Literature DB >> 28401271

[Light protection for xeroderma pigmentosum].

M Ettinger1, M Berneburg2.   

Abstract

Xeroderma pigmentosum is a rare autosomal recessive disorder which is caused by germinal mutations responsible for the repair of ultraviolet (UV) radiation-induced DNA lesions. It is characterized by hypersensitivity to UV radiation, poikiloderma, ocular surface disease, and in some patients pronounced sunburn and neurological disease. Patients have a very high risk of developing ocular and skin cancer on exposed body sites. No cure is available for these patients except complete protection from all types of UV radiation.

Entities:  

Keywords:  Genodermatosis; Light protection; Light sensitivity; Poikiloderma; Tumors

Mesh:

Substances:

Year:  2017        PMID: 28401271     DOI: 10.1007/s00105-017-3978-4

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


  28 in total

1.  Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.

Authors:  Yuko Hirai; Yoshiaki Kodama; Shin-Ichi Moriwaki; Asao Noda; Harry M Cullings; Donald G Macphee; Kazunori Kodama; Kiyohiko Mabuchi; Kenneth H Kraemer; Charles E Land; Nori Nakamura
Journal:  Mutat Res       Date:  2006-08-14       Impact factor: 2.433

2.  Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

Authors:  Porcia T Bradford; Alisa M Goldstein; Deborah Tamura; Sikandar G Khan; Takahiro Ueda; Jennifer Boyle; Kyu-Seon Oh; Kyoko Imoto; Hiroki Inui; Shin-Ichi Moriwaki; Steffen Emmert; Kristen M Pike; Arati Raziuddin; Teri M Plona; John J DiGiovanna; Margaret A Tucker; Kenneth H Kraemer
Journal:  J Med Genet       Date:  2010-11-19       Impact factor: 6.318

Review 3.  Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.

Authors:  James E Cleaver; Ernest T Lam; Ingrid Revet
Journal:  Nat Rev Genet       Date:  2009-10-07       Impact factor: 53.242

Review 4.  Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.

Authors:  Hema L Ramkumar; Brian P Brooks; Xiaoguang Cao; Deborah Tamura; John J Digiovanna; Kenneth H Kraemer; Chi-Chao Chan
Journal:  Surv Ophthalmol       Date:  2011 Jul-Aug       Impact factor: 6.048

5.  Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy.

Authors:  Evangelia Farmaki; Natalia Nedelkopoulou; Florentina Delli; Kosmas Sarafidis; Dimitrios I Zafeiriou
Journal:  Indian J Pediatr       Date:  2016-07-30       Impact factor: 1.967

Review 6.  Rare hereditary diseases with defects in DNA-repair.

Authors:  Jennifer Knoch; York Kamenisch; Christian Kubisch; Mark Berneburg
Journal:  Eur J Dermatol       Date:  2012 Jul-Aug       Impact factor: 3.328

7.  Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.

Authors:  Bernard C Broughton; Agnes Cordonnier; Wim J Kleijer; Nicolaas G J Jaspers; Heather Fawcett; Anja Raams; Victor H Garritsen; Anne Stary; Marie-Françoise Avril; Francois Boudsocq; Chikahide Masutani; Fumio Hanaoka; Robert P Fuchs; Alain Sarasin; Alan R Lehmann
Journal:  Proc Natl Acad Sci U S A       Date:  2002-01-02       Impact factor: 11.205

8.  A comprehensive catalogue of somatic mutations from a human cancer genome.

Authors:  Erin D Pleasance; R Keira Cheetham; Philip J Stephens; David J McBride; Sean J Humphray; Chris D Greenman; Ignacio Varela; Meng-Lay Lin; Gonzalo R Ordóñez; Graham R Bignell; Kai Ye; Julie Alipaz; Markus J Bauer; David Beare; Adam Butler; Richard J Carter; Lina Chen; Anthony J Cox; Sarah Edkins; Paula I Kokko-Gonzales; Niall A Gormley; Russell J Grocock; Christian D Haudenschild; Matthew M Hims; Terena James; Mingming Jia; Zoya Kingsbury; Catherine Leroy; John Marshall; Andrew Menzies; Laura J Mudie; Zemin Ning; Tom Royce; Ole B Schulz-Trieglaff; Anastassia Spiridou; Lucy A Stebbings; Lukasz Szajkowski; Jon Teague; David Williamson; Lynda Chin; Mark T Ross; Peter J Campbell; David R Bentley; P Andrew Futreal; Michael R Stratton
Journal:  Nature       Date:  2009-12-16       Impact factor: 49.962

9.  Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.

Authors:  Kate S Reid-Bayliss; Sarah T Arron; Lawrence A Loeb; Vladimir Bezrookove; James E Cleaver
Journal:  Proc Natl Acad Sci U S A       Date:  2016-08-19       Impact factor: 11.205

10.  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

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  1 in total

Review 1.  [UV phototherapy : UV phototherapy and photodiagnostics-a practical overview].

Authors:  H Stege; K Ghoreschi; C Hünefeld
Journal:  Hautarzt       Date:  2021-01-04       Impact factor: 0.751

  1 in total

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