A-T(Winnipeg): Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening r...

por Nakamura, Kotoka, Fike, Francesca, Haghayegh, Sara, Saunders-Pullman, Rachel, Dawson, Angelika J, Dörk, Thilo, Gatti, Richard A
Publicado 2014

ATM–Dependent MiR-335 Targets CtIP and Modulates the DNA Damage Response

por Martin, Nathan T., Nakamura, Kotoka, Davies, Robert, Nahas, Shareef A., Brown, Christina, Tunuguntla, Rashmi, Gatti, Richard A., Hu, Hailiang
Publicado 2013

DNA repair in lupus

por Xu, Jiadi, Patel, Zubin, Kottyan, Leah, Gatti, Richard A, McCurdy, Deborah K, Kaufman, Kenneth M, Harley, John B
Publicado 2014

Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells

por Pan-Hammarström, Qiang, Jones, Anne-Marie, Lähdesmäki, Aleksi, Zhou, Wei, Gatti, Richard A., Hammarström, Lennart, Gennery, Andrew R., Ehrenstein, Michael R.
Publicado 2005

Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)

por Patel, Jay P., Puck, Jennifer M., Srinivasan, Rajgopal, Brown, Christina, Sunderam, Uma, Kundu, Kunal, Brenner, Steven E., Gatti, Richard A., Church, Joseph A.
Publicado 2015

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

por Gómez-Grau, Marta, Garrido, Elena, Cozar, Mónica, Rodriguez-Sureda, Víctor, Domínguez, Carmen, Arenas, Concepción, Gatti, Richard A., Cormand, Bru, Grinberg, Daniel, Vilageliu, Lluïsa
Publicado 2015

Nonaminoglycoside compounds induce readthrough of nonsense mutations

por 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.
Publicado 2009

ATM-deficient thymic lymphoma is associated with aberrant tcrd rearrangement and gene amplification

por 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.
Publicado 2010

Viral Burden and Clearance in Asymptomatic COVID-19 Patients

por Gunatilaka, Avanka B, Marco, Nicholas, Read, Graham H, Sweeney, Maggie, Regan, Greg, Tsang, Cynthia, Abdulrahman, Lobna, Ampabathina, Swetha, Spindler, Archie, Lu, Sarah S, Schink, Elena, Gatti, Richard, Ingersoll, Christina, Telesca, Donatello, Weidhaas, Joanne B
Publicado 2022

Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders

por Stewart, Douglas R., Pemov, Alexander, Johnston, Jennifer J., Sapp, Julie C., Yeager, Meredith, He, Ji, Boland, Joseph F., Burdett, Laurie, Brown, Christina, Gatti, Richard A., Alter, Blanche P., Biesecker, Leslie G., Savage, Sharon A.
Publicado 2014

A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation

por Perez, Harvey, Abdallah, May F, Chavira, Jose I, Norris, Angelina S, Egeland, Martin T, Vo, Karen L, Buechsenschuetz, Callan L, Sanghez, Valentina, Kim, Jeannie L, Pind, Molly, Nakamura, Kotoka, Hicks, Geoffrey G, Gatti, Richard A, Madrenas, Joaquin, Iacovino, Michelina, McKinnon, Peter J, Mathews, Paul J
Publicado 2021

Study design: Evaluating gene–environment interactions in the etiology of breast cancer – the WECARE study

por Bernstein, Jonine L, Langholz, Bryan, Haile, Robert W, Bernstein, Leslie, Thomas, Duncan C, Stovall, Marilyn, Malone, Kathleen E, Lynch, Charles F, Olsen, Jørgen H, Anton-Culver, Hoda, Shore, Roy E, Boice, John D, Berkowitz, Gertrud S, Gatti, Richard A, Teitelbaum, Susan L, Smith, Susan A, Rosenstein, Barry S, Børresen-Dale, Anne-Lise, Concannon, Patrick, Thompson, W Douglas
Publicado 2004

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

por Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P
Publicado 2014