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Items: 1 to 50 of 333

1.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D.

Am J Hum Genet. 2019 Aug 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017.

PMID:
31374204
2.

XPD/ERCC2 mutations interfere in cellular responses to oxidative stress.

Lerner LK, Moreno NC, Rocha CRR, Munford V, Santos V, Soltys DT, Garcia CCM, Sarasin A, Menck CFM.

Mutagenesis. 2019 Jul 26. pii: gez020. doi: 10.1093/mutage/gez020. [Epub ahead of print]

PMID:
31348825
3.

Psychological correlates of adherence to photoprotection in a rare disease: International survey of people with Xeroderma Pigmentosum.

Walburn J, Canfield M, Norton S, Sainsbury K, Araújo-Soares V, Foster L, Berneburg M, Sarasin A, Morrison-Bowen N, Sniehotta FF, Sarkany R, Weinman J.

Br J Health Psychol. 2019 Sep;24(3):668-686. doi: 10.1111/bjhp.12375. Epub 2019 Jun 10.

PMID:
31183946
4.

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect.

Kgokolo M, Morice-Picard F, Rezvani HR, Austerlitz F, Cartault F, Sarasin A, Sathekge M, Taieb A, Ged C.

Br J Dermatol. 2019 Apr 24. doi: 10.1111/bjd.18030. [Epub ahead of print] No abstract available.

PMID:
31017654
5.

Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

Sarasin A, Quentin S, Droin N, Sahbatou M, Saada V, Auger N, Boursin Y, Dessen P, Raimbault A, Asnafi V, Schmutz JL, Taïeb A, Menck CFM, Rosselli F, La Rochelle LD, Robert C, Sicre de Fontbrune F, Sébert M, Leblanc T, Kannouche P, De Botton S, Solary E, Soulier J.

Blood. 2019 Jun 20;133(25):2718-2724. doi: 10.1182/blood-2019-01-895698. Epub 2019 Mar 26. No abstract available.

6.

The key role of UVA-light induced oxidative stress in human Xeroderma Pigmentosum Variant cells.

Moreno NC, Garcia CCM, Munford V, Rocha CRR, Pelegrini AL, Corradi C, Sarasin A, Menck CFM.

Free Radic Biol Med. 2019 Feb 1;131:432-442. doi: 10.1016/j.freeradbiomed.2018.12.012. Epub 2018 Dec 13.

PMID:
30553972
7.

DNA repair deficiency sensitizes lung cancer cells to NAD+ biosynthesis blockade.

Touat M, Sourisseau T, Dorvault N, Chabanon RM, Garrido M, Morel D, Krastev DB, Bigot L, Adam J, Frankum JR, Durand S, Pontoizeau C, Souquère S, Kuo MS, Sauvaigo S, Mardakheh F, Sarasin A, Olaussen KA, Friboulet L, Bouillaud F, Pierron G, Ashworth A, Lombès A, Lord CJ, Soria JC, Postel-Vinay S.

J Clin Invest. 2018 Apr 2;128(4):1671-1687. doi: 10.1172/JCI90277. Epub 2018 Mar 19.

8.

Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.

De Palma A, Morren MA, Ged C, Pouvelle C, Taïeb A, Aoufouchi S, Sarasin A.

Am J Med Genet A. 2017 Sep;173(9):2511-2516. doi: 10.1002/ajmg.a.38340. Epub 2017 Jul 8.

PMID:
28688171
9.

Predominant role of DNA polymerase eta and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells.

Lerner LK, Francisco G, Soltys DT, Rocha CR, Quinet A, Vessoni AT, Castro LP, David TI, Bustos SO, Strauss BE, Gottifredi V, Stary A, Sarasin A, Chammas R, Menck CF.

Nucleic Acids Res. 2017 Feb 17;45(3):1270-1280. doi: 10.1093/nar/gkw1196.

10.

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.

Munford V, Castro LP, Souto R, Lerner LK, Vilar JB, Quayle C, Asif H, Schuch AP, de Souza TA, Ienne S, Alves FIA, Moura LMS, Galante PAF, Camargo AA, Liboredo R, Pena SDJ, Sarasin A, Chaibub SC, Menck CFM.

Br J Dermatol. 2017 May;176(5):1270-1278. doi: 10.1111/bjd.15084. Epub 2017 Mar 22.

PMID:
27664908
11.

Translesion synthesis mechanisms depend on the nature of DNA damage in UV-irradiated human cells.

Quinet A, Martins DJ, Vessoni AT, Biard D, Sarasin A, Stary A, Menck CF.

Nucleic Acids Res. 2016 Jul 8;44(12):5717-31. doi: 10.1093/nar/gkw280. Epub 2016 Apr 19.

12.

New Functional Signatures for Understanding Melanoma Biology from Tumor Cell Lineage-Specific Analysis.

Rambow F, Job B, Petit V, Gesbert F, Delmas V, Seberg H, Meurice G, Van Otterloo E, Dessen P, Robert C, Gautheret D, Cornell RA, Sarasin A, Larue L.

Cell Rep. 2015 Oct 27;13(4):840-853. doi: 10.1016/j.celrep.2015.09.037. Epub 2015 Oct 17.

13.

DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease.

Dupuy A, Sarasin A.

Mutat Res. 2015 Jun;776:2-8. doi: 10.1016/j.mrfmmm.2014.08.007. Epub 2014 Sep 6. Review.

PMID:
26255934
14.

Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome.

Chatre L, Biard DS, Sarasin A, Ricchetti M.

Proc Natl Acad Sci U S A. 2015 Jun 2;112(22):E2910-9. doi: 10.1073/pnas.1422264112. Epub 2015 May 18.

15.

Aberrant C-terminal domain of polymerase η targets the functional enzyme to the proteosomal degradation pathway.

Ahmed-Seghir S, Pouvelle C, Despras E, Cordonnier A, Sarasin A, Kannouche PL.

DNA Repair (Amst). 2015 May;29:154-65. doi: 10.1016/j.dnarep.2015.02.017. Epub 2015 Feb 26.

PMID:
25766642
16.

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Rivière JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L.

Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213. Epub 2014 Oct 15.

17.

Genetic variants in DNA repair pathways and risk of upper aerodigestive tract cancers: combined analysis of data from two genome-wide association studies in European populations.

Babron MC, Kazma R, Gaborieau V, McKay J, Brennan P, Sarasin A, Benhamou S.

Carcinogenesis. 2014 Jul;35(7):1523-7. doi: 10.1093/carcin/bgu075. Epub 2014 Mar 21.

PMID:
24658182
18.

Gap-filling and bypass at the replication fork are both active mechanisms for tolerance of low-dose ultraviolet-induced DNA damage in the human genome.

Quinet A, Vessoni AT, Rocha CR, Gottifredi V, Biard D, Sarasin A, Menck CF, Stary A.

DNA Repair (Amst). 2014 Feb;14:27-38. doi: 10.1016/j.dnarep.2013.12.005. Epub 2013 Dec 28.

PMID:
24380689
19.

Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™.

Dupuy A, Valton J, Leduc S, Armier J, Galetto R, Gouble A, Lebuhotel C, Stary A, Pâques F, Duchateau P, Sarasin A, Daboussi F.

PLoS One. 2013 Nov 13;8(11):e78678. doi: 10.1371/journal.pone.0078678. eCollection 2013.

20.

Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.

Opletalova K, Bourillon A, Yang W, Pouvelle C, Armier J, Despras E, Ludovic M, Mateus C, Robert C, Kannouche P, Soufir N, Sarasin A.

Hum Mutat. 2014 Jan;35(1):117-28.

PMID:
24130121
21.

Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.

Hadj-Rabia S, Oriot D, Soufir N, Dufresne H, Bourrat E, Mallet S, Poulhalon N, Ezzedine K, Grandchamp B, Taïeb A, Catteau B, Sarasin A, Bodemer C.

Br J Dermatol. 2013 May;168(5):1109-13. doi: 10.1111/bjd.12183. Erratum in: Br J Dermatol. 2013 Sep;169(3):726. Ezzedine, E [corrected to Ezzedine, K].

PMID:
23278166
22.

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

Soltys DT, Rocha CR, Lerner LK, de Souza TA, Munford V, Cabral F, Nardo T, Stefanini M, Sarasin A, Cabral-Neto JB, Menck CF.

Hum Mutat. 2013 Mar;34(3):481-9. doi: 10.1002/humu.22259. Epub 2013 Jan 17.

PMID:
23255472
23.
24.

A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines.

Carson C, Omolo B, Chu H, Zhou Y, Sambade MJ, Peters EC, Tompkins P, Simpson DA, Thomas NE, Fan C, Sarasin A, Dessen P, Shields JM, Ibrahim JG, Kaufmann WK.

Pigment Cell Melanoma Res. 2012 Jul;25(4):514-26. doi: 10.1111/j.1755-148X.2012.01010.x. Epub 2012 Jun 1.

25.

Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium.

Kazma R, Babron MC, Gaborieau V, Génin E, Brennan P, Hung RJ, McLaughlin JR, Krokan HE, Elvestad MB, Skorpen F, Anderssen E, Vooder T, Välk K, Metspalu A, Field JK, Lathrop M, Sarasin A, Benhamou S; ILCCO consortium.

Carcinogenesis. 2012 May;33(5):1059-64. doi: 10.1093/carcin/bgs116. Epub 2012 Mar 1.

26.

Skin tumors induced by sorafenib; paradoxic RAS-RAF pathway activation and oncogenic mutations of HRAS, TP53, and TGFBR1.

Arnault JP, Mateus C, Escudier B, Tomasic G, Wechsler J, Hollville E, Soria JC, Malka D, Sarasin A, Larcher M, André J, Kamsu-Kom N, Boussemart L, Lacroix L, Spatz A, Eggermont AM, Druillennec S, Vagner S, Eychène A, Dumaz N, Robert C.

Clin Cancer Res. 2012 Jan 1;18(1):263-72. doi: 10.1158/1078-0432.CCR-11-1344. Epub 2011 Nov 17.

27.

Preclinical corrective gene transfer in xeroderma pigmentosum human skin stem cells.

Warrick E, Garcia M, Chagnoleau C, Chevallier O, Bergoglio V, Sartori D, Mavilio F, Angulo JF, Avril MF, Sarasin A, Larcher F, Del Rio M, Bernerd F, Magnaldo T.

Mol Ther. 2012 Apr;20(4):798-807. doi: 10.1038/mt.2011.233. Epub 2011 Nov 8.

28.

Both XPA and DNA polymerase eta are necessary for the repair of doxorubicin-induced DNA lesions.

Moraes MC, de Andrade AQ, Carvalho H, Guecheva T, Agnoletto MH, Henriques JA, Sarasin A, Stary A, Saffi J, Menck CF.

Cancer Lett. 2012 Jan 1;314(1):108-18. doi: 10.1016/j.canlet.2011.09.019. Epub 2011 Sep 24.

29.

Trabectedin and its C subunit modified analogue PM01183 attenuate nucleotide excision repair and show activity toward platinum-resistant cells.

Soares DG, Machado MS, Rocca CJ, Poindessous V, Ouaret D, Sarasin A, Galmarini CM, Henriques JA, Escargueil AE, Larsen AK.

Mol Cancer Ther. 2011 Aug;10(8):1481-9. doi: 10.1158/1535-7163.MCT-11-0252. Epub 2011 May 27.

30.

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
31.

Transmembrane diffusion of gemcitabine by a nanoparticulate squalenoyl prodrug: an original drug delivery pathway.

Bildstein L, Dubernet C, Marsaud V, Chacun H, Nicolas V, Gueutin C, Sarasin A, Bénech H, Lepêtre-Mouelhi S, Desmaële D, Couvreur P.

J Control Release. 2010 Oct 15;147(2):163-70. doi: 10.1016/j.jconrel.2010.07.120. Epub 2010 Aug 5.

PMID:
20691740
32.

DNA repair pathways and human metastatic malignant melanoma.

Sarasin A, Dessen P.

Curr Mol Med. 2010 Jun;10(4):413-8. Review.

PMID:
20455851
33.

The NER proteins XPC and CSB, but not ERCC1, regulate the sensitivity to the novel DNA binder S23906: implications for recognition and repair of antitumor alkylators.

Rocca CJ, Poindessous V, Soares DG, Ouadrani KE, Sarasin A, Guérin E, de Gramont A, Henriques JA, Escargueil AE, Larsen AK.

Biochem Pharmacol. 2010 Aug 1;80(3):335-43. doi: 10.1016/j.bcp.2010.04.012. Epub 2010 Apr 22.

PMID:
20399198
34.

2nd German-French DNA repair meeting - DNA damage and repair in ageing and degenerative diseases, Konstanz, Germany, September 20-23, 2009.

Bürkle A, Sarasin A, Wiesmüller L.

Mech Ageing Dev. 2010 May;131(5):370-6. doi: 10.1016/j.mad.2010.03.003. Epub 2010 Mar 17.

PMID:
20302884
35.

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.

36.

Effect of the anti-neoplastic drug doxorubicin on XPD-mutated DNA repair-deficient human cells.

Saffi J, Agnoletto MH, Guecheva TN, Batista LF, Carvalho H, Henriques JA, Stary A, Menck CF, Sarasin A.

DNA Repair (Amst). 2010 Jan 2;9(1):40-7. doi: 10.1016/j.dnarep.2009.10.003. Epub 2009 Nov 17.

PMID:
19926538
37.

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
38.

New clinico-genetic classification of trichothiodystrophy.

Morice-Picard F, Cario-André M, Rezvani H, Lacombe D, Sarasin A, Taïeb A.

Am J Med Genet A. 2009 Sep;149A(9):2020-30. doi: 10.1002/ajmg.a.32902. Review.

PMID:
19681155
39.

Transcriptional mutagenesis induced by 8-oxoguanine in mammalian cells.

Brégeon D, Peignon PA, Sarasin A.

PLoS Genet. 2009 Jul;5(7):e1000577. doi: 10.1371/journal.pgen.1000577. Epub 2009 Jul 24.

40.

A backup role of DNA polymerase kappa in Ig gene hypermutation only takes place in the complete absence of DNA polymerase eta.

Faili A, Stary A, Delbos F, Weller S, Aoufouchi S, Sarasin A, Weill JC, Reynaud CA.

J Immunol. 2009 May 15;182(10):6353-9. doi: 10.4049/jimmunol.0900177.

41.

Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas.

Kannengiesser C, Spatz A, Michiels S, Eychène A, Dessen P, Lazar V, Winnepenninckx V, Lesueur F, Druillennec S, Robert C, van den Oord JJ, Sarasin A, Bressac-de Paillerets B; EORTC Melanoma group.

Mol Oncol. 2008 Apr;1(4):425-30. doi: 10.1016/j.molonc.2008.01.002. Epub 2008 Jan 12.

42.

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.

Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M.

Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. doi: 10.1073/pnas.0902113106. Epub 2009 Mar 27.

43.

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

Kannengiesser C, Brookes S, del Arroyo AG, Pham D, Bombled J, Barrois M, Mauffret O, Avril MF, Chompret A, Lenoir GM, Sarasin A; French Hereditary Melanoma Study Group, Peters G, Bressac-de Paillerets B.

Hum Mutat. 2009 Apr;30(4):564-74. doi: 10.1002/humu.20845.

PMID:
19260062
44.

Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.

Michiels S, Laplanche A, Boulet T, Dessen P, Guillonneau B, Méjean A, Desgrandchamps F, Lathrop M, Sarasin A, Benhamou S.

Carcinogenesis. 2009 May;30(5):763-8. doi: 10.1093/carcin/bgp046. Epub 2009 Feb 23.

PMID:
19237606
45.

Progress and prospects of xeroderma pigmentosum therapy.

Sarasin A.

Adv Exp Med Biol. 2008;637:144-51. Review. No abstract available.

PMID:
19181120
46.

Human DNA polymerase iota protects cells against oxidative stress.

Petta TB, Nakajima S, Zlatanou A, Despras E, Couve-Privat S, Ishchenko A, Sarasin A, Yasui A, Kannouche P.

EMBO J. 2008 Nov 5;27(21):2883-95. doi: 10.1038/emboj.2008.210. Epub 2008 Oct 16.

47.

Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.

Nishiwaki T, Kobayashi N, Iwamoto T, Yamamoto A, Sugiura S, Liu YC, Sarasin A, Okahashi Y, Hirano M, Ueno S, Mori T.

DNA Repair (Amst). 2008 Dec 1;7(12):1990-8. doi: 10.1016/j.dnarep.2008.08.009. Epub 2008 Oct 10.

PMID:
18817897
48.

A microarray to measure repair of damaged plasmids by cell lysates.

Millau JF, Raffin AL, Caillat S, Claudet C, Arras G, Ugolin N, Douki T, Ravanat JL, Breton J, Oddos T, Dumontet C, Sarasin A, Chevillard S, Favier A, Sauvaigo S.

Lab Chip. 2008 Oct;8(10):1713-22. doi: 10.1039/b806634e. Epub 2008 Aug 28.

PMID:
18813395
49.

Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival.

Jacobelli S, Soufir N, Lacapere JJ, Regnier S, Bourillon A, Grandchamp B, Hétet G, Pham D, Palangie A, Avril MF, Dupin N, Sarasin A, Gorin I.

Br J Dermatol. 2008 Sep;159(4):968-73. doi: 10.1111/j.1365-2133.2008.08791.x. Epub 2008 Aug 20.

PMID:
18717677
50.

Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome.

Chiganças V, Lima-Bessa KM, Stary A, Menck CF, Sarasin A.

Cancer Res. 2008 Aug 1;68(15):6074-83. doi: 10.1158/0008-5472.CAN-07-6695.

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