Gatti RA - Search Results

1

Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.

Gupta M, Liu X, Teraoka SN, Wright JA, Gatti RA, Quinlan A, Concannon P. Gupta M, et al. Among authors: gatti ra. Hum Mutat. 2021 Sep;42(9):1124-1138. doi: 10.1002/humu.24241. Epub 2021 Jul 6. Hum Mutat. 2021. PMID: 34153142

2

Rapid screen for truncating ATM mutations by PTT-ELISA.

Du L, Lai CH, Concannon P, Gatti RA. Du L, et al. Among authors: gatti ra. Mutat Res. 2008 Apr 2;640(1-2):139-44. doi: 10.1016/j.mrfmmm.2008.01.002. Epub 2008 Jan 31. Mutat Res. 2008. PMID: 18321536

3

Identification of ATIC as a Novel Target for Chemoradiosensitization.

Liu X, Paila UD, Teraoka SN, Wright JA, Huang X, Quinlan AR, Gatti RA, Concannon P. Liu X, et al. Among authors: gatti ra. Int J Radiat Oncol Biol Phys. 2018 Jan 1;100(1):162-173. doi: 10.1016/j.ijrobp.2017.08.033. Epub 2017 Sep 21. Int J Radiat Oncol Biol Phys. 2018. PMID: 29029884 Free PMC article.

4

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: gatti ra. Hum Mutat. 2009 Jan;30(1):12-21. doi: 10.1002/humu.20805. Hum Mutat. 2009. PMID: 18634022 Free PMC article.

5

Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.

Martin NT, Nakamura K, Paila U, Woo J, Brown C, Wright JA, Teraoka SN, Haghayegh S, McCurdy D, Schneider M, Hu H, Quinlan AR, Gatti RA, Concannon P. Martin NT, et al. Among authors: gatti ra. Cell Death Dis. 2014 Mar 20;5(3):e1130. doi: 10.1038/cddis.2014.99. Cell Death Dis. 2014. PMID: 24651433 Free PMC article.

6

Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

Bernstein JL, Teraoka S, Haile RW, Børresen-Dale AL, Rosenstein BS, Gatti RA, Diep AT, Jansen L, Atencio DP, Olsen JH, Bernstein L, Teitelbaum SL, Thompson WD, Concannon P; WECARE Study Collaborative Group. Bernstein JL, et al. Among authors: gatti ra. Hum Mutat. 2003 May;21(5):542-50. doi: 10.1002/humu.10206. Hum Mutat. 2003. PMID: 12673797

7

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

8

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.

Concannon P, Gatti RA. Concannon P, et al. Among authors: gatti ra. Hum Mutat. 1997;10(2):100-7. doi: 10.1002/(SICI)1098-1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O. Hum Mutat. 1997. PMID: 9259193 Review.

9

Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.

Gatti RA, Tward A, Concannon P. Gatti RA, et al. Mol Genet Metab. 1999 Dec;68(4):419-23. doi: 10.1006/mgme.1999.2942. Mol Genet Metab. 1999. PMID: 10607471 Review.

10

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: gatti ra. 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

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