Results 21 to 30 of about 35,381 (234)

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene [PDF]

Journal of Integrative Neuroscience, 2020
Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare.
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
doaj   +1 more source

Ataxia-Telangiectasia Familiar: Un reporte de casos

Revista de la Facultad de Medicina, 2023
Ataxia Telangiectasia (A-T) es una enfermedad autosómica recesiva (OMIM #208900) con afección neurológica severa, como primer síntoma típico siendo la ataxia cerebelosa.
Anna Yurrita, Marcela Elizabeth Orozco Orozco , Julio Rafael Cabrera Valverde, María Antonieta Sandoval Vargas   +3 more
doaj   +1 more source

It takes three to the DNA damage response tango

Molecular & Cellular Oncology, 2021
The DNA damage response is robustly activated by DNA double-strand breaks and controlled by three apical protein kinases of the PI3-kinase-related protein kinase (PIKK) family: ataxia-telangiectasia, mutated (ATM), ataxia-telangiectasia and Rad3-related (
Sapir Schlam-Babayov, Yael Ziv, Yosef Shiloh   +2 more
doaj   +1 more source

c‐Rel–dependent Chk2 signaling regulates the DNA damage response limiting hepatocarcinogenesis

Hepatology, EarlyView., 2022
In response to genotoxic injury, c‐Rel upregulates ATM‐Chk2‐p53 pathway DNA damage proteins to limiting hepatocarcinogenesis. Abstract Background and Aims Hepatocellular carcinoma (HCC) is a leading cause of cancer‐related death. The NF‐κB transcription factor family subunit c‐Rel is typically protumorigenic; however, it has recently been reported as a
Jack Leslie, Jill E. Hunter, Amy Collins, Amelia Rushton, Lauren G. Russell, Erik Ramon‐Gil, Maja Laszczewska, Misti McCain, Marco Y. W. Zaki, Amber Knox, Yixin Seow, Laura Sabater, Daniel Geh, Neil D. Perkins, Helen L. Reeves, Dina Tiniakos, Derek A. Mann, Fiona Oakley   +17 more
wiley   +1 more source

Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants

Haematologica, 2015
Inactivation of the Ataxia Telangiectasia Mutated gene in chronic lymphocytic leukemia results in resistance to p53-dependent apoptosis and inferior responses to treatment with DNA damaging agents. Hence, p53-independent strategies are required to target
Angelo Agathanggelou, Victoria J. Weston, Tracey Perry, Nicholas J. Davies, Anna Skowronska, Daniel T. Payne, John S. Fossey, Ceri E. Oldreive, Wenbin Wei, Guy Pratt, Helen Parry, David Oscier, Steve J. Coles, Paul S. Hole, Richard L. Darley, Michael McMahon, John D. Hayes, Paul Moss, Grant S. Stewart, A. Malcolm R. Taylor, Tatjana Stankovic   +20 more
doaj   +1 more source

Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia

, 2022
The ataxia-telangiectasia mutated (ATM) protein kinase is, as the name implies, mutated in the human genetic disorder ataxia-telangiectasia (A-T). This protein has its “finger in many pies”, being responsible for the phosphorylation of many ...
Abrey Jie Yeo, Magtouf Hnaidi Gatei, Coman, David John, David John Coman, Martin Francis Lavin, Yeo, Abrey Jie, Subramanian, Goutham Narayanan, Lavin, Martin Francis, Goutham Narayanan Subramanian, Gatei, Magtouf Hnaidi   +9 more
core   +1 more source

Ataxia-Telangiectasia

Oral Surgery, Oral Medicine, Oral Pathology, 1993
Veenhuis S, van Os N, Weemaes C, Kamsteeg EJ, Willemsen M.   +4 more
europepmc   +2 more sources

Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature

World Journal of Surgical Oncology, 2009
Background Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer.
Hammond Sue, Erdman Steven H, Abdessalam Shahab F, Otabor Iyore A, Besner Gail E   +4 more
doaj   +1 more source

Management of a pediatric patient with ataxia telangiectasia: Report of a rare case in which diagnostic radiographs are contraindicated

Journal of Family Medicine and Primary Care, 2020
Ataxia telangiectasia is a rare neurodegenerative autosomal recessive multisystem disorder which has been reported only once in the dental literature.
Mebin George Mathew
doaj   +1 more source

Disorders of Upper Limb Movements in Ataxia-Telangiectasia. [PDF]

PLoS ONE, 2013
Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia.
Aasef G Shaikh, David S Zee, Allen S Mandir, Howard M Lederman, Thomas O Crawford   +4 more
doaj   +1 more source