shiva; Maria Fadri-Moskwik; Leanne Whitmore; Pingping Jia; Xueyu Dai; Chenhui Huang; Ping Ye; Weihang Chai
Journal:  Cell Rep       Date:  2016-08-02       Impact factor: 9.423

4.  Mutations in the telomere capping complex in bone marrow failure and related syndromes.

Authors:  Amanda J Walne; Tanya Bhagat; Michael Kirwan; Cyril Gitiaux; Isabelle Desguerre; Norma Leonard; Elena Nogales; Tom Vulliamy; Inderjeet S Dokal
Journal:  Haematologica       Date:  2012-08-16       Impact factor: 9.941

5.  Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.

Authors:  Peili Gu; Sandy Chang
Journal:  Aging Cell       Date:  2013-09-04       Impact factor: 9.304

6.  Leukoencephalopathy, cerebral calcifications and cysts: a family study.

Authors:  Kinga Karlinger; Ádám Domonkos Tárnoki; Dávid László Tárnoki; Anne Polvi; Anna-Elina Lehesjoki; Andrea Kelemen; László Szegedi; Eszter Turányi; Anita Kamondi; Anna Szűcs
Journal:  J Neurol       Date:  2014-07-18       Impact factor: 4.849

Review 7.  Genomic characterization of the inherited bone marrow failure syndromes.

Authors:  Payal P Khincha; Sharon A Savage
Journal:  Semin Hematol       Date:  2013-10       Impact factor: 3.851

Review 8.  Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Authors:  Galina Glousker; Fabien Touzot; Patrick Revy; Yehuda Tzfati; Sharon A Savage
Journal:  Br J Haematol       Date:  2015-05-04       Impact factor: 6.998

Review 9.  An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Authors:  Marena R Niewisch; Sharon A Savage
Journal:  Expert Rev Hematol       Date:  2019-09-10       Impact factor: 2.819

10.  Telomere heterogeneity linked to metabolism and pluripotency state revealed by simultaneous analysis of telomere length and RNA-seq in the same human embryonic stem cell.

Authors:  Hua Wang; Kunshan Zhang; Yifei Liu; Yudong Fu; Shan Gao; Peng Gong; Haiying Wang; Zhongcheng Zhou; Ming Zeng; Zhenfeng Wu; Yu Sun; Tong Chen; Siguang Li; Lin Liu
Journal:  BMC Biol       Date:  2017-12-08       Impact factor: 7.431
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