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Results: 1 to 20 of 22

1.

Effects of bisphosphonate treatment on DNA methylation in osteonecrosis of the jaw.

Polidoro S, Broccoletti R, Campanella G, Di Gaetano C, Menegatti E, Scoletta M, Lerda E, Matullo G, Vineis P, Berardi D, Scully C, Arduino PG.

Mutat Res. 2013 Oct 9;757(2):104-13. doi: 10.1016/j.mrgentox.2013.07.003. Epub 2013 Jul 24.

PMID:
23892139
[PubMed - indexed for MEDLINE]
2.

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T.

Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25.

PMID:
23623389
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks.

Vélez-Cruz R, Egly JM.

Mech Ageing Dev. 2013 May-Jun;134(5-6):234-42. doi: 10.1016/j.mad.2013.03.004. Epub 2013 Apr 3. Review.

PMID:
23562425
[PubMed - indexed for MEDLINE]
4.

Cockayne syndrome: the expanding clinical and mutational spectrum.

Laugel V.

Mech Ageing Dev. 2013 May-Jun;134(5-6):161-70. doi: 10.1016/j.mad.2013.02.006. Epub 2013 Feb 18. Review.

PMID:
23428416
[PubMed - indexed for MEDLINE]
5.

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K.

Nat Genet. 2012 May;44(5):593-7. doi: 10.1038/ng.2228.

PMID:
22466612
[PubMed - indexed for MEDLINE]
6.

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T.

Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229.

PMID:
22466610
[PubMed - indexed for MEDLINE]
7.

Xeroderma pigmentosum complementation group C single-nucleotide polymorphisms in the nucleotide excision repair pathway correlate with prolonged progression-free survival in advanced ovarian cancer.

Fleming ND, Agadjanian H, Nassanian H, Miller CW, Orsulic S, Karlan BY, Walsh CS.

Cancer. 2012 Feb 1;118(3):689-97. doi: 10.1002/cncr.26329. Epub 2011 Jul 12. Erratum in: Cancer. 2012 Nov 1;118(21):5450.

PMID:
21751198
[PubMed - indexed for MEDLINE]
Free Article
8.

Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.

Zhang H, Gao J, Ye J, Gong Z, Gu X.

Eur J Med Genet. 2011 Jul-Aug;54(4):e389-93. doi: 10.1016/j.ejmg.2011.03.012. Epub 2011 Apr 6.

PMID:
21477668
[PubMed - indexed for MEDLINE]
9.

High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.

Khayat M, Hardouf H, Zlotogora J, Shalev SA.

Am J Med Genet A. 2010 Dec;152A(12):3091-4. doi: 10.1002/ajmg.a.33746.

PMID:
21108394
[PubMed - indexed for MEDLINE]
10.

XPC genetic polymorphisms correlate with the response to imatinib treatment in patients with chronic phase chronic myeloid leukemia.

Guillem VM, Cervantes F, Martínez J, Alvarez-Larrán A, Collado M, Camós M, Sureda A, Maffioli M, Marugán I, Hernández-Boluda JC.

Am J Hematol. 2010 Jul;85(7):482-6. doi: 10.1002/ajh.21726.

PMID:
20575039
[PubMed - indexed for MEDLINE]
11.

Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging.

Kamenisch Y, Fousteri M, Knoch J, von Thaler AK, Fehrenbacher B, Kato H, Becker T, Dollé ME, Kuiper R, Majora M, Schaller M, van der Horst GT, van Steeg H, Röcken M, Rapaport D, Krutmann J, Mullenders LH, Berneburg M.

J Exp Med. 2010 Feb 15;207(2):379-90. doi: 10.1084/jem.20091834. Epub 2010 Jan 25.

PMID:
20100872
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muñoz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, Dollfus H.

Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154.

PMID:
19894250
[PubMed - indexed for MEDLINE]
13.

Natural course of neonatal progeroid syndrome.

Hou JW.

Pediatr Neonatol. 2009 Jun;50(3):102-9. doi: 10.1016/S1875-9572(09)60044-9.

PMID:
19579756
[PubMed - indexed for MEDLINE]
14.

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

Janssen RJ, Distelmaier F, Smeets R, Wijnhoven T, Østergaard E, Jaspers NG, Raams A, Kemp S, Rodenburg RJ, Willems PH, van den Heuvel LP, Smeitink JA, Nijtmans LG.

Hum Mol Genet. 2009 Sep 15;18(18):3365-74. doi: 10.1093/hmg/ddp276. Epub 2009 Jun 12.

PMID:
19525295
[PubMed - indexed for MEDLINE]
Free Article
15.

Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene.

Conte C, D'Apice MR, Botta A, Sangiuolo F, Novelli G.

Genet Test Mol Biomarkers. 2009 Feb;13(1):127-31. doi: 10.1089/gtmb.2008.0092.

PMID:
19309286
[PubMed - indexed for MEDLINE]
16.

Schizosaccharomyces pombe Ddb1 recruits substrate-specific adaptor proteins through a novel protein motif, the DDB-box.

Fukumoto Y, Dohmae N, Hanaoka F.

Mol Cell Biol. 2008 Nov;28(22):6746-56. doi: 10.1128/MCB.00757-08. Epub 2008 Sep 15.

PMID:
18794354
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genetic evidence for ongoing balanced selection at human DNA repair genes ERCC8, FANCC, and RAD51C.

Wang ET, Moyzis RK.

Mutat Res. 2007 Mar 1;616(1-2):165-74. Epub 2007 Jan 25.

PMID:
17257630
[PubMed - indexed for MEDLINE]
18.

A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.

Kleppa L, Kanavin ØJ, Klungland A, Strømme P.

Neuroscience. 2007 Apr 14;145(4):1397-406. Epub 2006 Nov 2.

PMID:
17084038
[PubMed - indexed for MEDLINE]
19.

Cockayne syndrome type A: novel mutations in eight typical patients.

Bertola DR, Cao H, Albano LM, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA.

J Hum Genet. 2006;51(8):701-5. Epub 2006 Jul 25.

PMID:
16865293
[PubMed - indexed for MEDLINE]
20.

Cockayne's syndrome: a case report. Literature review.

Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC.

Med Oral Patol Oral Cir Bucal. 2006 May 1;11(3):E236-8. Review.

PMID:
16648759
[PubMed - indexed for MEDLINE]
Free Article

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