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Results: 1 to 20 of 112

Similar articles for PubMed (Select 23143338)

1.

c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.

Senhaji MA, Abidi O, Nadifi S, Benchikhi H, Khadir K, Ben Rekaya M, Eloualid A, Messaoud O, Abdelhak S, Barakat A.

Arch Dermatol Res. 2013 Jan;305(1):53-7. doi: 10.1007/s00403-012-1299-0. Epub 2012 Nov 11.

PMID:
23143338
2.

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.

3.

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
4.

Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.

Messaoud O, Ben Rekaya M, Cherif W, Talmoudi F, Boussen H, Mokhtar I, Boubaker S, Amouri A, Abdelhak S, Zghal M.

Int J Dermatol. 2010 May;49(5):544-8. doi: 10.1111/j.1365-4632.2010.04421.x.

PMID:
20534089
5.

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.

Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H, Amouri A, Boussen H, Boubaker S, Mokni M, Mokthar I, Abdelhak S, Zghal M.

J Hum Genet. 2009 Jul;54(7):426-9. doi: 10.1038/jhg.2009.50. Epub 2009 May 29.

PMID:
19478817
6.

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
7.

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
8.

Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.

Nishigori C, Moriwaki S, Takebe H, Tanaka T, Imamura S.

Arch Dermatol. 1994 Feb;130(2):191-7.

PMID:
7905727
9.

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
10.

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.

11.

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.

12.

Xeroderma pigmentosum genes and melanoma risk.

Paszkowska-Szczur K, Scott RJ, Serrano-Fernandez P, Mirecka A, Gapska P, Górski B, Cybulski C, Maleszka R, Sulikowski M, Nagay L, Lubinski J, Dębniak T.

Int J Cancer. 2013 Sep 1;133(5):1094-100. doi: 10.1002/ijc.28123. Epub 2013 Mar 13.

PMID:
23436679
13.

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
14.

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.

16.

Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes.

Melis JP, Wijnhoven SW, Beems RB, Roodbergen M, van den Berg J, Moon H, Friedberg E, van der Horst GT, Hoeijmakers JH, Vijg J, van Steeg H.

Cancer Res. 2008 Mar 1;68(5):1347-53. doi: 10.1158/0008-5472.CAN-07-6067.

17.

Founder mutations in xeroderma pigmentosum.

Tamura D, DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2010 Jun;130(6):1491-3. doi: 10.1038/jid.2010.76.

18.

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
19.

Aberrant splicing and truncated-protein expression due to a newly identified XPA gene mutation.

Sato M, Nishigori C, Yagi T, Takebe H.

Mutat Res. 1996 Feb 15;362(2):199-208.

PMID:
8596539
20.

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.

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