نتایج جستجو برای: mthfd1

تعداد نتایج: 113  

Journal: :Genetics 1998
Y S Rong K G Golic

We have isolated a dominant mutation, pugilistDominant (pugD), that causes variegated reductions in pteridine and ommochrome pigmentation of the Drosophila eye. The effect of pugD on pteridine pigmentation is most dramatic: the only remaining pigment consists of a thin ring of pigment around the periphery of the eye with a few scattered spots in the center. The pugD mutation disrupts a gene tha...

2012
Javed Y. Fowdar Marta V. Lason Attila L. Szvetko Rodney A. Lea Lyn R. Griffiths

Hyperhomocysteinemia (hHcy) has been associated with an increased risk of cardiovascular disease and stroke. Essential hypertension (EH), a polygenic condition, has also been associated with increased risk of cardiovascular related disorders. To investigate the role of the homocysteine (Hcy) metabolism pathway in hypertension we conducted a case-control association study of Hcy pathway gene var...

Journal: :Thrombosis and haemostasis 2010
Betti Giusti Claudia Saracini Paola Bolli Alberto Magi Ida Martinelli Flora Peyvandi Maurizia Rasura Massimo Volpe Luca A Lotta Speranza Rubattu Pier Mannuccio Mannucci Rosanna Abbate

The hypothesis underlying this study is that variations in genes involved in methionine metabolism may contribute to genetic susceptibility for early-onset ischaemic stroke. We investigated 58 polymorphisms in AHCY, BHMT, BHMT2, CBS, ENOSF1, FOLH1, MTHFD1, MTHFR, MTR, MTRR, NNMT, PON1, PON2, SLC19A1, SHMT1, TCN2, TYMS genes on genomic DNA from 501 young patients who survived ischaemic stroke an...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010
Linda E Kelemen Marc T Goodman Valerie McGuire Mary Anne Rossing Penelope M Webb Martin Köbel Hoda Anton-Culver Jonathan Beesley Andrew Berchuck Sony Brar Michael E Carney Jenny Chang-Claude Georgia Chenevix-Trench Daniel W Cramer Julie M Cunningham Richard A Dicioccio Jennifer A Doherty Douglas F Easton Zachary S Fredericksen Brooke L Fridley Margaret A Gates Simon A Gayther Aleksandra Gentry-Maharaj Estrid Høgdall Susanne Krüger Kjaer Galina Lurie Usha Menon Patricia G Moorman Kirsten Moysich Roberta B Ness Rachel T Palmieri Celeste L Pearce Paul D P Pharoah Susan J Ramus Honglin Song Daniel O Stram Shelley S Tworoger David Van Den Berg Robert A Vierkant Shan Wang-Gohrke Alice S Whittemore Lynne R Wilkens Anna H Wu Joellen M Schildkraut Thomas A Sellers Ellen L Goode

BACKGROUND We previously reported the risks of ovarian carcinoma for common polymorphisms in one-carbon transfer genes. We sought to replicate associations for DPYD rs1801265, DNMT3A rs13420827, MTHFD1 rs1950902, MTHFS rs17284990, and TYMS rs495139 with risk of ovarian carcinoma overall and to use the large sample of assembled cases to investigate associations by histologic type. METHODS Asso...

2017
Błażej Misiak Łukasz Łaczmański Natalia Kinga Słoka Elżbieta Szmida Ryszard Ślęzak Patryk Piotrowski Andrzej Kiejna Dorota Frydecka

Background In this study, we aimed to investigate the effects of polymorphisms in genes encoding 1-carbon metabolism enzymes on differential development of metabolic parameters during 12 weeks of treatment with second-generation antipsychotics in first-episode schizophrenia patients. Methods The following polymorphisms in 1-carbon metabolism genes were genotyped: MTHFR (C677T and A1298C), MTH...

2015
Matt J. Silver Karen D. Corbin Garrett Hellenthal Kerry-Ann da Costa Paula Dominguez-Salas Sophie E. Moore Jennifer Owen Andrew M. Prentice Branwen J. Hennig Steven H. Zeisel

Choline is an essential nutrient, and the amount needed in the diet is modulated by several factors. Given geographical differences in dietary choline intake and disparate frequencies of single-nucleotide polymorphisms (SNPs) in choline metabolism genes between ethnic groups, we tested the hypothesis that 3 SNPs that increase dependence on dietary choline would be under negative selection press...

2005
Gert-Jan J Kaspers Godefridus J Peters Yaddanapudi Ravindranath Rob Pieters Robert de Jonge Jan H Hooijberg Bertrand D van Zelst Gerrit Jansen Christina H van Zantwijk R. de Jonge J. H. Hooijberg B. D. van Zelst G. Jansen C. H. van Zantwijk G.J.L Kaspers G. J. Peters Y. Ravindranath R. Pieters J. Lindemans

We studied whether common polymorphisms in genes involved in folate metabolism affect MTX sensitivity. Ex-vivo MTX sensitivity of lymphoblasts obtained from pediatric ALL patients (n=157) was determined by the in-situ thymidylate synthase inhibition assay after either continuous (21-h; TSI50,cont) or short-term (3-h; TSI50,short) MTX exposure. DNA was isolated from lymphoblasts obtained from cy...

2013
Jaya Ganesh Meredith Heltzer Michele Paessler A. G. Christina Bergqvist H. Jorge Baluarte David Watkins David S. Rosenblatt Jordan S. Orange

Folate and vitamin B12 metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided part...

2013
Agata Rozycka Pawel P. Jagodzinski Wojciech Kozubski Margarita Lianeri Jolanta Dorszewska

An elevated concentration of total homocysteine (tHcy) in plasma and cerebrospinal fluid is considered to be a risk factor for Alzheimer's disease (AD) and Parkinson's disease (PD). Homocysteine (Hcy) levels are influenced by folate concentrations and numerous genetic factors through the folate cycle, however, their role in the pathogenesis of PD remains controversial. Hcy exerts a neurotoxic a...

Journal: :Blood 2005
Robert de Jonge Jan Hendrik Hooijberg Bertrand D van Zelst Gerrit Jansen Christina H van Zantwijk Gertjan J L Kaspers Godefridus J Peters Yaddanapudi Ravindranath Rob Pieters Jan Lindemans

We studied whether common polymorphisms in genes involved in folate metabolism affect methotrexate (MTX) sensitivity. Ex vivo MTX sensitivity of lymphoblasts obtained from pediatric patients with acute lymphoblastic leukemia (ALL; n = 157) was determined by the in situ thymidylate synthase inhibition assay after either continuous (21 hours; TSI(50, cont)) or short-term (3 hours; TSI(50, short))...

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