Associated Papers
A narrative review on the role of folate-mediated one-carbon metabolism and its associated gene polymorphisms in posing risk to preeclampsia.
Mahmood S et al.
Clinical and Experimental Hypertension (new York, N.y. : 1993), 2021
Hyperhomocysteinemia and dyslipidemia in point mutation G307S of cystathionine β-synthase-deficient rabbit generated using CRISPR/Cas9.
Zhang T et al.
Lipids in Health and Disease, 2020
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
Weber Hoss GR et al.
Molecular Genetics & Genomic Medicine, 2020
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S et al.
Genome Medicine, 2020
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
Association of Cystathionine β-Synthase Gene Polymorphisms With Preeclampsia.
de León Bautista MP et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.
Chin EL et al.
Bmc Genetics, 2013
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Singh LR et al.
Plos Genetics, 2010
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
Bermúdez M et al.
Human Mutation, 2006
Screening for serum total homocysteine in newborn children.
Refsum H et al.
Clinical Chemistry, 2004
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Kruger WD et al.
Human Mutation, 2003
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.
Guttormsen AB et al.
American Journal of Medical Genetics, 2001
Four common mutations of the cystathionine beta-synthase gene detected by multiplex PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
Harksen A et al.
Clinical Chemistry, 1999
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Temperature and pH effects on single-strand conformation polymorphism analysis by capillary electrophoresis.
Ren J et al.
Human Mutation, 1999
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Kim CE et al.
Human Molecular Genetics, 1997
Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
Watanabe T et al.
The Journal of Medical Investigation : Jmi, 1997
Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
Singh RH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
The role of cystathionine beta-synthase in homocysteine metabolism.
Jhee KH et al.
Antioxidants & Redox Signaling, 0