Literature DB >> 3372781

Xeroderma pigmentosum complementation group F in a non-Japanese patient.

P G Norris1, J L Hawk, J A Avery, F Giannelli.   

Abstract

Genetic complementation studies allowed assignment of a 22-year-old-white woman to the rare complementation group of classic, excision-defective xeroderma pigmentosum (group F cell strain), previously reported only in patients from Japan. She manifested mild cutaneous changes, with no tumors and normal sensitivity to monochromatic ultraviolet irradiation. Unscheduled deoxyribonucleic acid synthesis in cultured fibroblasts (XP126LO) after irradiation with germicidal ultraviolet light was reduced to 13% of control values during the first 2 hours and rose to 45% of normal by 7 to 8 hours.

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Year:  1988        PMID: 3372781     DOI: 10.1016/s0190-9622(88)70121-8

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  6 in total

1.  Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Authors:  Jennifer Pugh; Sikandar G Khan; Deborah Tamura; Alisa M Goldstein; Maria Teresa Landi; John J DiGiovanna; Kenneth H Kraemer
Journal:  JAMA Dermatol       Date:  2019-01-01       Impact factor: 10.282

2.  No lack of complementation for unscheduled DNA synthesis between xeroderma pigmentosum complementation groups D and H.

Authors:  J H Robbins
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

Review 3.  Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

Authors:  Siobhán Q Gregg; Andria Rasile Robinson; Laura J Niedernhofer
Journal:  DNA Repair (Amst)       Date:  2011-05-25

4.  Mapping of interaction domains between human repair proteins ERCC1 and XPF.

Authors:  W L de Laat; A M Sijbers; H Odijk; N G Jaspers; J H Hoeijmakers
Journal:  Nucleic Acids Res       Date:  1998-09-15       Impact factor: 16.971

5.  SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair.

Authors:  Huimin Zhang; Zhen Chen; Yin Ye; Zu Ye; Dan Cao; Yun Xiong; Mrinal Srivastava; Xu Feng; Mengfan Tang; Chao Wang; John A Tainer; Junjie Chen
Journal:  Nucleic Acids Res       Date:  2019-11-04       Impact factor: 16.971

6.  DNA cross-link repair safeguards genomic stability during premeiotic germ cell development.

Authors:  Ross J Hill; Gerry P Crossan
Journal:  Nat Genet       Date:  2019-07-31       Impact factor: 38.330

  6 in total

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