Results 41 to 50 of about 53,964 (227)

Ataxia-telangiectasia

Arquivos de Neuro-Psiquiatria, 1966
São apresentados os casos de dois irmãos com ataxia-telangiectasia, estudados sob os pontos de vista clínico, eletrencefalográfico, liquórico e encefalográfico.
Nelson Pires Ferreira
doaj   +1 more source

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

Case Reports in Genetics, 2020
Introduction. Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginning from
D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake   +6 more
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Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations

Oman Medical Journal, 2020
Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhoodonset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is
Majid Zaki-Dizaji, Mohammad Tajdini, Fatemeh Kiaee, Hossein Shojaaldini, Reza Shervin Badv, Hassan Abolhassani, Asghar Aghamohammadi   +6 more
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Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families [PDF]

, 2017
The introduction of multigene panel testing for hereditary breast/ovarian cancer screening has greatly improved efficiency, speed, and costs. However, its clinical utility is still debated, mostly due to the lack of conclusive evidences on the impact of ...
Antoniou, Antoniou, Belardinilli, Bernstein, Broeks, Brown, Buffone, Capalbo, Capalbo, Castera, Chen, Coppa, Couch, Cybulski, Daly, Desmond, Easton, Economopoulou, Foulkes, Gad, Giannini, Giannini, Goldgar, Kurian, LaDuca, Li, Lincoln, Lindor, Neitzel, Nicolussi, Os, Plon, Prodosmo, Rebbeck, Renwick, Sandoval, Steffensen, Stratton, Telatar, Thompson, Thompson, Tung, Walsh, Walsh, Weischer, Williams   +45 more
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Ataxia telangiectasia

Seminars in Pediatric Neurology, 1998
The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and intriguing to cell biologists as this classic disorder has been to clinicians for four decades. The phenotype is both variable and stereotyped, with significant differences between patients in the rate of ...
T, Fukao, H, Kaneko, N, Kondo
openaire   +4 more sources

An essential function for the ATR-Activation-Domain (AAD) of TopBP1 in mouse development and cellular senescence [PDF]

, 2013
ATR activation is dependent on temporal and spatial interactions with partner proteins. In the budding yeast model, three proteins – Dpb11TopBP1, Ddc1Rad9 and Dna2 - all interact with and activate Mec1ATR.
A Aguilera, A Balestrini, A Ciccia, A de Klein, A Kumagai, A Kumagai, A Mavrou, Anja Krueger, Antony M. Carr, C Cotta-Ramusino, Christopher Bruhn, Cong Liu, D Boos, D Branzei, D Cortez, DA Mordes, DA Mordes, EA Nam, EJ Brown, EJ Brown, FD Sweeney, H Wang, HL Ball, HY Yoo, J Lee, JE Kim, K Furuya, K Liu, K Liu, K Liu, K Liu, K Yamane, KA Cimprich, L Zou, L Zou, LA Lindsey-Boltz, LI Toledo, M Qu, Marshall S. Horwitz, O Limbo, P Bork, P Zegerman, PJ Woolf, R Gruber, RJ Edwards, S Biton, S Delacroix, S Kumar, S Liu, S Mochida, SJ Lin, SP Jackson, T Usui, Tang-Liang Li, V Garcia, VM Navadgi-Patil, VM Navadgi-Patil, WooKee Min, X Xu, X Yu, Y Jeon, Y Jeon, Y Lee, Z You, Z Zhou, Zhao-Qi Wang, Zhong-Wei Zhou, ZQ Wang   +67 more
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Ataxia-Telangiectasia

Pediatric Neurology Briefs, 1990
The proportion of T-cell antigen receptors in ten patients with ataxia-telangiectasia were compared with normal subjects and patients with other immune deficits at the Departments of Clinical Immunology and Pediatrics, University of Rome, “la Sapienza ...
J Gordon Millichap
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Activation of mammalian Chk1 during DNA replication arrest: a role for Chk1 in the intra-S phase checkpoint monitoring replication origin firing [PDF]

, 2001
Checkpoints maintain order and fidelity in the cell cycle by blocking late-occurring events when earlier events are improperly executed. Here we describe evidence for the participation of Chk1 in an intra-S phase checkpoint in mammalian cells.
Feijoo, Carmen, Gilbert, David M., Hall-Jackson, Clare, Jenkins, David, Leitch, Jane, Smythe, Carl, Wu, Rong   +6 more
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DNA strand break repair and neurodegeneration. [PDF]

, 2013
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive.
Abraham, Ahel, Alano, Alderton, Alter, Barbi, Barlow, Barnes, Bayatti, Bendixen, Bohr, Bootsma, Breslin, Brown, Buck, Buis, Caldecott, Caldecott, Caldecott, Cantoni, Chappell, Clements, Cortes Ledesma, Date, de Boer, de Boer, de Klein, de Vries, Delaval, Derheimer, Donahue, Durocher, El-Khamisy, El-Khamisy, El-Khamisy, Eliasson, Fattah, Frank, Frank, Frappart, Gao, Gao, Gatz, Goodship, Griffith, Gruber, Gueven, Henning, Hoeijmakers, Hoeijmakers, Jackson, Jeggo, Jilani, Kathe, Katyal, Keith W. Caldecott, Koch, Kuzminov, Lakin, Lakshmipathy, LaMonica, Le Ber, Lee, Lee, Lee, Lehmann, Letinic, Li, Licht, Lieber, Lindahl, Ljungman, Ljungman, Loizou, Luo, Mallery, Mao, Matsuura, Mayne, McKinnon, McKinnon, Mellon, Mischo, Mitchell, Moreira, Moreira, Moreno-Herrero, Morris, Moynahan, Mu, Murai, Murai, Murga, Nakane, Nance, Nilsen, Nussenzweig, Ogi, Okano, Orii, Osterod, Ouyang, O’Driscoll, O’Driscoll, O’Driscoll, Paula-Barbosa, Paull, Puebla-Osorio, Resnick, Revet, Reynolds, Reynolds, Rouse, Sanai, Schumacher, Shechter, Shen, Shiloh, Shull, Sidman, Skourti-Stathaki, Sleeth, Sonoda, Stefanini, Stewart, Stiff, Stuart L. Rulten, Sugasawa, Syljuasen, Takashima, Taylor, Tebbs, Theunissen, Thorslund, Uziel, van der Burg, van der Horst, Varon, Verhagen, Vinters, Virag, Vrouwe, Waltes, Weeda, Weterings, Whitehouse, Williams, Williams, Xu, Yu, Yu, Yuce, Zecevic, Zecevic, Zhou, Zhou, Zhu, Zou   +157 more
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Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia

Stem Cell Research, 2023
Ataxia-Telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by mutations in the ataxia-telangiectasia mutated (ATM) gene, resulting, among other symptoms, in neurological dysfunction.
Wasifa Nurieva, Elena Ivanova, Sanabel Chehab, Parth Singh, Marina Reichlmeir, Karoly Szuhai, Georg W.J. Auburger, William C. Skarnes, Zoltán Ivics   +8 more
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