Literature DB >> 7390491

Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum.

M Stefanini, W Keijzer, L Dalprà, R Elli, M N Porro, B Nicoletti, F Nuzzo.   

Abstract

UV-repair activity was studied in two sibs affected by XP showing different clinical symptoms. Complementation studies indicated that both patients fit into complementation group A. The levels of UV-induced 3H-thymidine incorporation, in fibroblasts and in lymphocytes, are different in the two patients: residual level of repair DNA synthesis in the sister is higher than in the brother. In one of the cell samples analyzed UDS analysis showed that in the sister a low proportion of cells with normal repair synthesis is present.

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Year:  1980        PMID： 7390491     DOI： 10.1007/bf00278968

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

Review 1.  Xeroderma pigmentosum: biochemical and genetic characteristics.

Authors:  J E Cleaver; D Bootsma
Journal:  Annu Rev Genet       Date:  1975       Impact factor: 16.830

2.  A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group A.

Authors:  E A Weerd-Kastelein; W Keijzer; M Sabour; J M Parrington; D Bootsma
Journal:  Mutat Res       Date:  1976-11       Impact factor: 2.433

3.  Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates.

Authors:  K H Kraemer; H G Coon; R A Petinga; S F Barrett; A E Rahe; J H Robbins
Journal:  Proc Natl Acad Sci U S A       Date:  1975-01       Impact factor: 11.205

4.  DNA repair and frequency of x-ray and u.v.-light induced chromosome aberrations in leukocytes from patients with Down's syndrome.

Authors:  B Lambert; K Hansson; T H Bui; F Funes-Cravioto; J Lindsten
Journal:  Ann Hum Genet       Date:  1976-01       Impact factor: 1.670

5.  Different inherited levels of DNA repair replication in xeroderma pigmentosum cell strains after exposure to ultraviolet irradiation.

Authors:  D Bootsma; M P Mulder; J A Cohen; F Pot
Journal:  Mutat Res       Date:  1970-05       Impact factor: 2.433

6.  Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.

Authors:  J H Robbins; K H Kraemer; M A Lutzner; B W Festoff; H G Coon
Journal:  Ann Intern Med       Date:  1974-02       Impact factor: 25.391

7.  UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes.

Authors:  W J Kleijer; E A de Weerd-Kastelein; M L Sluyter; W Keijzer; J de Wit; D Bootsma
Journal:  Mutat Res       Date:  1973-12       Impact factor: 2.433

8.  Relation of D.N.A. repair processes to pathological ageing of the nervous system in xeroderma pigmentosum.

Authors:  A D Andrews; S F Barrett; J H Robbins
Journal:  Lancet       Date:  1976-06-19       Impact factor: 79.321

9.  Defective DNA repair replication in xeroderma pigmentosum fibroblasts and DNA repair of somatic cell hybrids after UV irradiation.

Authors:  H Akiba; T Kato; H Nakano; M Seiji
Journal:  Tohoku J Exp Med       Date:  1975-09       Impact factor: 1.848

10.  Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.

Authors:  A D Andrews; S F Barrett; J H Robbins
Journal:  Proc Natl Acad Sci U S A       Date:  1978-04       Impact factor: 11.205
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  5 in total

1.  Altered cellular response to UV irradiation in a patient affected by premature ageing.

Authors:  M Stefanini; G Orecchia; G Rabbiosi; F Nuzzo
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

2.  Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

Authors:  M Stefanini; P Lagomarsini; C F Arlett; S Marinoni; C Borrone; F Crovato; G Trevisan; G Cordone; F Nuzzo
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

3.  Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.

Authors:  K Welshimer; M Swift
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

Review 4.  Xeroderma pigmentosum.

Authors:  Alan R Lehmann; David McGibbon; Miria Stefanini
Journal:  Orphanet J Rare Dis       Date:  2011-11-01       Impact factor: 4.123

5.  Fluorescence detection of cellular nucleotide excision repair of damaged DNA.

Authors:  Tatsuya Toga; Isao Kuraoka; Shun Watanabe; Eiji Nakano; Seiji Takeuchi; Chikako Nishigori; Kaoru Sugasawa; Shigenori Iwai
Journal:  Sci Rep       Date:  2014-07-04       Impact factor: 4.379
  5 in total

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