نتایج جستجو برای: methylenetetrahydrofolate reductase deficiency

تعداد نتایج: 180150  

Journal: :Journal of clinical gastroenterology 2014
Shadi S Yarandi Daniel P Griffith Rahul Sharma Arun Mohan Vivian M Zhao Thomas R Ziegler

Malabsorptive bariatric surgery is rapidly becoming a major cause of copper deficiency given the increasing prevalence of these procedures for morbid obesity. Acquired copper deficiency can present with clinically significant hematologic and neurological manifestations. Although hematologic manifestations of copper deficiency are rapidly reversible, significant neurological improvement after co...

2015
Ali Riza Cenk Celebi Sibel Kadayifcilar Bora Eldem

Purpose. To report the efficacy of hyperbaric oxygen (HBO) therapy in a case of branch retinal artery occlusion (BRAO) in a 15-year-old boy. Methods. We report a 15-year-old boy with sudden loss of vision due to BRAO. Examination included laboratory evaluation for systemic risk factors. Follow-up exams included visual acuity, fundus examination, fundus fluorescein angiography, and visual field ...

Journal: :In vivo 2005
Ugur Deligezer E Ebru Akisik Nejat Dalay

BACKGROUND Folate deficiency is implicated in cancer development. Single nucleotide polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene can modulate the effect of folate. In this case-controlled study, a possible effect of the common MTHFR C677T (ala-->val) polymorphism on breast cancer susceptibility in Turkish patients was investigated. MATERIALS AND METHODS Polymorphism a...

Journal: :Endocrinology 2010
Donovan Chan Duncan W Cushnie Oana R Neaga Andrea K Lawrance Rima Rozen Jacquetta M Trasler

Methylenetetrahydrofolate reductase (MTHFR) is a crucial folate pathway enzyme that contributes to the maintenance of cellular pools of S-adenosylmethionine, the universal methyl donor for several reactions including DNA methylation. Whereas Mthfr(-/-) BALB/c mice show growth retardation, developmental delay, and spermatogenic defects and infertility, C57BL/6 mice appear to have a less severe p...

2014
Ramin Ansari Ali Mahta Eric Mallack Jin Jun Luo

Homocysteine (Hcy) is a sulfur-containing amino acid that is generated during methionine metabolism. It has a physiologic role in DNA metabolism via methylation, a process governed by the presentation of folate, and vitamins B6 and B12. Physiologic Hcy levels are determined primarily by dietary intake and vitamin status. Elevated plasma levels of Hcy (eHcy) can be caused by deficiency of either...

2012
Danuta Wojcieszyńska Katarzyna Hupert-Kocurek Urszula Guzik

Statistical studies have demonstrated that various agents may reduce the risk of cancer's development. One of them is activity of flavin-dependent enzymes such as flavin-containing monooxygenase (FMO)(GS-OX1), FAD-dependent 5,10-methylenetetrahydrofolate reductase and flavin-dependent monoamine oxidase. In the last decade, many papers concerning their structure, reaction mechanism and role in t...

Journal: :American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010
Sarah Cohen-Woods Ian Craig Darya Gaysina Joanna Gray Cerisse Gunasinghe Nick Craddock Amanda Elkin Lisa Jones James Kennedy Nicole King Ania Korszun Jo Knight Michael Owen Sagar Parikh John Strauss Abram Sterne Federica Tozzi Julia Perry Pierandrea Muglia John Vincent Peter McGuffin Anne Farmer

Bipolar disorder (BD) is a complex genetic disease for which the underlying pathophysiology has yet to be fully explained. 5,10-Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in folate-mediated one-carbon metabolism and folate deficiency can be associated with psychiatric symptoms. A single base variant in MTHFR gene (C677T) results in the production of a mildly dysfunctional t...

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