Results 41 to 50 of about 3,165 (187)

Nerve ultrasound abnormality in <i>RFC1</i> positive isolated sensory neuropathy is milder than in the full <i>RFC1</i> canvas phenotype. [PDF]

Clin Neurophysiol Pract
Pelosi L, Garvey A, Kao J, Roxburgh R.
europepmc   +3 more sources

Microarray analysis of E9.5 reduced folate carrier (RFC1; Slc19a1) knockout embryos reveals altered expression of genes in the cubilin-megalin multiligand endocytic receptor complex

BMC Genomics, 2008
Background The reduced folate carrier (RFC1) is an integral membrane protein and facilitative anion exchanger that mediates delivery of 5-methyltetrahydrofolate into mammalian cells.
Bauer Linda K, Eudy James D, van Waes Michael, Wilberding Justin, Smith Lynette M, Maddox Joyce R, Gelineau-van Waes Janee, Finnell Richard H   +7 more
doaj   +1 more source

Evaluation of the influence of polymorphisms of the transporter genes (RFC1, MDR1) and GGH on the efficacy of methotrexate in rheumatoid arthritis

Современная ревматология, 2023
The efficacy of methotrexate (MT) in patients with rheumatoid arthritis (RA) may be determined by genetic factors.Objective: to evaluate the isolated and combined effects of single nucleotide polymorphisms (SNPs) of membrane transporter proteins (RFC1 ...
I. V. Devald, E. A. Hodus, D. Yu. Nokhrin, E. B. Khromova, G. L. Ignatova, D. S. Stashkevich, A. M. Lila, A. L. Burmistrova   +7 more
doaj   +1 more source

RFC1 -related ataxia is a mimic of early multiple system atrophy [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2021
Multiple systems atrophy (MSA) is a rare neurodegenerative disorder combining varying presentations of cerebellar impairment, parkinsonism and autonomic dysfunction that relies on pathological examination for a definitive diagnosis.1 2 The second consensus diagnostic criteria (SCDC) subdivide patients into two groups based on a predominance of either ...
Roisin Sullivan, Wai Yan Yau, Viorica Chelban, Salvatore Rossi, Natalia Dominik, Emer O'Connor, John Hardy, Nicholas Wood, Andrea Cortese, Henry Houlden   +9 more
openaire   +4 more sources

The DNA replication factor RFC1 is required for interference-sensitive meiotic crossovers in Arabidopsis thaliana.

PLoS Genetics, 2012
During meiotic recombination, induced double-strand breaks (DSBs) are processed into crossovers (COs) and non-COs (NCO); the former are required for proper chromosome segregation and fertility.
Yingxiang Wang, Zhihao Cheng, Jiyue Huang, Qian Shi, Yue Hong, Gregory P Copenhaver, Zhizhong Gong, Hong Ma   +7 more
doaj   +1 more source

Longitudinal Evaluation of Ataxia and Brain Structural Changes in RFC1-Related Disorder [PDF]

Movement Disorders Clinical Practice
Thiago Rezende, José Luiz Pedroso, Marcondes C França   +2 more
exaly   +2 more sources

Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible

Biomedicines, 2022
Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging.
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Fumikazu Kojima, Yutaka Noguchi, Takahiro Hobara, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima   +17 more
doaj   +1 more source

Rôle du gène RFC1 dans le développement du cervelet [PDF]

Le syndrome CANVAS (Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome) est une ataxie cérébelleuse rare qui apparaît à l'âge adulte, et se caractérise par des déséquilibres et une neuropathie sensorielle.
Nobilleau, Fanny
core   +1 more source

Characterization of subcellular localization of eukaryotic clamp loader/unloader and its regulatory mechanism

Scientific Reports, 2021
Proliferating cell nuclear antigen (PCNA) plays a critical role as a processivity clamp for eukaryotic DNA polymerases and a binding platform for many DNA replication and repair proteins.
Su Hyung Park, Seong-jung Kim, Kyungjae Myung, Kyoo-young Lee   +3 more
doaj   +1 more source

Cryo-EM structures reveal that RFC recognizes both the 3′- and 5′-DNA ends to load PCNA onto gaps for DNA repair

eLife, 2022
RFC uses ATP to assemble PCNA onto primed sites for replicative DNA polymerases δ and ε. The RFC pentamer forms a central chamber that binds 3′ ss/ds DNA junctions to load PCNA onto DNA during replication.
Fengwei Zheng, Roxana Georgescu, Nina Y Yao, Huilin Li, Michael E O'Donnell   +4 more
doaj   +1 more source