Literature DB >> 4031543

A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity.

M Ichihashi, Y Fujiwara, Y Uehara, A Matsumoto.   

Abstract

The specific heterodikaryon complementation results allowed us to allocate a 37-year-old female patient with xeroderma pigmentosum (XP31KO) to complementation group G of rare incidence. A mild form of XP31KO as the third group G patient manifested normal skin reaction to phototest, no physical or neuromental abnormalities, and a basal cell epithelioma, in contrast to the reference group G XP2BI. XP31KO cells showed 25% unscheduled DNA synthesis (UDS) after 10 J/m2 UV compared to less than 5% UDS in XP2BI cells and less hypersensitive responses to UV radiation and 4-nitroquinoline-1-oxide killings than did XP2BI cells. Such a repair phenotype of XP31KO presents an intragroup-G heterogeneity.

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Year:  1985        PMID: 4031543     DOI: 10.1111/1523-1747.ep12276776

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  10 in total

1.  Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage.

Authors:  Fabrizio Thorel; Angelos Constantinou; Isabelle Dunand-Sauthier; Thierry Nouspikel; Philippe Lalle; Anja Raams; Nicolaas G J Jaspers; Wim Vermeulen; Mahmud K K Shivji; Richard D Wood; Stuart G Clarkson
Journal:  Mol Cell Biol       Date:  2004-12       Impact factor: 4.272

2.  Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.

Authors:  Shinichi Moriwaki; Masahiro Takigawa; Naoya Igarashi; Yayoi Nagai; Hiroo Amano; Osamu Ishikawa; Sikandar G Khan; Kenneth H Kraemer
Journal:  Exp Dermatol       Date:  2012-04       Impact factor: 3.960

Review 3.  XPG: its products and biological roles.

Authors:  Orlando D Schärer
Journal:  Adv Exp Med Biol       Date:  2008       Impact factor: 2.622

4.  Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.

Authors:  W Vermeulen; J Jaeken; N G Jaspers; D Bootsma; J H Hoeijmakers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

Review 5.  Xeroderma pigmentosum-Cockayne syndrome complex.

Authors:  Valerie Natale; Hayley Raquer
Journal:  Orphanet J Rare Dis       Date:  2017-04-04       Impact factor: 4.123

6.  Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

Authors:  Asma Chikhaoui; Sahar Elouej; Imen Nabouli; Meriem Jones; Arnaud Lagarde; Meriem Ben Rekaya; Olfa Messaoud; Yosr Hamdi; Mohamed Zghal; Valerie Delague; Nicolas Levy; Annachiara De Sandre-Giovannoli; Sonia Abdelhak; Houda Yacoub-Youssef
Journal:  Front Genet       Date:  2019-02-14       Impact factor: 4.599

Review 7.  Hereditary Hearing Impairment with Cutaneous Abnormalities.

Authors:  Tung-Lin Lee; Pei-Hsuan Lin; Pei-Lung Chen; Jin-Bon Hong; Chen-Chi Wu
Journal:  Genes (Basel)       Date:  2020-12-30       Impact factor: 4.096

Review 8.  XPG: a multitasking genome caretaker.

Authors:  Alba Muniesa-Vargas; Arjan F Theil; Cristina Ribeiro-Silva; Wim Vermeulen; Hannes Lans
Journal:  Cell Mol Life Sci       Date:  2022-03-01       Impact factor: 9.207

9.  Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Authors:  Hiva Fassihi; Mieran Sethi; Heather Fawcett; Jonathan Wing; Natalie Chandler; Shehla Mohammed; Emma Craythorne; Ana M S Morley; Rongxuan Lim; Sally Turner; Tanya Henshaw; Isabel Garrood; Paola Giunti; Tammy Hedderly; Adesoji Abiona; Harsha Naik; Gemma Harrop; David McGibbon; Nicolaas G J Jaspers; Elena Botta; Tiziana Nardo; Miria Stefanini; Antony R Young; Robert P E Sarkany; Alan R Lehmann
Journal:  Proc Natl Acad Sci U S A       Date:  2016-02-16       Impact factor: 11.205

10.  Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.

Authors:  Mariangela Sabatella; Arjan F Theil; Cristina Ribeiro-Silva; Jana Slyskova; Karen Thijssen; Chantal Voskamp; Hannes Lans; Wim Vermeulen
Journal:  Nucleic Acids Res       Date:  2018-10-12       Impact factor: 16.971

  10 in total

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