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Items: 1 to 20 of 187

1.

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.

Colella S, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.

Hum Mol Genet. 1999 May;8(5):935-41.

PMID:
10196384
2.

Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.

Selzer RR, Nyaga S, Tuo J, May A, Muftuoglu M, Christiansen M, Citterio E, Brosh RM Jr, Bohr VA.

Nucleic Acids Res. 2002 Feb 1;30(3):782-93.

3.

Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.

Laugel V, Dalloz C, Stary A, Cormier-Daire V, Desguerre I, Renouil M, Fourmaintraux A, Velez-Cruz R, Egly JM, Sarasin A, Dollfus H.

Eur J Hum Genet. 2008 Mar;16(3):320-7. doi: 10.1038/sj.ejhg.5201991. Epub 2008 Jan 9.

4.

Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.

Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K.

Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15410-5. Epub 2004 Oct 14.

5.

The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair.

Brosh RM Jr, Balajee AS, Selzer RR, Sunesen M, Proietti De Santis L, Bohr VA.

Mol Biol Cell. 1999 Nov;10(11):3583-94.

6.

Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6.

Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M.

Am J Med Genet A. 2008 Jun 1;146A(11):1423-9. doi: 10.1002/ajmg.a.32309.

PMID:
18446857
8.

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al.

Am J Hum Genet. 1995 Jan;56(1):167-74. Review.

9.

The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells.

Kyng KJ, May A, Brosh RM Jr, Cheng WH, Chen C, Becker KG, Bohr VA.

Oncogene. 2003 Feb 27;22(8):1135-49.

PMID:
12606941
10.

Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription.

van Hoffen A, Kalle WH, de Jong-Versteeg A, Lehmann AR, van Zeeland AA, Mullenders LH.

Nucleic Acids Res. 1999 Jul 15;27(14):2898-904.

11.

Molecular characterization of an acidic region deletion mutant of Cockayne syndrome group B protein.

Sunesen M, Selzer RR, Brosh RM Jr, Balajee AS, Stevnsner T, Bohr VA.

Nucleic Acids Res. 2000 Aug 15;28(16):3151-9.

12.

Three novel mutations responsible for Cockayne syndrome group A.

Ren Y, Saijo M, Nakatsu Y, Nakai H, Yamaizumi M, Tanaka K.

Genes Genet Syst. 2003 Feb;78(1):93-102.

13.
14.

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taïeb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A.

Am J Hum Genet. 1997 Feb;60(2):320-9.

15.

Role of the ATPase domain of the Cockayne syndrome group B protein in UV induced apoptosis.

Balajee AS, Proietti De Santis L, Brosh RM Jr, Selzer R, Bohr VA.

Oncogene. 2000 Jan 27;19(4):477-89.

16.

Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.

van der Horst GT, van Steeg H, Berg RJ, van Gool AJ, de Wit J, Weeda G, Morreau H, Beems RB, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH.

Cell. 1997 May 2;89(3):425-35.

17.

Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein.

Citterio E, Rademakers S, van der Horst GT, van Gool AJ, Hoeijmakers JH, Vermeulen W.

J Biol Chem. 1998 May 8;273(19):11844-51.

19.

Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.

Horibata K, Saijo M, Bay MN, Lan L, Kuraoka I, Brooks PJ, Honma M, Nohmi T, Yasui A, Tanaka K.

Genes Cells. 2011 Jan;16(1):101-14. doi: 10.1111/j.1365-2443.2010.01467.x. Epub 2010 Dec 9.

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