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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.


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.


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.


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.


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.


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.


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.


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.


In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation.

Yasuda G, Nishi R, Watanabe E, Mori T, Iwai S, Orioli D, Stefanini M, Hanaoka F, Sugasawa K.

Mol Cell Biol. 2007 Oct;27(19):6606-14.


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.


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.


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.


Nucleotide excision repair activity on DNA damage induced by photoactivated methylene blue.

Berra CM, de Oliveira CS, Garcia CC, Rocha CR, Lerner LK, Lima LC, Baptista Mda S, Menck CF.

Free Radic Biol Med. 2013 Aug;61:343-56. doi: 10.1016/j.freeradbiomed.2013.03.026.


Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells.

Oh KS, Imoto K, Emmert S, Tamura D, DiGiovanna JJ, Kraemer KH.

Photochem Photobiol. 2011 May-Jun;87(3):729-33. doi: 10.1111/j.1751-1097.2011.00909.x.


Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum.

Pawsey SA, Magnus IA, Ramsay CA, Benson PF, Giannelli F.

Q J Med. 1979 Apr;48(190):179-210.

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