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Literature DB >> 16990803

Xeroderma pigmentosum group C in an isolated region of Guatemala.

James E Cleaver, Luzviminda Feeney, Jean Y Tang, Peggy Tuttle.

Abstract

Entities: Disease Mutation

Mesh：

Substances：

Year: 2006 PMID： 16990803 PMCID： PMC3031115 DOI： 10.1038/sj.jid.5700555

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

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12 in total

Review 1. Genome maintenance mechanisms for preventing cancer.

Authors: J H Hoeijmakers
Journal: Nature Date: 2001-05-17 Impact factor: 49.962

2. A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism.

Authors: S G Khan; E J Metter; R E Tarone; V A Bohr; L Grossman; M Hedayati; S J Bale; S Emmert; K H Kraemer
Journal: Carcinogenesis Date: 2000-10 Impact factor: 4.944

3. Rapid diagnosis of sensitivity to ultraviolet light in fibroblasts from dermatologic disorders, with particular reference to xeroderma pigmentosum.

Authors: J E Cleaver; G H Thomas
Journal: J Invest Dermatol Date: 1988-04 Impact factor: 8.551

4. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.

Authors: Sikandar G Khan; Kyu-Seon Oh; Tala Shahlavi; Takahiro Ueda; David B Busch; Hiroki Inui; Steffen Emmert; Kyoko Imoto; Vanessa Muniz-Medina; Carl C Baker; John J DiGiovanna; Deborah Schmidt; Arash Khadavi; Ahmet Metin; Engin Gozukara; Hanoch Slor; Alain Sarasin; Kenneth H Kraemer
Journal: Carcinogenesis Date: 2005-08-04 Impact factor: 4.944

5. 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

6. Human DNA repair genes.

Authors: R D Wood; M Mitchell; J Sgouros; T Lindahl
Journal: Science Date: 2001-02-16 Impact factor: 47.728

7. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.

Authors: F Chavanne; B C Broughton; D Pietra; T Nardo; A Browitt; A R Lehmann; M Stefanini
Journal: Cancer Res Date: 2000-04-01 Impact factor: 12.701

8. High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia.

Authors: C Nishigori; M Zghal; T Yagi; S Imamura; M R Komoun; H Takebe
Journal: Am J Hum Genet Date: 1993-11 Impact factor: 11.025

9. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.

Authors: Sikandar G Khan; Ahmet Metin; Engin Gozukara; Hiroki Inui; Tala Shahlavi; Vanessa Muniz-Medina; Carl C Baker; Takahiro Ueda; Juliet R Aiken; Thomas D Schneider; Kenneth H Kraemer
Journal: Hum Mol Genet Date: 2003-12-08 Impact factor: 6.150

10. Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.

Authors: I Satokata; K Tanaka; S Yuba; Y Okada
Journal: Mutat Res Date: 1992-03 Impact factor: 2.433

10 in total

1. Diagnosis of Xeroderma Pigmentosum and Related DNA Repair-Deficient Cutaneous Diseases.

Authors: James E Cleaver
Journal: Curr Med Lit Dermatol Date: 2008

Review 2. 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

3. The DNA damage-binding protein XPC is a frequent target for inactivation in squamous cell carcinomas.

Authors: Sebastien de Feraudy; Katie Ridd; Lauren M Richards; Pui-Yan Kwok; Ingrid Revet; Dennis Oh; Luzviminda Feeney; James E Cleaver
Journal: Am J Pathol Date: 2010-07-08 Impact factor: 4.307

4. Transcription restores DNA repair to heterochromatin, determining regional mutation rates in cancer genomes.

Authors: Christina L Zheng; Nicholas J Wang; Jongsuk Chung; Homayoun Moslehi; J Zachary Sanborn; Joseph S Hur; Eric A Collisson; Swapna S Vemula; Agne Naujokas; Kami E Chiotti; Jeffrey B Cheng; Hiva Fassihi; Andrew J Blumberg; Celeste V Bailey; Gary M Fudem; Frederick G Mihm; Bari B Cunningham; Isaac M Neuhaus; Wilson Liao; Dennis H Oh; James E Cleaver; Philip E LeBoit; Joseph F Costello; Alan R Lehmann; Joe W Gray; Paul T Spellman; Sarah T Arron; Nam Huh; Elizabeth Purdom; Raymond J Cho
Journal: Cell Rep Date: 2014-11-20 Impact factor: 9.423

5. CTCF binding modulates UV damage formation to promote mutation hot spots in melanoma.

Authors: Smitha Sivapragasam; Bastian Stark; Amanda V Albrecht; Kaitlynne A Bohm; Peng Mao; Raymond G Emehiser; Steven A Roberts; Patrick J Hrdlicka; Gregory M K Poon; John J Wyrick
Journal: EMBO J Date: 2021-09-06 Impact factor: 14.012

6. Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging.

Authors: J E Cleaver; I Revet
Journal: Mech Ageing Dev Date: 2008-02-03 Impact factor: 5.432