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Literature DB >> 15494443

The many faces of Cockayne syndrome.

Graciela Spivak¹.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2004 PMID： 15494443 PMCID： PMC524466 DOI： 10.1073/pnas.0406894101

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

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19 in total

1. DNA repair. The bases for Cockayne syndrome.

Authors: P C Hanawalt
Journal: Nature Date: 2000-05-25 Impact factor: 49.962

Review 2. Transcription-coupled repair of oxidative DNA damage in human cells: mechanisms and consequences.

Authors: S E Tsutakawa; P K Cooper
Journal: Cold Spring Harb Symp Quant Biol Date: 2000

3. The oxidative DNA lesion 8,5'-(S)-cyclo-2'-deoxyadenosine is repaired by the nucleotide excision repair pathway and blocks gene expression in mammalian cells.

Authors: P J Brooks; D S Wise; D A Berry; J V Kosmoski; M J Smerdon; R L Somers; H Mackie; A Y Spoonde; E J Ackerman; K Coleman; R E Tarone; J H Robbins
Journal: J Biol Chem Date: 2000-07-21 Impact factor: 5.157

4. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Authors: L B Meira; J M Graham; C R Greenberg; D B Busch; A T Doughty; D W Ziffer; D M Coleman; I Savre-Train; E C Friedberg
Journal: Am J Hum Genet Date: 2000-03-15 Impact factor: 11.025

5. Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome.

Authors: F Le Page; E E Kwoh; A Avrutskaya; A Gentil; S A Leadon; A Sarasin; P K Cooper
Journal: Cell Date: 2000-04-14 Impact factor: 41.582

6. Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress.

Authors: Jingsheng Tuo; Pawel Jaruga; Henry Rodriguez; Vilhelm A Bohr; Miral Dizdaroglu
Journal: FASEB J Date: 2003-04 Impact factor: 5.191

7. Removal of oxygen free-radical-induced 5',8-purine cyclodeoxynucleosides from DNA by the nucleotide excision-repair pathway in human cells.

Authors: I Kuraoka; C Bender; A Romieu; J Cadet; R D Wood; T Lindahl
Journal: Proc Natl Acad Sci U S A Date: 2000-04-11 Impact factor: 11.205

8. Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.

Authors: H Miyauchi-Hashimoto; T Akaeda; T Maihara; M Ikenaga; T Horio
Journal: J Am Acad Dermatol Date: 1998-10 Impact factor: 11.527

9. Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers.

Authors: Graciela Spivak; Toshiki Itoh; Tsukasa Matsunaga; Osamu Nikaido; Philip Hanawalt; Masaru Yamaizumi
Journal: DNA Repair (Amst) Date: 2002-08-06

10. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.

Authors: S Colella; T Nardo; E Botta; A R Lehmann; M Stefanini
Journal: Hum Mol Genet Date: 2000-05-01 Impact factor: 6.150

12 in total

The many faces of Cockayne syndrome.

1. DNA repair. The bases for Cockayne syndrome.

Review 2. Transcription-coupled repair of oxidative DNA damage in human cells: mechanisms and consequences.

3. The oxidative DNA lesion 8,5'-(S)-cyclo-2'-deoxyadenosine is repaired by the nucleotide excision repair pathway and blocks gene expression in mammalian cells.

4. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

5. Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome.

6. Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress.

7. Removal of oxygen free-radical-induced 5',8-purine cyclodeoxynucleosides from DNA by the nucleotide excision-repair pathway in human cells.

8. Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.

9. Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers.

10. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.

Review 1. Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.

Review 2. Retinitis pigmentosa, pigmentary retinopathies, and neurologic diseases.

Review 3. Cockayne syndrome in adults: review with clinical and pathologic study of a new case.

4. Discovery of protein interaction networks shared by diseases.

5. Molecular mechanistic associations of human diseases.

Review 6. Deciphering UV-induced DNA Damage Responses to Prevent and Treat Skin Cancer.

7. A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.

8. A possible cranio-oro-facial phenotype in Cockayne syndrome.

9. Analysis of the piggyBac transposase reveals a functional nuclear targeting signal in the 94 c-terminal residues.

10. Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome.