Results 1 to 10 of about 348,762 (206)

Late‐onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation? [PDF]

open access: yesJIMD Reports
Methionine synthase reductase deficiency (cblE) is a rare autosomal recessive inborn error of cobalamin metabolism caused by pathogenic variants in the methionine synthase reductase gene (MTRR).
Alexandre Nguyen   +7 more
doaj   +2 more sources

Chlorquinaldol Alleviates Lung Fibrosis in Mice by Inhibiting Fibroblast Activation through Targeting Methionine Synthase Reductase [PDF]

open access: yesACS Central Science
Xiangyu Yang   +15 more
doaj   +2 more sources

Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children

open access: yesTzu Chi Medical Journal, 2022
Objectives: Folates are essential nutrients required for the synthesis of DNA/RNA in cell division and segregation. Folates are reduced and methylated in the liver with the help of enzymes such as methylenetetrahydrofolate reductase (MTHFR), MTR MTRR ...
Amandeep Kaur, Anupam Kaur
doaj   +1 more source

High-dose folic acid supplementation results in significant accumulation of unmetabolized homocysteine, leading to severe oxidative stress in Caenorhabditis elegans

open access: yesRedox Biology, 2020
Using Caenorhabditis elegans as a model animal, we evaluated the effects of chronical supplementation with high-dose folic acid on physiological events such as life cycle and egg-laying capacity and folate metabolism.
Kyohei Koseki   +4 more
doaj   +1 more source

Methionine synthase reductase A66G polymorphism and ischemic stroke in younger patients

open access: yesНеврология, нейропсихиатрия, психосоматика, 2021
In the past decade, stroke incidence in younger adults increased. Methionine synthase reductase (MTRR) A66G polymorphism is one of the risk factors for ischemic stroke (IS).
O. V. Tsyganenko   +2 more
doaj   +1 more source

Cystathionine β-synthase and methylenetetrahydrofolate reductase mutations in Mexican individuals with hyperhomocysteinemia

open access: yesSAGE Open Medicine, 2020
Background: Hyperhomocysteinemia, a thrombotic risk factor, may have several causes. Among the genetic causes of hyperhomocysteinemia, there are polymorphisms in the enzymes methylenetetrahydrofolate reductase (C677T) and cystathionine β-synthase (C699T,
Anahi Guadalupe Figueroa-Torres   +10 more
doaj   +1 more source

Association between folate metabolism polymorphisms and breast cancer: a case-control study

open access: yesGenetics and Molecular Biology, 2021
We investigated the association between methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthetase (MTR A2756G), and methionine synthase reductase (MTRR A66G) polymorphisms involved in folate pathway and breast cancer risk, and ...
Ana Paula D’Alarme Gimenez-Martins   +9 more
doaj   +1 more source

Distribution of MTHFR and MTRR polymorphisms in Han and Buyi women at Libo county of Guizhou province [PDF]

open access: yesJichu yixue yu linchuang, 2021
Objective To conduct molecular epidemiological investigations on Han and Buyi women at Libo county of Guizhou province aiming for the identification of genetic polymorphisms coding the key enzymes for folate metabolism MTHFR and MTRR.
QIN Yi-wang, MO Mei-xiang, ZHANG Long-jiong, LUO Yin-ya, WEI Liang-yin, HU Ji-fang, LU Yan-qiang
doaj  

DISTRIBUTION OF MTHFR C677T, A1298C POLYMORDHISMS, AND MTRR A66G POLYMORPHISMS IN HAN WOMEN IN JIA COUNTY, CHINA [PDF]

open access: yes精准医学杂志, 2023
Objective To analyze the distribution characteristics of the gene polymorphisms of key enzymes related to folate metabolism [5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR)] in women of reproductive age of the ...
LI Huicong, WU Hongguo, LU Yanqiang, WANG Yanchao, WANG Qiuju, HU Jifang, YANG Q
doaj   +1 more source

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