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Items: 1 to 20 of 137

1.

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

Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH.

Carcinogenesis. 2006 Jan;27(1):84-94. Epub 2005 Aug 4.

PMID:
16081512
2.

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.

Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH.

Hum Mol Genet. 2004 Feb 1;13(3):343-52. Epub 2003 Dec 8.

PMID:
14662655
3.

Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.

Schäfer A, Hofmann L, Gratchev A, Laspe P, Schubert S, Schürer A, Ohlenbusch A, Tzvetkov M, Hallermann C, Reichrath J, Schön MP, Emmert S.

Exp Dermatol. 2013 Jan;22(1):24-9. doi: 10.1111/exd.12052. Epub 2012 Nov 22.

PMID:
23173980
4.

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

Kuschal C, DiGiovanna JJ, Khan SG, Gatti RA, Kraemer KH.

Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19483-8. doi: 10.1073/pnas.1312088110. Epub 2013 Nov 11.

5.

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A.

J Invest Dermatol. 2010 Jun;130(6):1537-42. doi: 10.1038/jid.2009.409. Epub 2010 Jan 7.

6.

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

Chavanne F, Broughton BC, Pietra D, Nardo T, Browitt A, Lehmann AR, Stefanini M.

Cancer Res. 2000 Apr 1;60(7):1974-82.

7.

A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.

Gozukara EM, Khan SG, Metin A, Emmert S, Busch DB, Shahlavi T, Coleman DM, Miller M, Chinsomboon N, Stefanini M, Kraemer KH.

J Invest Dermatol. 2001 Aug;117(2):197-204.

8.

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.

Khan SG, Yamanegi K, Zheng ZM, Boyle J, Imoto K, Oh KS, Baker CC, Gozukara E, Metin A, Kraemer KH.

Hum Mutat. 2010 Feb;31(2):167-75. doi: 10.1002/humu.21166.

9.

Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.

Bensenouci S, Louhibi L, De Verneuil H, Mahmoudi K, Saidi-Mehtar N.

Biomed Res Int. 2016;2016:2180946. doi: 10.1155/2016/2180946. Epub 2016 Jun 20.

10.

Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.

Kuschal C, Khan SG, Enk B, DiGiovanna JJ, Kraemer KH.

Exp Dermatol. 2015 Apr;24(4):296-7. doi: 10.1111/exd.12655. Epub 2015 Mar 23.

PMID:
25651777
11.

Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.

Slor H, Batko S, Khan SG, Sobe T, Emmert S, Khadavi A, Frumkin A, Busch DB, Albert RB, Kraemer KH.

J Invest Dermatol. 2000 Dec;115(6):974-80.

12.

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.

Rivera-Begeman A, McDaniel LD, Schultz RA, Friedberg EC.

DNA Repair (Amst). 2007 Jan 4;6(1):100-14. Epub 2006 Oct 31.

PMID:
17079196
13.

Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.

Khan SG, Levy HL, Legerski R, Quackenbush E, Reardon JT, Emmert S, Sancar A, Li L, Schneider TD, Cleaver JE, Kraemer KH.

J Invest Dermatol. 1998 Nov;111(5):791-6. Erratum in: J Invest Dermatol 1999 Mar;112(3):402.

14.

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.

Hum Mutat. 2008 Oct;29(10):1194-208. doi: 10.1002/humu.20768.

15.

Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.

Amr K, Messaoud O, El Darouti M, Abdelhak S, El-Kamah G.

Gene. 2014 Jan 1;533(1):52-6. doi: 10.1016/j.gene.2013.09.125. Epub 2013 Oct 14.

PMID:
24135642
16.

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.

Khan SG, Oh KS, Emmert S, Imoto K, Tamura D, Digiovanna JJ, Shahlavi T, Armstrong N, Baker CC, Neuburg M, Zalewski C, Brewer C, Wiggs E, Schiffmann R, Kraemer KH.

DNA Repair (Amst). 2009 Jan 1;8(1):114-25. doi: 10.1016/j.dnarep.2008.09.007. Epub 2008 Nov 14.

17.

Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.

Doubaj Y, Laarabi FZ, Elalaoui SC, Barkat A, Sefiani A.

J Dermatol. 2012 Apr;39(4):382-4. doi: 10.1111/j.1346-8138.2011.01453.x. Epub 2011 Dec 29.

PMID:
22211393
18.

A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.

Cartault F, Nava C, Malbrunot AC, Munier P, Hebert JC, N'guyen P, Djeridi N, Pariaud P, Pariaud J, Dupuy A, Austerlitz F, Sarasin A.

DNA Repair (Amst). 2011 Jun 10;10(6):577-85. doi: 10.1016/j.dnarep.2011.03.005. Epub 2011 Apr 8.

PMID:
21482201
19.

Xeroderma pigmentosum-variant patients from America, Europe, and Asia.

Inui H, Oh KS, Nadem C, Ueda T, Khan SG, Metin A, Gozukara E, Emmert S, Slor H, Busch DB, Baker CC, DiGiovanna JJ, Tamura D, Seitz CS, Gratchev A, Wu WH, Chung KY, Chung HJ, Azizi E, Woodgate R, Schneider TD, Kraemer KH.

J Invest Dermatol. 2008 Aug;128(8):2055-68. doi: 10.1038/jid.2008.48. Epub 2008 Mar 27.

20.

Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer.

Muotri AR, Marchetto MC, Zerbini LF, Libermann TA, Ventura AM, Sarasin A, Menck CF.

Hum Gene Ther. 2002 Oct 10;13(15):1833-44.

PMID:
12396616

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