Literature DB >> 3277755

A new chromosomal instability disorder confirmed by complementation studies.

R D Wegner1, M Metzger, F Hanefeld, N G Jaspers, C Baan, K Magdorf, J Kunze, K Sperling.   

Abstract

Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).

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Year:  1988        PMID： 3277755

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  22 in total

Review 1.  The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.

Authors:  R A Gatti; 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
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 8.667

2.  Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.

Authors:  W Jongmans; M Vuillaume; K Chrzanowska; D Smeets; K Sperling; J Hall
Journal:  Mol Cell Biol       Date:  1997-09       Impact factor: 4.272

3.  The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Authors:  K Saar; K H Chrzanowska; M Stumm; M Jung; G Nürnberg; T F Wienker; E Seemanová; R D Wegner; A Reis; K Sperling
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

4.  The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11.

Authors:  K Komatsu; S Matsuura; H Tauchi; S Endo; S Kodama; D Smeets; C Weemaes; M Oshimura
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

5.  Noncomplementation of radiation-induced chromosome aberrations in ataxia-telangiectasia/ataxia-telangiectasia-variant heterodikaryons.

Authors:  M Stumm; K Sperling; R D Wegner
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

Review 6.  Nijmegen breakage syndrome.

Authors:  I van der Burgt; K H Chrzanowska; D Smeets; C Weemaes
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

7.  The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.

Authors:  M Stumm; R A Gatti; A Reis; N Udar; K Chrzanowska; E Seemanova; K Sperling; R D Wegner
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

8.  Human chromosome 11 complements ataxia-telangiectasia cells but does not complement the defect in AT-like Chinese hamster cell mutants.

Authors:  W Jongmans; J Wiegant; M Oshimura; M R James; P H Lohman; M Z Zdzienicka
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

9.  Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly.

Authors:  N Tommerup; E Mortensen; M H Nielsen; R D Wegner; D Schindler; M Mikkelsen
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

Review 10.  Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.

Authors:  P Franceschini; S Martino; M Ciocchini; E Ciuti; M P Vardeu; A Guala; F Signorile; P Camerano; D Franceschini; P A Tovo
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183
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