Characterization of a Rare Nonpathogenic Methylenetetrahydrofolatereductase (MTHFR) Gene Mutation p.Lys215del in a Southern Italian family
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23132
Abstract: To the Editor: We read with interest the article by Froese et al. [2016] reporting an exhaustively updated review on methylenetetrahydrofolatereductase (MTHFR, MIM# 607093) gene mutations. Among the 109 mutations from 192 patients described as… read more here.
Keywords: characterization rare; methylenetetrahydrofolatereductase mthfr; gene; mutation ... See more keywords
Combined effect of polymorphisms of MTHFR and MTR and arsenic methylation capacity on developmental delay in preschool children in Taiwan
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DOI: 10.1007/s00204-020-02745-y
Abstract: Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MTR) are related to cognitive dysfunction and mental disability. These genes, along with folate and vitamin B12 levels, are regulators of one-carbon metabolism, which synthesizes S-adenosylmethionine (SAM)… read more here.
Keywords: developmental delay; arsenic methylation; methylation capacity; delay ... See more keywords
Genetic polymorphism of MTHFR C677T with preterm birth and low birth weight susceptibility: a meta-analysis
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DOI: 10.1007/s00404-017-4322-z
Abstract: PurposeThis study aimed at clarifying the association of maternal and neonatal methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with preterm birth (PTB) and low birth weight (LBW) susceptibility, respectively.Materials and methodsA systematic search of Embase, Medline, China… read more here.
Keywords: ptb; mthfr c677t; birth; polymorphism ... See more keywords
Earlier onset of peripheral arterial thrombosis in homozygous MTHFR C677T carriers than in other MTHFR genotypes: a cohort study
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DOI: 10.1007/s10238-022-00819-y
Abstract: To investigate whether age at first presentation of pure peripheral arterial thrombosis (PAT) in lower and upper limbs and in the splanchnic circulation occurs earlier in carriers of the methylenetetrahydrofolate reductase (MTHFR) T677T genotype compared… read more here.
Keywords: pat; age; arterial thrombosis; mthfr ... See more keywords
Association between the MTHFR-C677T isoform and structure of sperm DNA
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DOI: 10.1007/s10815-017-1015-2
Abstract: PurposeThe aim of this study is to evaluate whether the MTHFR contribution to male decreased fertility can be attributable to anomalies in sperm nucleus DNA structure in relation to defective methylation.MethodsThe presence of MTHFR C677T,… read more here.
Keywords: structure; sperm dna; mthfr c677t; mthfr ... See more keywords
MTHFR (C677T, A1298C), FV Leiden polymorphisms, and the prothrombin G20210A mutation in arterial ischemic stroke among young tunisian adults.
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DOI: 10.1007/s11011-020-00663-7
Abstract: Arterial ischemic stroke (AIS) in young adults is less common in older adults, but the underlying pathogenesis and risk factors are more multi-faceted. The role of inherited thrombophilia such as 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene… read more here.
Keywords: risk; ischemic stroke; prothrombin g20210a; ais ... See more keywords
Shifting landscapes of human MTHFR missense-variant effects
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DOI: 10.1016/j.ajhg.2021.05.009
Abstract: Summary Most rare clinical missense variants cannot currently be classified as pathogenic or benign. Deficiency in human 5,10-methylenetetrahydrofolate reductase (MTHFR), the most common inherited disorder of folate metabolism, is caused primarily by rare missense variants.… read more here.
Keywords: mthfr variant; variant effects; missense; shifting landscapes ... See more keywords
The presence of a polymorphism in the maternal MTHFR gene does not correlate with the incidence of embryonic aneuploidy
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DOI: 10.1016/j.fertnstert.2018.07.429
Abstract: Objective: Methylenetetrahydrofolate reductase (MTHFR) plays an important role in catalyzing the conversion of 5, 10 methylenetetrahydrofolate into 5-methylenetetrahydrofolate, the predominant circulating form of folate in humans. Variations in the sequence of MTHFR gene have been… read more here.
Keywords: aneuploidy; presence polymorphism; mthfr gene; mthfr ... See more keywords
Genetic factors associated with the predisposition to late onset Alzheimer's disease.
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DOI: 10.1016/j.gene.2019.05.030
Abstract: BACKGROUND Alzheimer's disease is a progressive, irreversible neurodegenerative disorder characterized by loss of memory and cognitive skills. More than 90% of cases are sporadic and have later age of onset. Many studies have shown a… read more here.
Keywords: alzheimer disease; age; predisposition; mthfr ... See more keywords
Thrombose veineuse cérébrale et mutation du gène du méthylène tétrahydrofolate réductase
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DOI: 10.1016/j.neurol.2019.01.187
Abstract: Introduction La thrombose veineuse cerebrale (TVC) est une maladie rare, mais gravissime. L’enquete etiologique de la TVC est une etape fondamentale de la demarche diagnostique. La presence de facteurs de risque oriente le diagnostic et… read more here.
Keywords: gene; mthfr; tvc; thrombose veineuse ... See more keywords
Serum cholesterol, MTHFR methylation, and symptoms of depression in children.
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DOI: 10.1037/dev0000831
Abstract: Depression is associated with dietary factors and epigenetics. Serum cholesterol, which is prone to dietary influences, has been linked to symptoms of depression. This relationship may be (in part) due to altered epigenetic regulation of… read more here.
Keywords: cholesterol mthfr; symptoms depression; mthfr; depression ... See more keywords