Results 61 to 70 of about 53,382 (220)

Retroperitoneal extramedullary hematopoietic pseudotumor in ataxia-telangiectasia. [PDF]

, 2018
Ataxia-telangiectasia confers a significant increase in the development of several cancer types, most commonly leukemia and lymphoma. However, as the natural history for these patients is evolving and their lifespan is increasing, there is the potential ...
Bateni, Cyrus P, Canter, Robert J, Darrow, Morgan A, Evans, Christopher P, Judge, Sean James, Plescia, Trevor A   +5 more
core  

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

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
core   +1 more source

Tumor mutational burden as a determinant of metastatic dissemination patterns

Molecular Oncology, EarlyView.
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal, Andrea Moreno‐Manuel, Miguel Salvadó‐Pertierra, Cristina Santos‐Vivas, Rebeca Sanz‐Pamplona   +4 more
wiley   +1 more source

The MRN complex is transcriptionally regulated by MYCN during neural cell proliferation to control replication stress [PDF]

, 2015
The MRE11/RAD50/NBS1 (MRN) complex is a major sensor of DNA double strand breaks, whose role in controlling faithful DNA replication and preventing replication stress is also emerging. Inactivation of the MRN complex invariably leads to developmental and/
A Dupre, A Gulino, A Kuzyk, A Shibata, A Soriani, A Wey, A Wey, AM Duursma, AM Taylor, B Argenti, B Ricci, B Shiotani, BR Stanton, C Bruhn, C Heil, CJ Thiele, CL Marcelis, D Dominguez-Sola, D Fruci, DW Felsher, EA Rahal, F Sardina, G Giannini, G Giannini, H van Bokhoven, HE Bryant, I Screpanti, J Buis, J Charron, J Lafrance-Vanasse, J Wu, K Schlacher, K Trenz, KA Cole, KH Chrzanowska, KK To, L Di Marcotullio, LJ Valentijn, M Cognet, M Murga, M Petroni, M Petroni, M Sahún-Roncero, M Wilda, M Wojewodzka, O Chayka, P Khongkow, PE Neiman, PJ Hurlin, PO Frappart, PS Knoepfler, R Moser, R Thompson, R Waltes, RS Williams, RV Pusapati, S Albini, S Biton, S Ray, S Rohban, S Sawai, S Ying, SV Srinivasan, TG Oliver, TH Stracker, V Colicchia, V Veschi, V Veschi, W Lutz, YC Chiang, YL Lin   +70 more
core   +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

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

Growth in ataxia telangiectasia

Orphanet Journal of Rare Diseases, 2021
Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity groups are defined in A-T: classic (
Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Howard M. Lederman   +8 more
doaj   +1 more source

Overview of molecular signatures of senescence and associated resources: pros and cons

FEBS Open Bio, EarlyView.
Cells can enter a stress response state termed cellular senescence that is involved in various diseases and aging. Detecting these cells is challenging due to the lack of universal biomarkers. This review presents the current state of senescence identification, from biomarkers to molecular signatures, compares tools and approaches, and highlights ...
Orestis A. Ntintas, Sylvia Vagena, Pavlos Pantelis, Giorgos Theocharous, Russel Petty, Konstantinos Evangelou, Vassilis G. Gorgoulis   +6 more
wiley   +1 more source