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1,535 results

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Page 1
Shifting landscapes of human MTHFR missense-variant effects.
Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP. Weile J, et al. Am J Hum Genet. 2021 Jul 1;108(7):1283-1300. doi: 10.1016/j.ajhg.2021.05.009. Am J Hum Genet. 2021. PMID: 34214447 Free PMC article.
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 va …
Most rare clinical missense variants cannot currently be classified as pathogenic or benign. Deficiency in human 5,10-methylenetetrahydro …
Homocysteine and MTHFR Mutations.
Moll S, Varga EA. Moll S, et al. Circulation. 2015 Jul 7;132(1):e6-9. doi: 10.1161/CIRCULATIONAHA.114.013311. Circulation. 2015. PMID: 26149435 Review. No abstract available.
MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.
Levin BL, Varga E. Levin BL, et al. J Genet Couns. 2016 Oct;25(5):901-11. doi: 10.1007/s10897-016-9956-7. Epub 2016 Apr 30. J Genet Couns. 2016. PMID: 27130656 Review.
The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byproducts of which are involved in the remethylation of homocysteine to methionine. Methionine is a precursor for a major DNA methyl donor and is …
The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byprod …
MTHFR-C677T Gene Polymorphism and Susceptibility to Acute Lymphoblastic Leukemia in Children: A Meta-Analysis.
Li Y, Pei YX, Wang LN, Liang C, Tang YL, Zhang XL, Huang LB, Luo XQ, Ke ZY. Li Y, et al. Crit Rev Eukaryot Gene Expr. 2020;30(2):125-136. doi: 10.1615/CritRevEukaryotGeneExpr.2020033468. Crit Rev Eukaryot Gene Expr. 2020. PMID: 32558492 Review.
BACKGROUND: The association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism (rs1801133) and childhood acute lymphoblastic leukemia (ALL) is inconsistent. ...However, there was no significant difference between the allele model and reces …
BACKGROUND: The association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism (rs1801133) and chil …
Homocysteine and Hyperhomocysteinaemia.
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER. Zaric BL, et al. Curr Med Chem. 2019;26(16):2948-2961. doi: 10.2174/0929867325666180313105949. Curr Med Chem. 2019. PMID: 29532755 Review.
Elevated Hcy levels are connected with various pathologies both in adult and child population. Causes of HHcy include genetic mutations and enzyme deficiencies in 5, 10-methylenetetrahydrofolate reductase (MTHFR) methionine synthase (MS), and cystathio …
Elevated Hcy levels are connected with various pathologies both in adult and child population. Causes of HHcy include genetic mutatio …
[Association between MTHFR gene polymorphism and primary hypertension in children].
Wang H, Liu YY, Zhang Y, Chen XL, Shi L. Wang H, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2022 May 15;24(5):579-584. doi: 10.7499/j.issn.1008-8830.2112037. Zhongguo Dang Dai Er Ke Za Zhi. 2022. PMID: 35644200 Free PMC article. Chinese.
OBJECTIVES: To study the distribution characteristics of methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in children with primary hypertension, and to explore the association between MTHFR C677T gene polymorphism and H-type h …
OBJECTIVES: To study the distribution characteristics of methylenetetrahydrofolate reductase (MTHFR) C677T gene polymor …
Neural tube defects: recent advances, unsolved questions, and controversies.
Copp AJ, Stanier P, Greene ND. Copp AJ, et al. Lancet Neurol. 2013 Aug;12(8):799-810. doi: 10.1016/S1474-4422(13)70110-8. Epub 2013 Jun 19. Lancet Neurol. 2013. PMID: 23790957 Free PMC article. Review.
An innovation in clinical management has come from the finding that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention with folic acid has been enhanced through introduction of mandatory food fortification in …
An innovation in clinical management has come from the finding that closure of open spina bifida lesions in utero can diminish neurological …
Interictal epileptiform discharges on electroencephalography in children with methylenetetrahydrofolate reductase (MTHFR) polymorphisms.
Karatoprak E, Sozen G, Yılmaz K, Ozer I. Karatoprak E, et al. Neurol Sci. 2020 Mar;41(3):631-636. doi: 10.1007/s10072-019-04119-4. Epub 2019 Nov 16. Neurol Sci. 2020. PMID: 31734877
OBJECTIVE: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism. ...Interictal epileptiform EEG discharges were detected in 3 children (2.9%). CONCLUSION: There was no increase in the prevalence of interictal …
OBJECTIVE: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism. ...Interic …
Yoga: A Natural Solution to Decrease Disease Burden in Children of MTHFR Deficient Parents.
Borthakur D, Kumar R, Dada R. Borthakur D, et al. Clin Ter. 2023 Jan-Feb;174(1):28-32. doi: 10.7417/CT.2023.5005. Clin Ter. 2023. PMID: 36655641 Free article. Clinical Trial.
CONCLUSION: MTHFR polymorphisms are also independently associated with many paediatric diseases. Diagnosing MTHFR deficiency in children is a challenging job and requires high index of suspicion and continuous vigilance. Yoga based lifestyle may be adopted bo …
CONCLUSION: MTHFR polymorphisms are also independently associated with many paediatric diseases. Diagnosing MTHFR deficiency i …
MTHFR C677T Polymorphism, Plasma Homocysteine, and PDGF-AA Levels and Transcranial Doppler Velocity in Children With Sickle Cell Disease.
Mahmoud AA, Abd El Hady NMS, Rizk MS, El-Hawwary AM, Saleh NY. Mahmoud AA, et al. Indian Pediatr. 2023 Aug 15;60(8):651-654. Epub 2023 May 30. Indian Pediatr. 2023. PMID: 37260067 Free article.
OBJECTIVE: To evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism on plasma homocysteine (tHcy) and platelet-derived growth factor (PDGF-AA) levels in children with sickle cell disease (SCD), and ascertain their role i …
OBJECTIVE: To evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism on plasma homocyste …
1,535 results