Results 91 to 100 of about 4,949 (187)

The DNA damage checkpoint pathway promotes extensive resection and nucleotide synthesis to facilitate homologous recombination repair and genome stability in fission yeast. [PDF]

, 2014
DNA double-strand breaks (DSBs) can cause chromosomal rearrangements and extensive loss of heterozygosity (LOH), hallmarks of cancer cells. Yet, how such events are normally suppressed is unclear.
Blaikley, EJ, Bähler, J, Deegan, RS, Hulme, L, Humphrey, TC, Hussey, S, Kasparek, TR, Marguerat, S, Nakagawa, T, Pai, CC, Sarkar, S, Tinline-Purvis, H, Walker, CA, Wee, BY   +13 more
core   +1 more source

Next‐Generation Genetic Testing in the Diagnostics of Neurological Disease in Southwest Finland in 2010–2021: A Register‐Based Study

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Neurological disorders are heterogeneous and sometimes challenging to diagnose. Next‐generation sequencing (NGS) panels and exome sequencing methods are increasingly advocated as first‐tier genetic investigations. In this retrospective, single‐centre, register‐based study, we investigated the use of NGS‐based investigations in the diagnostics of adult ...
Saga Loukiainen, Maria K. Haanpää, Mika H. Martikainen, Dominic B. Fee   +3 more
wiley   +1 more source

Identification of expression profiles and prognostic value of RFCs in colorectal cancer

Scientific Reports
Colorectal cancer (CRC) ranks among the most prevalent cancers globally, with its incidence closely tied to DNA damage. The Replication Factor C (RFC) complexes comprises five protein subunits: RFC1, RFC2, RFC3, RFC4, and RFC5.
Md Misbah, Manoj Kumar, Abul Kalam Najmi, Mymoona Akhtar   +3 more
doaj   +1 more source

ATRX: From Chromatin Remodeling to Disease

genesis, Volume 63, Issue 6, December 2025.
ABSTRACT Chromatin remodeling proteins are evolutionarily conserved factors involved in a wide range of biological processes. In this review, we describe ATRX, a chromatin remodeling protein belonging to the SWI/SNF2 family. Its association with different protein complexes, and its roles in embryonic development, sexual differentiation, as well as ...
Mauro Magaña‐Acosta, Viviana Valadez‐Graham   +1 more
wiley   +1 more source

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

Frontiers in Genetics, 2019
A biallelic pentanucleotide expansion in the RFC1 gene has been reported to be a common cause of late-onset ataxia. In the general population, four different repeat conformations are observed: wild type sequence AAAAG (11 repeats) and longer expansions ...
Fulya Akçimen, Fulya Akçimen, Jay P. Ross, Jay P. Ross, Cynthia V. Bourassa, Calwing Liao, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie-Josée Dicaire, Orlando G. Barsottini, Bernard Brais, Bernard Brais, Bernard Brais, José Luiz Pedroso, Patrick A. Dion, Patrick A. Dion, Guy A. Rouleau, Guy A. Rouleau, Guy A. Rouleau   +19 more
doaj   +1 more source

Fission yeast strains with circular chromosomes require the 9-1-1 checkpoint complex for the viability in response to the anti-cancer drug 5-fluorodeoxyuridine [PDF]

, 2017
Thymidine kinase converts 5-fluorodeoxyuridine to 5-fluorodeoxyuridine monophosphate, which causes disruption of deoxynucleotide triphosphate ratios.
Murray, Johanne
core   +1 more source

Estudios fármaco-genéticos de pacientes con infección por VIH-1 tratados con regimenes antirretrovirales basados en estavudina : asociación de los polimorfismos de la timidilato sintasa con los niveles intracelulares de estavudina trifosfato [PDF]

, 2012
L'activitat antiretroviral i la toxicitat de l'estavudina (d4T) depèn del seu metabòlit trifosfat (d4T-TP).Es varen determinar els nivells intracel·lulars de d4T-TP y els polimorfismes dels gens dels enzims la via del folat entre altres la timidilat ...
Cabeza Brasa, Mª del Carmen, Universitat Autònoma de Barcelona. Departament de Medicina, Universitat Autònoma de Barcelona. Facultat de Medicina   +2 more
core  

A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: There is evidence that polymorphisms of genes involved in folate metabolism may be associated with higher risk that mothers may bear a Down's syndrome (DS) child.
Joice Matos Biselli, Daniela Brumati, Vivian Fernanda Frigeri, Bruna Lancia Zampieri, Eny Maria Goloni-Bertollo, Érika Cristina Pavarino-Bertelli   +5 more
doaj   +1 more source

IPCC reasons for concern regarding climate change risks [PDF]

, 2017
The reasons for concern framework communicates scientific understanding about risks in relation to varying levels of climate change. The framework, now a cornerstone of the IPCC assessments, aggregates global risks into five categories as a function of ...
A Challinor, A Fischlin, A Fouillet, A Lavell, AA Hoffmann, AC Baker, AC Wittmann, AE Strong, B Jones, B Kirtman, B Sandel, C Rosenzweig, CS Turney, D Pollard, DB Lobell, DB Segan, DP van Vuuren, E Post, E Rignot, EM Fischer, ES Cassidy, G Yohe, GC Nelson, GJ Jia, H Visser, H-O Pörtner, I Niang, I-C Chen, IH Myers-Smith, J Birkmann, J Birkmann, J Hinkel, J Knox, J Parfitt, J Schewe, J Schmidhuber, J Settele, J Veron, J-P Gatusso, JA Church, JB Smith, JB Smith, JP Gattuso, JR Malcolm, JR Porter, K Smith, KD Rode, KJ Feeley, L Bopp, M Collins, M Dell, M Garschagen, M Kummu, M Oppenheimer, M Oppenheimer, MC Urban, ME Visser, MN Gooseff, MT Burrows, MT Burrows, N Bednaršek, N Christidis, N Myers, N Ockendon, NL Bindoff, O Hoegh-Guldberg, O Renn, O-D Cardona, P Peduzzi, P Tschakert, PK Thornton, PP Wong, R Mendelsohn, R Warren, R Warren, R Winkelmann, RE Kopp, RL Revesz, RS Tol, S Hallegatte, S Schneider, SL Cornford, SL Cutter, SN Gosling, SR Loarie, SZ Dobrowski, T Hasegawa, T Hasegawa, T Welle, TM Lenton, TR Karl, V Masson-Delmotte, W Cramer, W Dong, WB Foden   +94 more
core   +1 more source

The Adaptive Significance of Natural Genetic Variation in the DNA Damage Response of Drosophila melanogaster. [PDF]

, 2016
Despite decades of work, our understanding of the distribution of fitness effects of segregating genetic variants in natural populations remains largely incomplete. One form of selection that can maintain genetic variation is spatially varying selection,
Begun, David J, Cridland, Julie M, Svetec, Nicolas, Zhao, Li   +3 more
core   +4 more sources