Publications:
A selected list of publications:
Du Liutao, Jung Michael E, Damoiseaux Robert, Completo Gladys, Fike Francesca, Ku Jin-Mo, Nahas Shareef, Piao Cijing, Hu Hailiang, Gatti Richard A
A New Series of Small Molecular Weight Compounds Induce Read Through
of All Three Types of Nonsense Mutations in the ATM Gene
Molecular therapy : the journal of the American Society of Gene Therapy,
2013; 21(9):
1653-60.
Lee Peiyee, Martin Nathan T, Nakamura Kotoka, Azghadi Soheila, Amiri Mandana, Ben-David Uri, Perlman Susan, Gatti Richard A, Hu Hailiang, Lowry William E
SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia
in neural derivatives of patient-specific hiPSCs
Nature communications,
2013; 4(5):
1824.
Mansour Wael Y, Bogdanova Natalia V, Kasten-Pisula Ulla, Rieckmann Thorsten, Köcher Sabrina, Borgmann Kerstin, Baumann Michael, Krause Mechtild, Petersen Cordula, Hu Hailiang, Gatti Richard A, Dikomey Ekkehard, Dörk Thilo, Dahm-Daphi Jochen
Aberrant overexpression of miR-421 downregulates ATM and leads to a
pronounced DSB repair defect and clinical hypersensitivity in SKX
squamous cell carcinoma
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology,
2013; 106(1):
147-54.
Mancini Cecilia, Vaula Giovanna, Scalzitti Laura, Cavalieri Simona, Bertini Enrico, Aiello Chiara, Lucchini Cinzia, Gatti Richard A, Brussino Alessandro, Brusco Alfredo
Megalencephalic leukoencephalopathy with subcortical cysts type 1
(MLC1) due to a homozygous deep intronic splicing mutation
(c.895-226T>G) abrogated in vitro using an antisense morpholino
oligonucleotide
Neurogenetics,
2012; 13(3):
205-14.
Sherman Mara H, Kuraishy Ali I, Deshpande Chetan, Hong Jason S, Cacalano Nicholas A, Gatti Richard A, Manis John P, Damore Michael A, Pellegrini Matteo, Teitell Michael A
AID-induced genotoxic stress promotes B cell differentiation in the
germinal center via ATM and LKB1 signaling
Molecular cell,
2010; 39(6):
873-85.
Zha Shan, Bassing Craig H, Sanda Takaomi, Brush James W, Patel Harin, Goff Peter H, Murphy Michael M, Tepsuporn Suprawee, Gatti Richard A, Look A Thomas, Alt Frederick W
ATM-deficient thymic lymphoma is associated with aberrant tcrd
rearrangement and gene amplification
The Journal of experimental medicine,
2010; 207(7):
1369-80.
Bernstein Jonine L, Haile Robert W, Stovall Marilyn, Boice John D, Shore Roy E, Langholz Bryan, Thomas Duncan C, Bernstein Leslie, Lynch Charles F, Olsen Jorgen H, Malone Kathleen E, Mellemkjaer Lene, Borresen-Dale Anne-Lise, Rosenstein Barry S, Teraoka Sharon N, Diep Anh T, Smith Susan A, Capanu Marinela, Reiner Anne S, Liang Xiaolin, Gatti Richard A, Concannon Patrick, Concannon Patrick
Radiation exposure, the ATM Gene, and contralateral breast cancer in
the women's environmental cancer and radiation epidemiology study
Journal of the National Cancer Institute,
2010; 102(7):
475-83.
Kim Kwanghee, Pollard Julianne M, Norris Andrew J, McDonald J Tyson, Sun Yingli, Micewicz Ewa, Pettijohn Kelly, Damoiseaux Robert, Iwamoto Keisuke S, Sayre James W, Price Brendan D, Gatti Richard A, McBride William H
High-throughput screening identifies two classes of antibiotics as
radioprotectors: tetracyclines and fluoroquinolones
Clinical cancer research : an official journal of the American Association for Cancer Research,
2009; 15(23):
7238-45.
Morio Tomohiro, Takahashi Naomi, Watanabe Fumiaki, Honda Fumiko, Sato Masaki, Takagi Masatoshi, Imadome Ken-ichi, Miyawaki Toshio, Delia Domenico, Nakamura Kotoka, Gatti Richard A, Mizutani Shuki
Phenotypic variations between affected siblings with
ataxia-telangiectasia: ataxia-telangiectasia in Japan
International journal of hematology,
2009; 90(4):
455-62.
Du Liutao, Damoiseaux Robert, Nahas Shareef, Gao Kun, Hu Hailiang, Pollard Julianne M, Goldstine Jimena, Jung Michael E, Henning Susanne M, Bertoni Carmen, Gatti Richard A
Nonaminoglycoside compounds induce readthrough of nonsense mutations
The Journal of experimental medicine,
2009; 206(10):
2285-97.
Pollard Julianne M, Reboucas Julio S, Durazo Armando, Kos Ivan, Fike Francesca, Panni Moeen, Gralla Edith Butler, Valentine Joan Selverstone, Batinic-Haberle Ines, Gatti Richard A
Radioprotective effects of manganese-containing superoxide dismutase
mimics on ataxia-telangiectasia cells
Free radical biology & medicine,
2009; 47(3):
250-60.
Yanofsky Rochelle A, Seshia Sashi S, Dawson Angelika J, Stobart Kent, Greenberg Cheryl R, Booth Frances A, Prasad Chitra, Del Bigio Marc R, Wrogemann Jens J, Fike Francesca, Gatti Richard A
Ataxia-telangiectasia: atypical presentation and toxicity of cancer
treatment
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques,
2009; 36(4):
462-7.
Gatti Richard A, Perlman Susan
A proposed bailout for A-T patients?
European journal of neurology : the official journal of the European Federation of Neurological Societies,
2009; 16(6):
653-5.
Du L, Pollard JM, Gatti RA
Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides,
Proceedings of the National Academy of Science,
2007; 104:
6007-6012.
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Ambrose M, Goldstine JV, Gatti RA
Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells,
Hum Mol Genet,
2007; 16:
1-11.
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Landmark H, Nahas SA et al.
Transcriptional response to ionizing radiation in human radiation sensitive cell lines,
Radiotherapy and Oncology,
2007; 83:
256-260.
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Pashankar F, et al.
Intact T cell responses in ataxia telangiectasia,
Clin Immunol,
2006; 120:
158-162.
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Mitui M, Bernatowska E, Peitrucha B, et al.
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectsia,
Ann Hum Genet,
2005; 89:
1-8.
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Goldstine JV, Nahas, SA et al.
Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity,
DNA Repair,
2005; 5:
432-43.
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C-H Lai, HH Chun, SA Nahas, M Mitui, KM Gamo, L Du, RA Gatti
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons,
Proceedings of the National Academy of Science,
2004; 101:
15676-17681.
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Bernstein JL, Langholz B, Haile RW, Bernstein L, Thomas DC, Stovall M, Malone KE, Lynch CF, Olsen JH, Anton-Culver H, Shore RE, Boice Jr. JD, Berkowitz GS, Gatti RA, Teitelbaum SL, Smith SA, Rosenstein BS, Borresen-Dale AL, Concannon P, Thompson WD
Study design: evaluating gene-environment interactions in the etiology of breast cancer - the WECARE study
Breast Cancer Res,
2004; 6(3):
R199-214.
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, Gatti RA
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations
American journal of medical genetics. Part A. ,
2004; 126(1):
33-40.
Bernstein JL, Bernstein L, Thompson WD, Lynch CF, Malone KE, Teitelbaum SL, Olsen JH, Anton-Culver H, Boice JD, Rosenstein BS, Borresen-Dale AL, Gatti RA, Concannon P, Haile RW
ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer
Br J Cancer,
2003; 89(8):
1513-6.
Mitui M, Campbell C, Coutinho G, Sun X, Lai CH, Thorstenson Y, Castellvi-Bel S, Fernandez L, Monros E, Carvalho BT, Porras O, Fontan G, Gatti RA
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate
Human mutation. ,
2003; 22(1):
43-50.
Bernstein JL, Teraoka S, Haile RW, Borresen-Dale AL, Rosenstein BS, Gatti RA, Diep AT, Jansen L, Atencio DP, Olsen JH, Bernstein L, Teitelbaum SL, Thompson WD, Concannon P
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer
Hum Mutat,
2003; 21(5):
542-50.
Buzin CH, Gatti RA, Nguyen VQ, Wen CY, Mitui M, Sanal O, Chen JS, Nozari G, Mengos A, Li X, Fujimura F, Sommer SS
Comprehensive scanning of the ATM gene with DOVAM-S
Human mutation. ,
2003; 21(2):
123-31.
Chun HH et al
TCL-1, MTCP-1 and TML-1 gene expression profile in ataxia-telangiectasia patients with clonal proliferations or leukemia,
Internat J Cancer,
2002; 97:
726-731.
Sun X, Becker-Catania SG, Chun HH, Hwang MJ, Huo Y, Wang Z, Mitui M, Sanal O, Chessa L, Crandall B, Gatti RA
Early diagnosis of ataxia-telangiectasia using radiosensitivity testing
The Journal of pediatrics. ,
2002; 140(6):
724-31.
O'Driscoll M et al
DNA ligaseIV mutations identified in patients exhibiting developmental delay and immunodeficiency,
Molec Cell,
2001; 8:
1175-1185.
Zhao et al
A functional link between ATM kinase and NBS1 in the DNA damage response,
Nature,
2000; 405:
473-476.
Gatei M, Young D, Cerosaletti KM, Desai-Mehta A, Spring K, Kozlov S, Lavin MF, Gatti RA, Concannon P, Khanna K
ATM-dependent phosphorylation of nibrin in response to radiation exposure
Nature genetics. ,
2000; 25(1):
115-9.
Castellvi-Bel S, et al.
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy,
Am J Hum Genet,
1999; 14:
156-162.
Gatti RA
Ataxia-Telangiectasia,
The Genetic Basis of Human cancer,
1998; 1st:
275-300.
Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale AL, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti RA
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations
American journal of human genetics. ,
1998; 62(1):
86-97.
Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, Shiloh Y, Concannon P, Good RA, Gatti RA
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening
American journal of human genetics. ,
1996; 59(1):
40-4.