Results 51 to 60 of about 53,969 (208)

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
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

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

Inhibiting stearoyl‐CoA desaturase suppresses bone metastatic prostate cancer by modulating cellular stress, mTOR signaling, and DNA damage response

FEBS Letters, EarlyView.
Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson, Mackenzie K Herroon, Shane Mecca, Laimar C Garmo, Jacob Lindquist, Shrila Rajendran, Steve M. Patrick, Izabela Podgorski   +7 more
wiley   +1 more source

Cellular Radiosensitivity: How much better do we understand it? [PDF]

, 2009
Purpose: Ionizing radiation exposure gives rise to a variety of lesions in DNA that result in genetic instability and potentially tumorigenesis or cell death.
Agrawal A, Ahel I, Ahnesorg P, Ali A, Anderson RM, Awa AA, Azzam E.I., Bailey SM, Bakkenist CJ, Beamish H, Bedford JS, Bedford JS, Bender MA, Berkovich E, Biedermann KA, Blunt T, Booth C, Bosma GC, Breslin C, Brown GL, Brown JM, Buck D, Carney JP, Cerosaletti K, Cerosaletti K, Chan DW, Chan DW, Chapman JD, Chen P.C., Clements PM, Cornforth MN, Cornforth MN, Cornforth MN, Curtis SB, Davis ME, de Jager M, Deans B, Dianor II, Ding Q, Dizdaroglu M, Doil C, El-Khamisy SF, El-Khamisy SF, Emmerson PT, Falck J, Falck J, Foray N, Game JC, Gao Y, Gatti RA, Georgakilas AG, Germain M, Godthelp BC, Goffman TE, Goldman M, Goldstein L, Goodarzi AA, Goodarzi AA, Goodhead DT, Grawunder U, Gueven N, Gueven N, Gueven N, Hirano M, Ho KS, Ho KY, Holliday R, Hopfner KP, Houldsworth J, Huen MS, Iliakis G, Iliakis G, Iliakis G, Jackson SP, Jazayeri A, Jeggo PA, Jeggo PA, Jeggo PA, Jeggo PA, Joiner MC, Joiner MC, Kankura T, Kastan MB, Kato TA, Kemp LM, Kemp LM, Khanna KK, Kitagawa R, Kolas NK, Kozlov SV, Krueger SA, Kurz EU, Lavin MF, Lavin MF, Lehmann AR, Li Z, Lindahl T, Lisker R, Little JB, Liu N, Liu Y, Lobrich M, Lockart RZ, Loken MK, Macklis RM, Mailand N, Marples B, Marples B, Martin F. Lavin, Maser RS, Miller RW, Mirzoeva OK, Morgan WF, Morgan WF, Moshous D, Mothersill C, Moynahan ME, Muhlmann-Diaz MC, Muller B, Nakamura J, Neel JV, Nelms BE, Nicolas N, Nikjoo H, O'Driscoll M, O'Driscoll M, Olive PL, Olive PL, Otake M, Ouyang H, Painter RB, Pandita TK, Parsons PA, Paull TT, Paull TT, Paull TT, Penny Jeggo, Peters LJ, Potten CS, Pourquier P, Pourquier P, Purdy JA, Radford IR, Radford JR, Ratnayake RK, Resnick MA, Riballo E, Robins HI, Rothkamm K, Rothkamm K, Rothkamm K, Royal HD, Samson L, Savitsky K, Sax K, Sedgwick RP, Shinohara A, Shreeram S, Singh NP, Spivak G, Stamato TD, Stamato TD, Stewart GS, Stewart GS, Stewart GS, Strzelczyk JJ, Sun Y, Sun Y., Sutherland JC, Taccioli GE, Takashima H, Tapio S, Taylor AM, Taylor AMR, Teoule R, Terasima T, Thacker J, Thacker J, Thacker J, Thierry-Chef I, Thompson LH, Thompson LH, Uziel T, van den Bosch M, van der Schans GP, Varon R, von Sonntag C, Walker JR, Wall BF, Wallach DF, Waltes R, Ward IM, Ward JF, Ward JF, Weemaes CMR, Whitmore GF, Willetts NS, Williams RS, Wolff S, Wolff S, Wolff S, Wolff S, Woo SY, Wood RD, Wykes SM, Wyman C, Yoshimaru H, Yoshimoto Y, You Z, Zdzienicka MZ, Zdzienicka MZ, Zdzienicka MZ, Zhao W, Zhou T, Ziv Y   +214 more
core   +1 more source

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

Molecular Oncology, EarlyView.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici, Soheil Akbari, Ceyda Caliskan, Canan Celiker, Ozden Oz, Leman Binokay, Gökhan Karakulah, Serif Senturk, Esra Erdal   +8 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

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

An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: A probable ataxia telangiectasia variant [PDF]

, 1995
We report a family of 4 siblings from a non-consanguineous marriage, presenting with an early onset recessive cerebellar ataxia and progressive distal limb wasting. Ocular or other telangiectasias were absent.
Graaf, A.S. (A.) de, Jong, G. (G.) de, Kleijer, W.J. (Wim)   +2 more
core   +1 more source