Results 21 to 30 of about 77,321 (235)

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

Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia [PDF]

, 2020
BackgroundAtaxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be ...
Prasad, Manish, Cooper, Andrew D, Chow, Gabriel, Dineen, Rob A, Whitehouse, William P, Hack, Lorna, Cooper, Andrew D., Dineen, Rob A., Raschke, Felix, Pszczolkowski, Stefan, Auer, Dorothee P, McGlashan, Hannah L., Whitehouse, William P., Auer, Dorothee P., McGlashan, Hannah L   +14 more
core   +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

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts [PDF]

, 2023
Background/Objectives: Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A‐T. We aimed to
Lobna Mansour, Elizabeth McDermott, Claudio Pignata, Dandapani, Madhumita, Gilbert, Donald L, Tischkowitz, Marc, Dückers, Gregor, Coman, David J, Gregor Dückers, Perlman, Susan L, Wainwright, Claire, Gilbert, Donald L., Suri, Mohnish, Dineen, Robert A, De Dios Perez, Blanca, Pignata, Claudio, Whitehouse, William, Dineen, Robert, Pauni, Micaela, Bhatt, Jayesh, Sophie Wilne, Panek, Rafal, McDermott, Elizabeth, Sumit Jagani, Oscar Porras, Bhatt, Jayesh M, Jayesh M. Bhatt, Susan L. Perlman, Pere Soler‐Palacin, Gilbert, Donald, Nick Russo, Sam, Micaela Pauni, Porto, Mariela Betina, Mahendra Bhatt, Jayesh, Donald L. Gilbert, Glazebrooke, Cristine, Wilne, Sophie, Katherine Schon, Masatoshi Takagi, Koenig, Mary Kay, Marc Tischkowitz, Coman, David J., Dineen, Robert A., Mary Kay Koenig, Perlman, Susan L., Blanca De Dios Perez, Emilia Cirillo, Whitehouse, William P., Renata Neves, Robert A. Dineen, Sam Nick Russo, Soler-Palacin, Pere, Claire Wainwright, Soler-Palacine, Pere, Madhumita Dandapani, DeDiosPerez, Blanca, McDermott, Elisabeth, Russo, Sam Nick, Caputi, Caterina, Kay Koenig, Mary, Dineen Robert A, Cristine Glazebrook, Glazebrook, Cristine, Rafal Panek, Neves, Renata, Caterina Caputi, Perlman, Susan, Cirillo, Emilia, Whitehouse, William P, Mohnish Suri, Coman, David, Mansour, Lobna, Mariela Betina Porto, David J. Coman, Schon, Katherine, Jagani, Sumit, Bhatt, Jayesh M., William P. Whitehouse, Takagi, Masatoshi, Porras, Oscar, Betina Porto, Mariela   +80 more
core   +1 more source

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

“A DNA Damage Response (DDR) –independent Role for the Ataxia-Telangiectasia Mutated (ATM) Gene Product" [PDF]

, 2010
Ataxia-Telangiectasia (A-T) is a recessive hereditary syndrome characterized by cerebellar degeneration, telangiectasia, precocious aging, immunodeficiency, cancer predisposition and insulin-resistant diabetes.
Palazzo, Luca
core   +1 more source