The RFC1 80G>A, among Common One-Carbon Polymorphisms, Relates to Survival Rate According to DNA Global Methylation in Primary Liver Cancers. [PDF]
PLoS ONE, 2016 Polymorphisms within one-carbon metabolism genes have been largely studied in relation to cancer risk for the function of this pathway in nucleotide synthesis and DNA methylation.
Sara Moruzzi +13 more
doaj +1 more source
Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells [PDF]
, 2010 Nucleotide excision repair (NER) is the most versatile DNA repair system that deals with the major UV photoproducts in DNA, as well as many other DNA adducts.
Cloney, Ross +13 more
core +3 more sources
Allgemeine und funktionelle Untersuchungen zur großen Untereinheit des humanen Replikationsfaktors C (RFC1), sowie initiale Untersuchungen zur Regulation der Expression von RFC1 durch das BCR-ABLp210-Onkogen [PDF]
, 2005 In der vorliegenden Arbeit wurden allgemeine und funktionelle Untersuchungen zur großen Untereinheit des humanen Replikationsfaktors C (RFC1) durchgeführt.
Breitenbücher, Frank +1 more
core +1 more source
Is PCNA unloading the central function of the Elg1/ATAD5 replication factor C-like complex? [PDF]
, 2013 This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited.Peer ...
Donaldson, Anne D +2 more
core +1 more source
Molecular epidemiology of hereditary ataxia in Finland
BMC Neurology, 2021 Background The genetics of cerebellar ataxia is complex. Hundreds of causative genes have been identified, but only a few cause more than single cases. The spectrum of ataxia-causing genes differs considerably between populations.
Joonas Lipponen +11 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2022 The neural plate border (NPB) of vertebrate embryos segregates from the neural and epidermal regions, and it is comprised of an intermingled group of multipotent progenitor cells. Folate is the precursor of S-adenosylmethionine, the main methyl donor for
Nagif Alata Jimenez +1 more
doaj +1 more source
Revue NeurologiqueBiallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the RFC1 gene have been frequently updated.
V. Delforge +7 more
openaire +4 more sources
Impact of decitabine on immunohistochemistry expression of the putative tumor suppressor genes FHIT, WWOX, FUS1 and PTEN in clinical tumor samples. [PDF]
, 2014 BackgroundSince tumor suppressor gene function may be lost through hypermethylation, we assessed whether the demethylating agent decitabine could increase tumor suppressor gene expression clinically.
Aldaz, Marcelo +8 more
core +3 more sources
The Characteristic Eye Movement Disorder of RFC1‐Linked CANVAS [PDF]
Movement Disorders Clinical Practice, 2020 View Supplementary Video 1View Supplementary Video 2View Supplementary Video ...
Terryn, Joke +3 more
openaire +3 more sources
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions
Biomolecules, 2023 A recessive Short Tandem Repeat expansion in RFC1 has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy.
Stefano Facchini +19 more
doaj +1 more source