Associated Papers
Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysis.
Watkins D et al.
Molecular Genetics and Metabolism, 2025
The common homocystinuria-associated P1173L variant of human methionine synthase impairs reductive methylation.
Guha A et al.
The Journal of Biological Chemistry, 2025
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kripps KA et al.
Journal of Inherited Metabolic Disease, 2022
One-carbon metabolism pathway genes and their non-association with the development of amyotrophic lateral sclerosis.
de Lima NS et al.
Journal of Cellular Biochemistry, 2022
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.
De Biase I et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Concerning "Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes" by Farwell Gonzalez et al.
Sremba L et al.
Journal of Inherited Metabolic Disease, 2020
Predicting the functional and structural consequences of nsSNPs in human methionine synthase gene using computational tools.
Desai M et al.
Systems Biology in Reproductive Medicine, 2019
Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.
Liu Y et al.
Journal of Human Genetics, 2019
An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.
Kasapkara ÇS et al.
The Turkish Journal of Pediatrics, 2019
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.
Farwell Gonzalez KD et al.
Jimd Reports, 2015
Concept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.
Joslin AC et al.
Genes & Nutrition, 2014
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
Fofou-Caillierez MB et al.
Human Molecular Genetics, 2013
Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
Watkins D et al.
Journal of Inherited Metabolic Disease, 2012
Inborn errors of cobalamin absorption and metabolism.
Watkins D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies.
Stover PJ
Journal of Nutrigenetics and Nutrigenomics, 2011
E112D polymorphism in the prolylcarboxypeptidase gene is associated with blood pressure response to benazepril in Chinese hypertensive patients.
Zhang Y et al.
Chinese Medical Journal, 2009
Investigation of inter-individual variability of the one-carbon folate pathway: a bioinformatic and genetic review.
Carr DF et al.
The Pharmacogenomics Journal, 2009
Crystal structure and solution characterization of the activation domain of human methionine synthase.
Wolthers KR et al.
The Febs Journal, 2007
Novel genomic loci influencing plasma homocysteine levels.
Kullo IJ et al.
Stroke, 2006
D919G polymorphism of methionine synthase gene is associated with blood pressure response to benazepril in Chinese hypertensive patients.
Zhang Y et al.
Journal of Human Genetics, 2004
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.
Vilaseca MA et al.
Journal of Inherited Metabolic Disease, 2003
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
Watkins D et al.
American Journal of Human Genetics, 2002
Defects in auxiliary redox proteins lead to functional methionine synthase deficiency.
Gulati S et al.
The Journal of Biological Chemistry, 1997
Methionine auxotrophy in inborn errors of cobalamin metabolism.
Garovic-Kocic V et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 1992
Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.
Pinales BE et al.
Differentiation; Research in Biological Diversity, 0