Literature DB >> 5257133

Xeroderma pigmentosum: a human disease in which an initial stage of DNA repair is defective.

J E Cleaver.   

Abstract

Homozygous xeroderma pigmentosum fibroblasts cannot repair damage to DNA bases, but can repair damage that involves chain breaks. In xeroderma pigmentosum, therefore, there is a defect in an early step in repair at which base damage is recognized and the polynucleotide chain broken enzymatically (by an endonuclease). Heterozygous fibroblasts repair base damage to normal extents. Carcinogenesis in xeroderma pigmentosum, and perhaps in some normal individuals, may be the result of somatic mutations caused by unrepaired damage.

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Year:  1969        PMID: 5257133      PMCID: PMC223582          DOI: 10.1073/pnas.63.2.428

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  19 in total

1.  XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME.

Authors:  W B REED; S B MARY; W R NICKEL
Journal:  Arch Dermatol       Date:  1965-03

2.  XERODERMA PIGMENTOSUM--ITS INHERITANCE AND RELATIONSHIP TO THE ABO BLOOD-GROUP SYSTEM.

Authors:  H EL-HEFNAWI; S M SMITH; L S PENROSE
Journal:  Ann Hum Genet       Date:  1965-03       Impact factor: 1.670

3.  Enzymatic breakage and joining of deoxyribonucleic acid, I. Repair of single-strand breaks in DNA by an enzyme system from Escherichia coli infected with T4 bacteriophage.

Authors:  B Weiss; C C Richardson
Journal:  Proc Natl Acad Sci U S A       Date:  1967-04       Impact factor: 11.205

4.  Defective repair replication of DNA in xeroderma pigmentosum.

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

5.  Evidence for repair replication of HeLa cell DNA damaged by ultraviolet light.

Authors:  J R Cleaver; R B Painter
Journal:  Biochim Biophys Acta       Date:  1968-07-23

6.  Repair replication, unscheduled DNA synthesis, and the repair of mammalian DNA.

Authors:  R B Painter; J E Cleaver
Journal:  Radiat Res       Date:  1969-03       Impact factor: 2.841

7.  An endonucleolytic activity specific for ultraviolet-irradiated DNA in wild type and mutant strains of Micrococcus lysodeikticus.

Authors:  K Shimada; H Nakayama; S Okubo; M Sekiguchi; Y Takagi
Journal:  Biochem Biophys Res Commun       Date:  1967-06-09       Impact factor: 3.575

8.  Responses of synchronous populations of HeLa cells to ultraviolet irradiation at selected stages of the generation cycle.

Authors:  B Djordjevic; L J Tolmach
Journal:  Radiat Res       Date:  1967-10       Impact factor: 2.841

9.  Repair replication and degradation of bromouracil-substituted DNA in mammalian cells after irradiation with ultraviolet light.

Authors:  J E Cleaver
Journal:  Biophys J       Date:  1968-07       Impact factor: 4.033

Review 10.  Cyclobutane-type pyrimidine dimers in polynucleotides.

Authors:  R B Setlow
Journal:  Science       Date:  1966-07-22       Impact factor: 47.728

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  70 in total

Review 1.  Basal cell carcinoma.

Authors:  J T Lear; I Harvey; D de Berker; R C Strange; A A Fryer
Journal:  J R Soc Med       Date:  1998-11       Impact factor: 5.344

2.  Topical DNA oligonucleotide therapy reduces UV-induced mutations and photocarcinogenesis in hairless mice.

Authors:  David A Goukassian; Elizabeth Helms; Harry van Steeg; Conny van Oostrom; Jag Bhawan; Barbara A Gilchrest
Journal:  Proc Natl Acad Sci U S A       Date:  2004-03-03       Impact factor: 11.205

3.  Enzyme defect in xeroderma pigmentosum.

Authors:  J E Cleaver
Journal:  Calif Med       Date:  1970-10

4.  Defective thymine dimer excision by cell-free extracts of xeroderma pigmentosum cells.

Authors:  K Mortelmans; E C Friedberg; H Slor; G Thomas; J E Cleaver
Journal:  Proc Natl Acad Sci U S A       Date:  1976-08       Impact factor: 11.205

5.  Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi's anemia.

Authors:  S A Latt; G Stetten; L A Juergens; G R Buchanan; P S Gerald
Journal:  Proc Natl Acad Sci U S A       Date:  1975-10       Impact factor: 11.205

6.  Microarray analysis of microRNA expression in skin of Xpc⁺/⁻ mice and wild-type mice.

Authors:  B Zhou; H Wu; W Li; W Liu; D Luo
Journal:  Ir J Med Sci       Date:  2010-10-26       Impact factor: 1.568

7.  Elevated DNA excision repair capacity in the extraembryonic mesoderm of the midgestation mouse embryo.

Authors:  J J Latimer; M L Hultner; J E Cleaver; R A Pedersen
Journal:  Exp Cell Res       Date:  1996-10-10       Impact factor: 3.905

8.  Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins.

Authors:  C H Park; A Sancar
Journal:  Proc Natl Acad Sci U S A       Date:  1994-05-24       Impact factor: 11.205

9.  Expression of mitochondrial genes and DNA-repair-related nuclear genes is altered in xeroderma pigmentosum fibroblasts.

Authors:  X Xia; D Werner; O Popanda; H W Thielmann
Journal:  J Cancer Res Clin Oncol       Date:  1994       Impact factor: 4.553

Review 10.  Modulation of the expression of intercellular adhesion molecule-1 (ICAM-1) in human keratinocytes by ultraviolet (UV) radiation.

Authors:  J Krutmann; U Trefzer
Journal:  Springer Semin Immunopathol       Date:  1992
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