Results 1 to 10 of about 4,949 (187)

Repeat expansions in RFC1 gene in refractory chronic cough [PDF]

ERJ Open Research
Introduction Refractory chronic cough (RCC), persisting despite addressing contributory diagnoses, is likely underpinned by neurally mediated cough hypersensitivity.
Barnaby Hirons, Peter S.P. Cho, Katie Rhatigan, Joe Shaw, Riccardo Curro, Bianca Rugginini, Natalia Dominik, Richard D. Turner, Ewan Mackay, James H. Hull, Hisham Abubakar-Waziri, Harini Kesavan, Caroline J. Jolley, Robert D. Hadden, Andrea Cortese, Surinder S. Birring   +15 more
doaj   +3 more sources

Expanding the Clinical Spectrum of RFC1 Gene Mutations [PDF]

Journal of Movement Disorders, 2022
Biallelic intronic repeat expansion in the replication factor complex unit 1 (RFC1) gene has recently been described as a cause of late onset ataxia with degeneration of the cerebellum, sensory pathways and the vestibular apparatus.
Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog   +2 more
doaj   +3 more sources

RFC1 regulates the expansion of neural progenitors in the developing zebrafish cerebellum [PDF]

Nature Communications
DNA replication and repair are basic yet essential molecular processes for all cells. RFC1 encodes the largest subunit of the Replication Factor C, an essential clamp-loader for DNA replication and repair.
Fanny Nobilleau, Sébastien Audet, Alexandra da Silva Babinet, Sanaa Tork, Charlotte Zaouter, Meijiang Liao, Nicolas Pilon, Martine Tétreault, Shunmoogum A. Patten, Éric Samarut   +9 more
doaj   +2 more sources

Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease [PDF]

npj Parkinson's Disease, 2022
An intronic expansion (AAGGG)exp in the RFC1 gene has recently been shown to cause recessively inherited cerebellar ataxia, neuropathy, and vestibular areflexia syndrome and, furthermore, a few patients with ataxia and parkinsonism have been reported. We
Laura Kytövuori, Jussi Sipilä, Hiroshi Doi, Anri Hurme-Niiranen, Ari Siitonen, Eriko Koshimizu, Satoko Miyatake, Naomichi Matsumoto, Fumiaki Tanaka, Kari Majamaa   +9 more
doaj   +4 more sources

Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson’s disease [PDF]

npj Parkinson's Disease
Biallelic intronic pentanucleotide repeat expansions, mainly (AAGGG)exp and/or (ACAGG)exp in RFC1, are detected in cerebellar ataxia, neuropathy and vestibular areflexia syndrome, late-onset ataxia, and in a wide disease spectrum including Charcot-Marie ...
Peng Liu, Fan Zhang, Xinhui Chen, Xiaosheng Zheng, Miao Chen, Zhiru Lin, Shuqi Chen, Lebo Wang, Xinchen Wang, Nan Jin, Chenxin Ying, Fei Xie, Bo Wang, Sheng Wu, Zhidong Cen, Wei Luo   +15 more
doaj   +2 more sources

Non-coding repeat analyses in patients with Parkinson’s disease [PDF]

Frontiers in Neurology
IntroductionThe genetic etiology of Parkinson’s disease (PD) is complex; approximately 10% of patients with PD have various gene mutations that lead to familial forms of the disease.
Makito Hirano, Makoto Samukawa, Satoko Miyatake, Satoko Miyatake, Yuko Yamagishi, Chiharu Isono, Rino Yoshikawa, Kazumasa Saigoh, Atsushi Terayama, Yuji Higashimoto, Eriko Koshimizu, Takeshi Mizuguchi, Kanako Fujii, Yoshiyuki Mitsui, Naomichi Matsumoto, Naomichi Matsumoto, Naomichi Matsumoto, Yoshitaka Nagai   +17 more
doaj   +2 more sources

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohortResearch in context [PDF]

EBioMedicine
Summary: Background: While most sporadic adult-onset neurodegenerative diseases have only a minor monogenic component, given several recently identified late adult-onset ataxia genes, the genetic burden may be substantial in sporadic adult-onset ataxias.
Danique Beijer, David Mengel, Demet Önder, Carlo Wilke, Andreas Traschütz, Jennifer Faber, Dagmar Timmann, Sylvia Boesch, Stefan Vielhaber, Thomas Klopstock, Bart P. van de Warrenburg, Gabriella Silvestri, Christoph Kamm, Iselin Marie Wedding, Zofia Fleszar, Florian Harmuth, Claudia Dufke, Bernard Brais, Olaf Rieß, Ludger Schöls, Tobias Haack, Stephan Züchner, David Pellerin, Thomas Klockgether, Matthis Synofzik, Friedrich Erdlenbruch, Andreas Thieme, Judith van Gaalen, Christos Ganos, Jun-Suk Kang, Marcus Grobe-Einsler, Ilaria Giordano   +31 more
doaj   +2 more sources

Low Dose Methotrexate Has Divergent Effects on Cycling and Resting Human Hematopoietic Stem and Progenitor Cells [PDF]

Clinical and Translational Science
Low dose methotrexate (LD‐MTX) remains the gold standard in rheumatoid arthritis (RA) therapy. Multiple mechanisms on a variety of immune cells contribute to the anti‐inflammatory effects of LD‐MTX.
Maximilien Lora, H. A. Ménard, Anastasia Nijnik, David Langlais, Marie Hudson, Inés Colmegna   +5 more
doaj   +2 more sources

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan

Frontiers in Neurology, 2022
The recessive intronic pentanucleotide repeat AAGGG expansion of replication factor complex subunit 1 (RFC1) is associated with cerebellar ataxia, sensory neuropathy, and vestibular areflexia syndrome.
Masahiro Ando, Yujiro Higuchi, Junhui H. Yuan, Akiko Yoshimura, Shuntaro Higashi, Mika Takeuchi, Takahiro Hobara, Fumikazu Kojima, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Yuji Okamoto, Masahiro Nagai, Hiroshi Takashima   +18 more
doaj   +1 more source

Reduced folate carrier 1 is present in retinal microvessels and crucial for the inner blood retinal barrier integrity

Fluids and Barriers of the CNS, 2023
Background Reduced folate carrier 1 (RFC1; SLC19a1) is the main responsible transporter for the B9 family of vitamins named folates, which are essential for normal tissue growth and development.
Gokce Gurler, Nevin Belder, Mustafa Caglar Beker, Melike Sever-Bahcekapili, Gokhan Uruk, Ertugrul Kilic, Muge Yemisci   +6 more
doaj   +1 more source