Results 41 to 50 of about 35,381 (234)

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

, 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

Conjunctival Telangiectasia in a Patient with Ataxia Telangiectasia: A Case Report

, 2012
The purpose of this paper is to report a 7-year-old patient who developed bilateral conjunctival hyperemia while being under treatment of pneumonia in Pediatric Infectious Diseases Clinic at Sisli Etfal Training and Research Hospital.
Dilek Güven, Özge Pınar Akarsu, Cemile Üçgül Atılgan   +2 more
core   +1 more source

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
doaj   +1 more source

ATM, ATR and DNA-PKcs expressions correlate to adverse clinical outcomes in epithelial ovarian cancers

, 2014
Background: Ataxia-telangiectasia mutated (ATM), ataxia-telangiectasia mutated and rad3 related (ATR) and DNA-dependent protein kinase catalytic sub-unit (DNA-PKcs) play critical roles in DNA damage response (DDR) by linking DNA damage sensing to DDR ...
Moseley, P, Moseley, Paul, Kent, Christopher, Coveney, C, Abdel-Fatah, TMA, Johnson, K, Arora, Arvind, Chan, S, Arora, A, Chan, Stephen, Madhusudan, Srinivasan, Ball, G, Johnson, Kerstie, Perry, C, Madhusudan, S, Coveney, Clare, Ball, Graham, Abdel-Fatah, Tarek M.A., Kent, C, Perry, Christina   +19 more
core   +1 more source

Ataxia-Telangiectasia and variants [PDF]

, 2002
Deep insight on Ataxia-Telangiectasia and ...
JO Bay, S Perlman, Uhrhammer, N, Perlman, S, RA Gatti, N Uhrhammer, Bay, JO, Gatti, RA   +7 more
core   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

The natural history of ataxia-telangiectasia (A-T): A systematic review.

PLoS ONE, 2022
BackgroundAtaxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene.
Emily Petley, Alexander Yule, Shaun Alexander, Shalini Ojha, William P Whitehouse   +4 more
doaj   +1 more source

KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer

Molecular Oncology, EarlyView.
Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan, Veronika M Metzler, Simone de Brot, Corinne L Woodcock, Anna E Harris, Jennifer Lothion‐Roy, Emeli M Nilsson, Atara Ntekim, Michael S Toss, Jenny L Persson, Francesca Khani, Brian D Robinson, Lorraine J Gudas, Emad Rakha, David M Heery, Catrin S Rutland, Nigel P Mongan   +16 more
wiley   +1 more source

Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia

, 2021
There is evidence that ATM mutated in ataxia-telangiectasia (A-T) plays a key role in protecting against mitochondrial dysfunction, the mechanism for which remains unresolved.
Lavin, MF, Yeo, AJ, Chong, KL, Wolvetang, E, Zou, D, Kastan, MB, Gatei, M, Withey, S, Brown, AD, Parton, RG, Stewart, R, Coman, D   +11 more
core   +1 more source

Loss of IGF‐1R impairs DNA‐PKcs recruitment to chromatin leading to defective end‐joining

Molecular Oncology, EarlyView.
IGF‐1R promotes radioresistance by facilitating DNA‐PKcs recruitment to chromatin, enabling non‐homologous end‐joining (NHEJ) repair of double‐strand breaks. Inhibition or loss of IGF‐1R disrupts this recruitment to damage sites, driving compensatory reliance on microhomology‐mediated end‐joining (MMEJ) repair.
Matthew O. Ellis, Jack V. Mills, Wojciech Niedzwiedz, Valentine M. Macaulay   +3 more
wiley   +1 more source