Literature DB >> 9579166

DNA repair disorders.

C G Woods1.   

Abstract

Mesh:

Year:  1998        PMID: 9579166      PMCID: PMC1717464          DOI: 10.1136/adc.78.2.178

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


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  14 in total

1.  Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity.

Authors:  D BLOOM
Journal:  AMA Am J Dis Child       Date:  1954-12

2.  Cloning of cDNAs for Fanconi's anaemia by functional complementation.

Authors:  C A Strathdee; H Gavish; W R Shannon; M Buchwald
Journal:  Nature       Date:  1992-04-30       Impact factor: 49.962

3.  Defective repair replication of DNA in xeroderma pigmentosum.

Authors:  J E Cleaver
Journal:  Nature       Date:  1968-05-18       Impact factor: 49.962

Review 4.  Ataxia-telangiectasia: some historic, clinical and pathologic observations.

Authors:  E Boder
Journal:  Birth Defects Orig Artic Ser       Date:  1975

5.  Rate of depurination of native deoxyribonucleic acid.

Authors:  T Lindahl; B Nyberg
Journal:  Biochemistry       Date:  1972-09-12       Impact factor: 3.162

6.  Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases.

Authors:  K H Kraemer; M M Lee; J Scotto
Journal:  Arch Dermatol       Date:  1987-02

Review 7.  Cockayne syndrome: review of 140 cases.

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

8.  Different forms of TFIIH for transcription and DNA repair: holo-TFIIH and a nucleotide excision repairosome.

Authors:  J Q Svejstrup; Z Wang; W J Feaver; X Wu; D A Bushnell; T F Donahue; E C Friedberg; R D Kornberg
Journal:  Cell       Date:  1995-01-13       Impact factor: 41.582

9.  A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

Authors:  K Savitsky; A Bar-Shira; S Gilad; G Rotman; Y Ziv; L Vanagaite; D A Tagle; S Smith; T Uziel; S Sfez; M Ashkenazi; I Pecker; M Frydman; R Harnik; S R Patanjali; A Simmons; G A Clines; A Sartiel; R A Gatti; L Chessa; O Sanal; M F Lavin; N G Jaspers; A M Taylor; C F Arlett; T Miki; S M Weissman; M Lovett; F S Collins; Y Shiloh
Journal:  Science       Date:  1995-06-23       Impact factor: 47.728

10.  Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

Authors:  R A Gatti; I Berkel; E Boder; G Braedt; P Charmley; P Concannon; F Ersoy; T Foroud; N G Jaspers; K Lange
Journal:  Nature       Date:  1988-12-08       Impact factor: 49.962

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  5 in total

1.  Human XPA and RPA DNA repair proteins participate in specific recognition of triplex-induced helical distortions.

Authors:  Karen M Vasquez; Jesper Christensen; Lei Li; Rick A Finch; Peter M Glazer
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-23       Impact factor: 11.205

2.  Gene expression profiling of xeroderma pigmentosum.

Authors:  Nikola A Bowden; Paul A Tooney; Rodney J Scott
Journal:  Hered Cancer Clin Pract       Date:  2006-05-15       Impact factor: 2.857

3.  Xeroderma Pigmentosum - A case report with oral implications.

Authors:  Camila Lopes-Cardoso; Luciana M Paes da Silva Ramos Fernandes; Julierme Ferreira-Rocha; Cleverson Teixeira-Soares; Jaison Antônio-Barreto; José Humberto-Damante
Journal:  J Clin Exp Dent       Date:  2012-10-01

4.  A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle.

Authors:  Hermann Schwarzenbacher; Christine Wurmser; Krzysztof Flisikowski; Lubica Misurova; Simone Jung; Martin C Langenmayer; Angelika Schnieke; Gabriela Knubben-Schweizer; Ruedi Fries; Hubert Pausch
Journal:  Genet Sel Evol       Date:  2016-03-31       Impact factor: 4.297

5.  TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Authors:  Margaret E Harley; Olga Murina; Andrea Leitch; Martin R Higgs; Louise S Bicknell; Gökhan Yigit; Andrew N Blackford; Anastasia Zlatanou; Karen J Mackenzie; Kaalak Reddy; Mihail Halachev; Sarah McGlasson; Martin A M Reijns; Adeline Fluteau; Carol-Anne Martin; Simone Sabbioneda; Nursel H Elcioglu; Janine Altmüller; Holger Thiele; Lynn Greenhalgh; Luciana Chessa; Mohamad Maghnie; Mahmoud Salim; Michael B Bober; Peter Nürnberg; Stephen P Jackson; Matthew E Hurles; Bernd Wollnik; Grant S Stewart; Andrew P Jackson
Journal:  Nat Genet       Date:  2015-11-23       Impact factor: 38.330

  5 in total

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