Results 1 to 10 of about 13,481 (184)

Thermolabile Methylenetetrahydrofolate Reductase in Coronary Artery Disease [PDF]

Circulation, 1997
Background Hyperhomocysteinemia, an independent and graded risk factor for coronary artery disease (CAD), may result from both environmental and hereditary factors. Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of methylenetetrahydrofolate to methyltetrahydrofolate, the methyl donor in the remethylation ...
Kluijtmans, L.A.J., Kastelein, J.J.P., Lindemans, J., Boers, G.H.J., Heil, S.G., Bruschke, A.V.G., Jukema, J.W., van den Heuvel, L.P.W.J., Trijbels, F.J.M., Boerma, G.J.M., Verheugt, F.W.A., Willems, F., Blom, H.J.   +12 more
openaire   +8 more sources

Methylenetetrahydrofolate reductase and psychiatric diseases [PDF]

Translational Psychiatry, 2018
Abstract Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme for the critical process of one-carbon metabolism involving folate and homocysteine metabolisms. It is known that some polymorphism of MTHFR would result in reduction of MTHFR enzyme activity as well as DNA
Wan, Lin, Li, Yuhong, Zhang, Zhengrong, Sun, Zuoli, He, Yi, Li, Rena   +5 more
openaire   +2 more sources

Methylenetetrahydrofolate Reductase Polymorphisms and Pregnancy Outcome [PDF]

Geburtshilfe und Frauenheilkunde, 2018
Abstract Introduction Aim of the study was to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on pregnancy outcome. Materials and Methods A total of 617 pregnancies of women who were investigated for MTHFR C677T and A1298C polymorphisms prior to pregnancy were included in the study.
GÜMRÜK, FATMA, BEKSAÇ, MEHMET SİNAN, TURĞAL, MERT, Karaagaoglu, Ergun   +3 more
openaire   +3 more sources

Methylenetetrahydrofolate Reductase CpG Islands: Epigenotyping [PDF]

Journal of Clinical Laboratory Analysis, 2015
BackgroundDetermination of the differential DNA methylation patterns of methylenetetrahydrofolate reductase (MTHFR) that are associated with differential MTHFR activity is important to understand the pathogenesis of ischemic stroke. However, to date, no data are available on the differential DNA methylation profiles of Kelantanese Malays. Therefore, we
Loo, Keat Wei, Sutherland, Heidi, Au, Anthony, Camilleri, Emily, Haupt, Larisa, Gan, Siew Hua, Griffiths, Lyn   +6 more
openaire   +3 more sources

Regulation of human methylenetetrahydrofolate reductase by phosphorylation [PDF]

Proceedings of the National Academy of Sciences, 2005
Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, the methyl donor for the conversion of homocysteine to methionine. Regulation of MTHFR activity is crucial for maintaining cellular concentrations of methionine and S ...
Kazuhiro, Yamada, John R, Strahler, Philip C, Andrews, Rowena G, Matthews   +3 more
openaire   +2 more sources

Methylenetetrahydrofolate Reductase in Cultured Human Cells. II. Genetic and Biochemical Studies of Methylenetetrahydrofolate Reductase Deficiency [PDF]

Pediatric Research, 1977
Summary: Methylenetetrahydrofolate (methylene-H4PteGlu) reductase activities in extracts of both normal and reductase-deficient cells were low and quite variable during the logarithmic phase of growth. Higher activities were detected reproducibly when the cultures were confluent.
D S, Rosenblatt, R W, Erbe
openaire   +2 more sources

Exploratory Evidence of a Gene–Smoking Interaction Involving MTR rs1805087 in Type 2 Diabetes Mellitus

ELECTROPHORESIS, EarlyView.
The graphical abstract illustrates how smoking interacts with an MTR rs1805087 gene variant to promote insulin resistance and β‐cell dysfunction through alterations in the folate cycle. PCR–RFLP genotyping and machine‐learning analysis support an exploratory assessment linking these combined factors to increased Type 2 diabetes risk in susceptible ...
João Pedro Costa Roriz, Leandro Prado Assunção, Nayane Soares de Lima, Diolina Gonçalves da Silva, Rodrigo da Silva Santos, Angela Adamski da Silva Reis   +5 more
wiley   +1 more source

Clinical predictors of response to methotrexate in patients with rheumatoid arthritis: A systematic review

Rheumatology &Autoimmunity, EarlyView.
This review integrates clinical, immunological, genetic, and multi‐omic evidence, highlighting dynamic inflammatory and adenosine‐pathway biomarkers and reinforcing treat‐to‐target principles as the most actionable framework for personalized methotrexate therapy.
Joana Ramos Rodrigues, Helena Margarida de Miranda Lemos Romão Donato, Soraia Raquel Loureiro Azevedo, Luís Miguel da Silva Pires, Luís Pedro Bolotinha de Sousa Inês, Manuel Augusto Nunes Vicente Passos Morgado, Ana Filipa de Sousa Pestana Mourão   +6 more
wiley   +1 more source

Relationships among nitrous oxide exposure, neurological injury and biomarkers

British Journal of Clinical Pharmacology, Volume 92, Issue 11, Page 3959-3971, November 2026.
Aims Recreational nitrous oxide (N2O) misuse is an increasing public health problem associated with functional cobalamin (B12) deficiency and severe neurological complications. Despite growing recognition of its harms, the dose–response relationship and clinical value of biomarkers remain unclear.
Laxna Bhujel, Angela L. Chiew, Bhashita Jagarlamudi, Pramod Chandru, Naren Gunja, Nancy Briggs, Betty S. Chan   +6 more
wiley   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source