Results 31 to 40 of about 30,325 (199)

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
doaj   +1 more source

Stem cell models in ataxia-telangiectasia

Neural Regeneration Research
Ataxia-telangiectasia is a rare neurodegenerative disease with a complex phenotype, which has recently been associated with alterations in metabolism, inadequate responses to oxidative stress and inflammation, as well as increased cardiovascular and ...
Maria Talmon, Giulia Lecchi, Luigia G. Fresu   +2 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

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

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

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

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

FEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill, Hassan Yousef Othman AlMuallim, Elouisa Maddock, Carl Hobbs, Earl Clarke, Maria B. Goncalves, Jonathan P. T. Corcoran   +6 more
wiley   +1 more source

A rare case of ataxia telangiectasia with intracranial tumor

CHRISMED Journal of Health and Research, 2014
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder results in neurodegeneration, variable immunological abnormality that leads to recurrent sinopulmonary infection, febrile episodes, progressive cerebellar ataxia, ocular, and ...
Gangadhar M Chatterjee, Rittu S Chandel, Pallavi J Kamble   +2 more
doaj   +1 more source

ATZ‐1 promotes DNA replication efficiency to maintain normal meiotic function

FEBS Open Bio, EarlyView.
Absence of ATZ‐1 interferes with meiotic DNA replication and cell cycle function via CHK‐1. This causes downstream defects associated with DNA damage and genomic integrity. Taken together, this study suggests that ATZ‐1 influences DNA replication efficiency and cell cycle function to maintain normal meiotic function.
Taylin E. Gourley, Luke W. Molesworth, Nethma H. Waduge, Fahimeh Eskandari, Peter R. Boag, Gregory M. Davis   +5 more
wiley   +1 more source