Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
CTH G1208T and MTHFR A1298C polymorphisms are associated with a higher risk of a first myocardial infarction with fatal outcome among women.
Söderström E et al.
Drug Metabolism and Personalized Therapy, 2023
NOS3 and CTH gene mutations as new molecular markers for detection of lung adenocarcinoma.
Abdullah Ramadhan I et al.
Peerj, 2023
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.
Khan S et al.
Bmc Research Notes, 2021
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Association study of the CTH 1364 G>T polymorphism with coronary artery disease in the Greek population.
Giannakopoulou E et al.
Drug Metabolism and Personalized Therapy, 2019
Association of CTH variant with sinusoidal obstruction syndrome in children receiving intravenous busulfan and cyclophosphamide before hematopoietic stem cell transplantation.
Huezo-Diaz Curtis P et al.
The Pharmacogenomics Journal, 2018
Hydrogen sulphide-related thiol metabolism and nutrigenetics in relation to hypertension in an elderly population.
Lucock M et al.
Genes & Nutrition, 2013
Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.
Carter TC et al.
American Journal of Medical Genetics. Part A, 2011
Variations in folate pathway genes are associated with unexplained female infertility.
Altmäe S et al.
Fertility and Sterility, 2010
Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.
Kumar J et al.
Circulation. Cardiovascular Genetics, 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
Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.
Kraus JP et al.
Molecular Genetics and Metabolism, 2009
Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase.
Zhu W et al.
Biochemistry, 2008
Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer.
Moore LE et al.
International Journal of Cancer, 2007
Mining literature for a comprehensive pathway analysis: a case study for retrieval of homocysteine related genes for genetic and epigenetic studies.
Sharma P et al.
Lipids in Health and Disease, 2006
Single nucleotide polymorphism in CTH associated with variation in plasma homocysteine concentration.
Wang J et al.
Clinical Genetics, 2004
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).
Wang J et al.
Human Genetics, 2003