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High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC.
Sands AT, Abuin A, Sanchez A, Conti CJ, Bradley A. Sands AT, et al. Nature. 1995 Sep 14;377(6545):162-5. doi: 10.1038/377162a0. Nature. 1995. PMID: 7675084
Cell fusion studies have revealed eight complementation groups in XP (A-G, and an XP-variant form); group C is one of the most common forms of the disease. We have isolated a mouse homologue of the human gene for XP group C and generated XPC-deficient mice by using …
Cell fusion studies have revealed eight complementation groups in XP (A-G, and an XP-variant form); group C is one of the most common …
p53 deficiency does not affect the accumulation of point mutations in a transgene target.
Sands AT, Suraokar MB, Sanchez A, Marth JE, Donehower LA, Bradley A. Sands AT, et al. Proc Natl Acad Sci U S A. 1995 Aug 29;92(18):8517-21. doi: 10.1073/pnas.92.18.8517. Proc Natl Acad Sci U S A. 1995. PMID: 7667322 Free PMC article.
Mammalian cells that have been treated with agents that damage DNA have an increase in p53 levels, a p53-dependent arrest at G1 in the cell cycle, and a p53-dependent apoptotic response. ...This hypothesis predicts that p53-deficient cells would have an abnormal apo …
Mammalian cells that have been treated with agents that damage DNA have an increase in p53 levels, a p53-dependent arrest at G1 in th …
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Desmyter L, Ghassibe M, Revencu N, Boute O, Lees M, François G, Verellen-Dumoulin C, Sznajer Y, Moncla A, Benateau H, Claes K, Devriendt K, Mathieu M, Van Maldergem L, Addor MC, Drouin-Garraud V, Mortier G, Bouma M, Dieux-Coeslier A, Genevieve D, Goldenberg A, Gozu A, Makrythanasis P, McEntagart U, Sanchez A, Vilain C, Vermeer S, Connell F, Verheij J, Manouvrier S, Pierquin G, Odent S, Holder-Espinasse M, Vincent-Delorme C, Gillerot Y, Vanwijck R, Bayet B, Vikkula M. Desmyter L, et al. Mol Syndromol. 2010;1(2):67-74. doi: 10.1159/000313786. Epub 2010 Jun 9. Mol Syndromol. 2010. PMID: 21045959 Free PMC article.
A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). ...In a 3rd multiplex family (family C), a de novo mutation wa
A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observe
The reaction mechanism of DNA glycosylase/AP lyases at abasic sites.
McCullough AK, Sanchez A, Dodson ML, Marapaka P, Taylor JS, Lloyd RS. McCullough AK, et al. Biochemistry. 2001 Jan 16;40(2):561-8. doi: 10.1021/bi002404+. Biochemistry. 2001. PMID: 11148051
Using a methyl-deoxyribofuranose AP-site analogue that is incapable of undergoing sugar ring opening, it was demonstrated that the T4-pdg reaction can initiate at the ring-closed form, albeit at a drastically reduced rate. ...This is consistent with a mechani …
Using a methyl-deoxyribofuranose AP-site analogue that is incapable of undergoing sugar ring opening, it was demonstrated that the T4 …
Rapid prenatal diagnosis of aneuploidies and zygosity in multiple pregnancies by amniocentesis with single insertion of the needle and quantitative fluorescent PCR.
Cirigliano V, Cañadas P, Plaja A, Ordoñez E, Mediano C, Sánchez A, Farrán I. Cirigliano V, et al. Prenat Diagn. 2003 Aug;23(8):629-33. doi: 10.1002/pd.655. Prenat Diagn. 2003. PMID: 12913868
Contamination between fetuses due to the sampling procedure with a single puncture was never observed. CONCLUSION: Rapid prenatal diagnosis of aneuploidies by QF-PCR is a sensitive, efficient, and reliable assay. ...
Contamination between fetuses due to the sampling procedure with a single puncture was never observed. CONCLUSION: Rapid prenatal dia …
Pregnancy-Associated Breast Cancer: A Multidisciplinary Approach.
Paris I, Di Giorgio D, Carbognin L, Corrado G, Garganese G, Franceschini G, Sanchez AM, De Vincenzo RP, Accetta C, Terribile DA, Magno S, Di Leone A, Bove S, Masetti R, Scambia G. Paris I, et al. Among authors: sanchez am. Clin Breast Cancer. 2020 Jul 20:S1526-8209(20)30173-7. doi: 10.1016/j.clbc.2020.07.007. Online ahead of print. Clin Breast Cancer. 2020. PMID: 32778512 Review.
Endoscopic ultrasound (EUS) guided choledocoduodenostomy in a patient with irresecable pancreas cancer and biliar obstruction using a luminal apposing metal stent (LAMS).
Pinto-Carta R, Solano J, Cabrera LF, Sanchez A, Moreno L, Pedraza M. Pinto-Carta R, et al. Among authors: sanchez a. Int J Surg Case Rep. 2020 Jul 24;74:23-26. doi: 10.1016/j.ijscr.2020.07.041. Online ahead of print. Int J Surg Case Rep. 2020. PMID: 32771936 Free PMC article.
Update to the ASFA guidelines on the use of therapeutic apheresis in ANCA-associated vasculitis.
Balogun RA, Sanchez AP, Klingel R, Witt V, Aqui N, Meyer E, Padmanabhan A, Pham HP, Schneiderman J, Schwartz J, Wu Y, Zantek ND, Connelly-Smith L, Dunbar NM. Balogun RA, et al. Among authors: sanchez ap. J Clin Apher. 2020 Aug 7. doi: 10.1002/jca.21820. Online ahead of print. J Clin Apher. 2020. PMID: 32770558
Genetic variability of the U5 and downstream sequence of major HIV-1 subtypes and circulating recombinant forms.
Mbondji-Wonje C, Dong M, Zhao J, Wang X, Nanfack A, Ragupathy V, Sanchez AM, Denny TN, Hewlett I. Mbondji-Wonje C, et al. Among authors: sanchez am. Sci Rep. 2020 Aug 6;10(1):13214. doi: 10.1038/s41598-020-70083-1. Sci Rep. 2020. PMID: 32764600 Free PMC article.
APPEAL-2: a pan-European qualitative study to explore the burden of peanut-allergic children, teenagers, and their caregivers.
DunnGalvin A, Gallop K, Acaster S, Timmermans F, Regent L, Schnadt S, Podestà M, Sánchez A, Ryan R, Couratier P, Feeney M, Hjorth B, Fisher HR, Blumchen K, Vereda A, Fernández-Rivas M. DunnGalvin A, et al. Among authors: sanchez a. Clin Exp Allergy. 2020 Aug 5. doi: 10.1111/cea.13719. Online ahead of print. Clin Exp Allergy. 2020. PMID: 32757478
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