Gatti RA - Search Results

1

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: gatti ra. 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

2

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons.

Lai CH, Chun HH, Nahas SA, Mitui M, Gamo KM, Du L, Gatti RA. Lai CH, et al. Among authors: gatti ra. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15676-81. doi: 10.1073/pnas.0405155101. Epub 2004 Oct 21. Proc Natl Acad Sci U S A. 2004. PMID: 15498871 Free PMC article.

3

Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells.

Ambrose M, Goldstine JV, Gatti RA. Ambrose M, et al. Among authors: gatti ra. Hum Mol Genet. 2007 Sep 15;16(18):2154-64. doi: 10.1093/hmg/ddm166. Epub 2007 Jul 2. Hum Mol Genet. 2007. PMID: 17606465

4

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: gatti ra. Mol Genet Metab. 2003 Dec;80(4):437-43. doi: 10.1016/j.ymgme.2003.09.008. Mol Genet Metab. 2003. PMID: 14654357

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: gatti ra. 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

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

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

7

Post-irradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathway.

Nahas SA, Lai CH, Gatti RA. Nahas SA, et al. Among authors: gatti ra. Int J Radiat Oncol Biol Phys. 2005 Mar 15;61(4):1167-72. doi: 10.1016/j.ijrobp.2004.11.023. Int J Radiat Oncol Biol Phys. 2005. PMID: 15752898

8

Inhibition of Atm and/or Atr disrupts gene silencing on the inactive X chromosome.

Ouyang Y, Salstrom J, Diaz-Perez S, Nahas S, Matsuno Y, Dawson D, Teitell MA, Horvath S, Riggs AD, Gatti RA, Marahrens Y. Ouyang Y, et al. Among authors: gatti ra. Biochem Biophys Res Commun. 2005 Nov 25;337(3):875-80. doi: 10.1016/j.bbrc.2005.09.122. Epub 2005 Sep 29. Biochem Biophys Res Commun. 2005. PMID: 16213462

9

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. Among authors: gatti ra. 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.

10

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

Du L, Damoiseaux R, Nahas S, Gao K, Hu H, Pollard JM, Goldstine J, Jung ME, Henning SM, Bertoni C, Gatti RA. Du L, et al. Among authors: gatti ra. J Exp Med. 2009 Sep 28;206(10):2285-97. doi: 10.1084/jem.20081940. Epub 2009 Sep 21. J Exp Med. 2009. PMID: 19770270 Free PMC article.

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