Nahas S - Search Results

1

Assaying Radiosensitivity of Ataxia-Telangiectasia.

Hu H, Nahas S, Gatti RA. Hu H, et al. Among authors: nahas s. Methods Mol Biol. 2017;1599:1-11. doi: 10.1007/978-1-4939-6955-5_1. Methods Mol Biol. 2017. PMID: 28477107

2

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

Mitui M, Nahas SA, Du LT, Yang Z, Lai CH, Nakamura K, Arroyo S, Scott S, Purayidom A, Concannon P, Lavin M, Gatti RA. Mitui M, et al. Among authors: nahas sa. Hum Mutat. 2009 Jan;30(1):12-21. doi: 10.1002/humu.20805. Hum Mutat. 2009. PMID: 18634022 Free PMC article.

3

Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.

Devgan SS, Sanal O, Doil C, Nakamura K, Nahas SA, Pettijohn K, Bartek J, Lukas C, Lukas J, Gatti RA. Devgan SS, et al. Among authors: nahas sa. Cell Death Differ. 2011 Sep;18(9):1500-6. doi: 10.1038/cdd.2011.18. Epub 2011 Mar 11. Cell Death Differ. 2011. PMID: 21394101 Free PMC article.

4

ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

Mitui M, Bernatowska E, Pietrucha B, Piotrowska-Jastrzebska J, Eng L, Nahas S, Teraoka S, Sholty G, Purayidom A, Concannon P, Gatti RA. Mitui M, et al. Among authors: nahas s. Ann Hum Genet. 2005 Nov;69(Pt 6):657-64. doi: 10.1111/j.1529-8817.2005.00199.x. Ann Hum Genet. 2005. PMID: 16266405

5

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

Coutinho G, Mitui M, Campbell C, Costa Carvalho BT, Nahas S, Sun X, Huo Y, Lai CH, Thorstenson Y, Tanouye R, Raskin S, Kim CA, Llerena J Jr, Gatti RA. Coutinho G, et al. Among authors: nahas s. Am J Med Genet A. 2004 Apr 1;126A(1):33-40. doi: 10.1002/ajmg.a.20570. Am J Med Genet A. 2004. PMID: 15039971

6

Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity.

Goldstine JV, Nahas S, Gamo K, Gartler SM, Hansen RS, Roelfsema JH, Gatti RA, Marahrens Y. Goldstine JV, et al. Among authors: nahas s. DNA Repair (Amst). 2006 Apr 8;5(4):432-43. doi: 10.1016/j.dnarep.2005.12.002. Epub 2006 Jan 19. DNA Repair (Amst). 2006. PMID: 16426903

7

A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

Du L, Jung ME, Damoiseaux R, Completo G, Fike F, Ku JM, Nahas S, Piao C, Hu H, Gatti RA. Du L, et al. Among authors: nahas s. Mol Ther. 2013 Sep;21(9):1653-60. doi: 10.1038/mt.2013.150. Epub 2013 Jun 18. Mol Ther. 2013. PMID: 23774824 Free PMC article.

8

Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.

Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P, Gatti RA. Chun HH, et al. Among authors: nahas sa. Mol Genet Metab. 2003 Dec;80(4):437-43. doi: 10.1016/j.ymgme.2003.09.008. Mol Genet Metab. 2003. PMID: 14654357

9

Immunoassay to measure ataxia-telangiectasia mutated protein in cellular lysates.

Butch AW, Chun HH, Nahas SA, Gatti RA. Butch AW, et al. Clin Chem. 2004 Dec;50(12):2302-8. doi: 10.1373/clinchem.2004.039461. Epub 2004 Oct 14. Clin Chem. 2004. PMID: 15486025

10

Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.

Nahas SA, Butch AW, Du L, Gatti RA. Nahas SA, et al. Clin Chem. 2009 Mar;55(3):463-72. doi: 10.1373/clinchem.2008.107128. Epub 2009 Jan 15. Clin Chem. 2009. PMID: 19147735 Free PMC article.

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