Literature DB >> 10886231

Immunodeficiency associated with DNA repair defects.

A R Gennery1, A J Cant, P A Jeggo.   

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Year:  2000        PMID: 10886231      PMCID: PMC1905662          DOI: 10.1046/j.1365-2249.2000.01257.x

Source DB:  PubMed          Journal:  Clin Exp Immunol        ISSN: 0009-9104            Impact factor:   4.330


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  85 in total

1.  The Bloom's syndrome gene product is homologous to RecQ helicases.

Authors:  N A Ellis; J Groden; T Z Ye; J Straughen; D J Lennon; S Ciocci; M Proytcheva; J German
Journal:  Cell       Date:  1995-11-17       Impact factor: 41.582

2.  Positional cloning of the Werner's syndrome gene.

Authors:  C E Yu; J Oshima; Y H Fu; E M Wijsman; F Hisama; R Alisch; S Matthews; J Nakura; T Miki; S Ouais; G M Martin; J Mulligan; G D Schellenberg
Journal:  Science       Date:  1996-04-12       Impact factor: 47.728

Review 3.  Ataxia-telangiectasia and cellular responses to DNA damage.

Authors:  M S Meyn
Journal:  Cancer Res       Date:  1995-12-15       Impact factor: 12.701

4.  The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm.

Authors:  K H Kraemer; M M Lee; A D Andrews; W C Lambert
Journal:  Arch Dermatol       Date:  1994-08

5.  Loss of the catalytic subunit of the DNA-dependent protein kinase in DNA double-strand-break-repair mutant mammalian cells.

Authors:  S R Peterson; A Kurimasa; M Oshimura; W S Dynan; E M Bradbury; D J Chen
Journal:  Proc Natl Acad Sci U S A       Date:  1995-04-11       Impact factor: 11.205

Review 6.  Leukemia and lymphoma in ataxia telangiectasia.

Authors:  A M Taylor; J A Metcalfe; J Thick; Y F Mak
Journal:  Blood       Date:  1996-01-15       Impact factor: 22.113

7.  Nature of G1/S cell cycle checkpoint defect in ataxia-telangiectasia.

Authors:  K K Khanna; H Beamish; J Yan; K Hobson; R Williams; I Dunn; M F Lavin
Journal:  Oncogene       Date:  1995-08-17       Impact factor: 9.867

8.  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

9.  Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation.

Authors:  T Blunt; N J Finnie; G E Taccioli; G C Smith; J Demengeot; T M Gottlieb; R Mizuta; A J Varghese; F W Alt; P A Jeggo; S P Jackson
Journal:  Cell       Date:  1995-03-10       Impact factor: 41.582

10.  Cloning of human and mouse genes homologous to RAD52, a yeast gene involved in DNA repair and recombination.

Authors:  D F Muris; O Bezzubova; J M Buerstedde; K Vreeken; A S Balajee; C J Osgood; C Troelstra; J H Hoeijmakers; K Ostermann; H Schmidt
Journal:  Mutat Res       Date:  1994-11       Impact factor: 2.433

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  22 in total

Review 1.  Unravelling the web of DNA repair disorders.

Authors:  A R Gennery; M O'Driscoll
Journal:  Clin Exp Immunol       Date:  2003-12       Impact factor: 4.330

Review 2.  Laboratory diagnosis of primary immunodeficiencies.

Authors:  Bradley A Locke; Trivikram Dasu; James W Verbsky
Journal:  Clin Rev Allergy Immunol       Date:  2014-04       Impact factor: 8.667

Review 3.  RAG gene defects at the verge of immunodeficiency and immune dysregulation.

Authors:  Anna Villa; Luigi D Notarangelo
Journal:  Immunol Rev       Date:  2019-01       Impact factor: 12.988

4.  Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.

Authors:  P L Roddam; S Rollinson; M O'Driscoll; P A Jeggo; A Jack; G J Morgan
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

5.  The Bloom's syndrome helicase is critical for development and function of the alphabeta T-cell lineage.

Authors:  Holger Babbe; Nicholas Chester; Philip Leder; Boris Reizis
Journal:  Mol Cell Biol       Date:  2007-01-08       Impact factor: 4.272

6.  Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.

Authors:  M A García-Pérez; L M Allende; A Corell; E Paz-Artal; P Varela; A López-Goyanes; F García-Martin; R Vázquez; A Sotoca; A Arnaiz-Villena
Journal:  Clin Diagn Lab Immunol       Date:  2001-07

7.  Repair of a minimal DNA double-strand break by NHEJ requires DNA-PKcs and is controlled by the ATM/ATR checkpoint.

Authors:  Christian Kühne; Marie-Louise Tjörnhammar; Sándor Pongor; Lawrence Banks; András Simoncsits
Journal:  Nucleic Acids Res       Date:  2003-12-15       Impact factor: 16.971

Review 8.  [Classification and diagnosis of immunodeficiency syndromes].

Authors:  K Warnatz; H-H Peter
Journal:  Internist (Berl)       Date:  2004-08       Impact factor: 0.743

9.  Genomic instability resulting from Blm deficiency compromises development, maintenance, and function of the B cell lineage.

Authors:  Holger Babbe; Jennifer McMenamin; Elias Hobeika; Jing Wang; Scott J Rodig; Michael Reth; Philip Leder
Journal:  J Immunol       Date:  2009-01-01       Impact factor: 5.422

10.  Magnetic Resonance Imaging May Be a Valuable Radiation-Free Technique for Lung Pathologies in Patients with Primary Immunodeficiency.

Authors:  Sevket Arslan; Necdet Poyraz; Ramazan Ucar; Mihrican Yesildag; Ahmet Yesildag; Ahmet Zafer Caliskaner
Journal:  J Clin Immunol       Date:  2015-12-28       Impact factor: 8.317

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