Literature DB >> 11269230

The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.

R A Gatti1, S Becker-Catania, H H Chun, X Sun, M Mitui, C H Lai, N Khanlou, M Babaei, R Cheng, C Clark, Y Huo, N C Udar, R K Iyer.   

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Year:  2001        PMID: 11269230     DOI: 10.1385/CRIAI:20:1:87

Source DB:  PubMed          Journal:  Clin Rev Allergy Immunol        ISSN: 1080-0549            Impact factor:   8.667


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  107 in total

1.  Selective deficiency of CD4+/CD45RA+ lymphocytes in patients with ataxia-telangiectasia.

Authors:  R Paganelli; E Scala; E Scarselli; C Ortolani; A Cossarizza; D Carmini; F Aiuti; M Fiorilli
Journal:  J Clin Immunol       Date:  1992-03       Impact factor: 8.317

2.  NS22: a highly polymorphic complex microsatellite marker within the ATM gene.

Authors:  N Udar; S Farzad; L Q Tai; J O Bay; R A Gatti
Journal:  Am J Med Genet       Date:  1999-02-12

Review 3.  Cell-cycle regulation of mammalian DNA double-strand-break repair.

Authors:  E A Hendrickson
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

4.  Molecular analysis of a t(14;14) translocation in leukemic T-cells of an ataxia telangiectasia patient.

Authors:  G Russo; M Isobe; R Gatti; J Finan; O Batuman; K Huebner; P C Nowell; C M Croce
Journal:  Proc Natl Acad Sci U S A       Date:  1989-01       Impact factor: 11.205

5.  Ataxia-Telangiectasia: a multiparameter analysis of eight families.

Authors:  R A Gatti; M Bick; C F Tam; M A Medici; V A Oxelius; M Holland; A L Goldstein; E Boder
Journal:  Clin Immunol Immunopathol       Date:  1982-05

6.  Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer.

Authors:  P Athma; R Rappaport; M Swift
Journal:  Cancer Genet Cytogenet       Date:  1996-12

7.  Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia.

Authors:  T Stankovic; P Weber; G Stewart; T Bedenham; J Murray; P J Byrd; P A Moss; A M Taylor
Journal:  Lancet       Date:  1999-01-02       Impact factor: 79.321

8.  Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes.

Authors:  D Walpita; A W Plug; N F Neff; J German; T Ashley
Journal:  Proc Natl Acad Sci U S A       Date:  1999-05-11       Impact factor: 11.205

Review 9.  Cancer risks in A-T heterozygotes.

Authors:  D F Easton
Journal:  Int J Radiat Biol       Date:  1994-12       Impact factor: 2.694

10.  Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice.

Authors:  P R Borghesani; F W Alt; A Bottaro; L Davidson; S Aksoy; G A Rathbun; T M Roberts; W Swat; R A Segal; Y Gu
Journal:  Proc Natl Acad Sci U S A       Date:  2000-03-28       Impact factor: 11.205

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  39 in total

1.  The effect of population stratification on the frequency of compound heterozygosity.

Authors:  Andrew D J Overall
Journal:  Genetica       Date:  2011-03-10       Impact factor: 1.082

2.  Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.

Authors:  Liutao Du; Refik Kayali; Carmen Bertoni; Francesca Fike; Hailiang Hu; Patrick L Iversen; Richard A Gatti
Journal:  Hum Mol Genet       Date:  2011-05-16       Impact factor: 6.150

3.  Low-dose irradiation prior to bone marrow transplantation results in ATM activation and increased lethality in Atm-deficient mice.

Authors:  J Pietzner; B M Merscher; P C Baer; R P Duecker; O Eickmeier; D Fußbroich; P Bader; D Del Turco; R Henschler; S Zielen; R Schubert
Journal:  Bone Marrow Transplant       Date:  2016-01-11       Impact factor: 5.483

4.  ATM is required for SOD2 expression and homeostasis within the mammary gland.

Authors:  Lisa M Dyer; Jessica D Kepple; Lingbao Ai; Wan-Ju Kim; Virginia L Stanton; Mary K Reinhard; Lindsey R F Backman; W Scott Streitfeld; Nivetha Ramesh Babu; Nicolai Treiber; Karin Scharffetter-Kochanek; Peter J McKinnon; Kevin D Brown
Journal:  Breast Cancer Res Treat       Date:  2017-08-28       Impact factor: 4.872

Review 5.  Ataxia-telangiectasia and related diseases.

Authors:  Pierre-Olivier Frappart; Peter J McKinnon
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

6.  Identification of dAven, a Drosophila melanogaster ortholog of the cell cycle regulator Aven.

Authors:  Sige Zou; Joy Chang; Leesa LaFever; Wangli Tang; Erika L Johnson; Jack Hu; Ronit Wilk; Henry M Krause; Daniela Drummond-Barbosa; Pablo M Irusta
Journal:  Cell Cycle       Date:  2011-03-15       Impact factor: 4.534

Review 7.  DNA repair deficiency and neurological disease.

Authors:  Peter J McKinnon
Journal:  Nat Rev Neurosci       Date:  2009-01-15       Impact factor: 34.870

8.  Cytoplasmic ATM in neurons modulates synaptic function.

Authors:  Jiali Li; Yu R Han; Mark R Plummer; Karl Herrup
Journal:  Curr Biol       Date:  2009-12-03       Impact factor: 10.834

9.  Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.

Authors:  Tomohiro Morio; Naomi Takahashi; Fumiaki Watanabe; Fumiko Honda; Masaki Sato; Masatoshi Takagi; Ken-Ichi Imadome; Toshio Miyawaki; Domenico Delia; Kotoka Nakamura; Richard A Gatti; Shuki Mizutani
Journal:  Int J Hematol       Date:  2009-08-25       Impact factor: 2.490

Review 10.  ATM and ataxia telangiectasia.

Authors:  Peter J McKinnon
Journal:  EMBO Rep       Date:  2004-08       Impact factor: 8.807

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