Results 1 to 10 of about 2,444 (111)

The Study of Association Between Reduced Folate Carrier 1 (RFC1) Polymorphism and Non-Syndromic Cleft Lip/Palate in Iranian Population [PDF]

BioImpacts, 2017
Introduction: Cleft lip/palate is one of the most common congenital defects and is supposed to have multifactorial etiology, including a complex interaction between genetics and environment.
Asghar Ebadifar, Koorosh Kamali, Hamid Reza Khorram Khorshid   +2 more
exaly   +2 more sources

Reduced folate carrier 1 G80A polymorphism is correlated with elevated methotrexate-induced toxicity in pediatric acute lymphoblastic leukemia patients: a systemic meta-analysis [PDF]

World Journal of Surgical Oncology
Background Reduced folate carrier 1 (RFC1) is an important solute carrier transporter crucial for the uptake and transport of methotrexate (MTX). This meta-analysis aimed to systemically analyze the relationship between the RFC1 G80A polymorphism and MTX-
Yihuan Yue, Li Yao, Fuchun Wang, Dongchuan Lai   +3 more
doaj   +2 more sources

Rapid on–off effects of methotrexate on lymphocytes may facilitate recovery of suppressed vaccine immunogenicity after its short-term methotrexate discontinuation in rheumatoid arthritis [PDF]

Frontiers in Immunology
ObjectiveShort-term methotrexate (MTX) discontinuation restores vaccine responses in rheumatoid arthritis (RA). We investigated how the timing of MTX exposure relative to lymphocyte activation influences cellular pharmacokinetics and vaccine ...
Heejin Jeong, Seojin Yang, Jun Won Park, Kevin Winthrop, Eun Bong Lee, Eun Bong Lee, Jin Kyun Park   +6 more
doaj   +2 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

Uncovering Neuropathic Pain in CANVAS: Lessons from a Case-Based Literature Review [PDF]

Pain and Therapy
Introduction Cerebellar ataxia with neuronopathy and vestibular areflexia syndrome (CANVAS) is a rare, late-onset neurodegenerative disorder caused by biallelic intronic AAGGG repeat expansions in the RFC1 gene.
Panayiota Neophytou, Stefania Kalampokini, Constantinos Avraam, Andreas Anagiotos, Constantinos Deltas, Christiana Ioannou, Christiana Polydorou, Georgios M. Hadjigeorgiou, Panagiotis Zis   +8 more
doaj   +2 more sources

Vestibular Function in CANVAS Patients: Qualitative and Quantitative vHIT Analysis [PDF]

Audiology Research
Background/Objectives: Vestibular dysfunction is an important feature of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) associated with biallelic RFC1 expansions.
Pasqualina Maria Picciotti, Rolando Rolesi, Gabriella Silvestri, Salvatore Rossi, Giorgia Rossi, Jacopo Galli   +5 more
doaj   +2 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   +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

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

CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy

Scientific Reports, 2023
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) has recently been attributed to biallelic repeat expansions in RFC1. More recently, the disease entity has expanded to atypical phenotypes, including chronic neuropathy without ...
Makito Hirano, Motoi Kuwahara, Yuko Yamagishi, Makoto Samukawa, Kanako Fujii, Shoko Yamashita, Masahiro Ando, Nobuyuki Oka, Mamoru Nagano, Taro Matsui, Toshihide Takeuchi, Kazumasa Saigoh, Susumu Kusunoki, Hiroshi Takashima, Yoshitaka Nagai   +14 more
doaj   +1 more source