Literature DB >> 14661080

CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

Henian Cao1, Christina Williams1, Monica Carter1, Robert A Hegele2,3.   

Abstract

We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. We also identified and characterized a new common single nucleotide polymorphism in CKN1 in five groups.

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Year:  2003        PMID： 14661080     DOI： 10.1007/s10038-003-0107-2

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  5 in total

Review 1.  Mechanisms of transcription-coupled DNA repair.

Authors:  Jesper Q Svejstrup
Journal:  Nat Rev Mol Cell Biol       Date:  2002-01       Impact factor: 94.444

2.  The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.

Authors:  K A Henning; L Li; N Iyer; L D McDaniel; M S Reagan; R Legerski; R A Schultz; M Stefanini; A R Lehmann; L V Mayne; E C Friedberg
Journal:  Cell       Date:  1995-08-25       Impact factor: 41.582

Review 3.  A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

Authors:  J E Cleaver; L H Thompson; A S Richardson; J C States
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

Review 4.  Cockayne syndrome: review of 140 cases.

Authors:  M A Nance; S A Berry
Journal:  Am J Med Genet       Date:  1992-01-01

5.  Three novel mutations responsible for Cockayne syndrome group A.

Authors:  Yan Ren; Masafumi Saijo; Yoshimichi Nakatsu; Hiroshi Nakai; Masaru Yamaizumi; Kiyoji Tanaka
Journal:  Genes Genet Syst       Date:  2003-02       Impact factor: 1.517
  5 in total
  4 in total

1.  Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.

Authors:  Andrew J Ridley; James Colley; David Wynford-Thomas; Christopher J Jones
Journal:  J Hum Genet       Date:  2005-03-03       Impact factor: 3.172

2.  A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.

Authors:  Tiziana Nardo; Roberta Oneda; Graciela Spivak; Bruno Vaz; Laurent Mortier; Pierre Thomas; Donata Orioli; Vincent Laugel; Anne Stary; Philip C Hanawalt; Alain Sarasin; Miria Stefanini
Journal:  Proc Natl Acad Sci U S A       Date:  2009-03-27       Impact factor: 11.205

3.  Identification of Reproduction-Related Gene Polymorphisms Using Whole Transcriptome Sequencing in the Large White Pig Population.

Authors:  Daniel Fischer; Asta Laiho; Attila Gyenesei; Anu Sironen
Journal:  G3 (Bethesda)       Date:  2015-04-27       Impact factor: 3.154

4.  Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.

Authors:  Xiaozhu Wang; Yu Huang; Ming Yan; Jiuwei Li; Changhong Ding; Hong Jin; Fang Fang; Yanling Yang; Baiyan Wu; Dafang Chen
Journal:  Sci Rep       Date:  2017-10-20       Impact factor: 4.379
  4 in total

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