An evaluation of DNA-damage response and cell-cycle pathways for breast cancer classification [PDF]
, 2014 Accurate subtyping or classification of breast cancer is important for ensuring proper treatment of patients and also for understanding the molecular mechanisms driving this disease.
Fard, Atefeh Taherian +2 more
core +5 more sources
Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS
Brain and Behavior, 2022 Background To investigate the association between disease duration and the severity of bilateral vestibulopathy in individuals with complete or incomplete CANVAS (Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome) and biallelic RFC1 ...
Max Borsche +5 more
doaj +1 more source
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 +7 more
doaj +1 more source
The Reduced Folate Carrier (SLC19A1) c.80G>A Polymorphism is associated with red cell folate concentrations among women [PDF]
, 2009 Low folate status may be a consequence of suboptimal intake, transport or cellular utilization of folate and, together with elevated homocysteine, is a recognized risk factor/marker for several human pathologies. As folate transport across cell membranes
Boreham, C.A. +11 more
core +1 more source
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 +7 more
doaj +1 more source
The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects [PDF]
, 2015 Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions of chromosome 21, favoring its abnormal segregation during maternal meiosis.
Fabio Coppedè
core +2 more sources
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 +9 more
openaire +4 more sources
Peripheral blood derived gene panels predict response to infliximab in rheumatoid arthritis and Crohn’s disease [PDF]
, 2013 Background: Biological therapies have been introduced for the treatment of chronic inflammatory diseases including rheumatoid arthritis (RA) and Crohn's disease (CD). The efficacy of biologics differs from patient to patient. Moreover these therapies are
Holló, Zsolt +10 more
core +4 more sources
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 +7 more
doaj +1 more source
Challenges in implementing individualized medicine illustrated by antimetabolite therapy of childhood acute lymphoblastic leukemia [PDF]
, 2011 Predicting the response to medical therapy and subsequently individualizing the treatment to increase efficacy or reduce toxicity has been a longstanding clinical goal.
Jacob Nersting +2 more
core +2 more sources