Associated Papers
Genetic Insights into Hemiplegic Migraine: Whole Exome Sequencing Highlights Vascular Pathway Involvement via Association Analysis.
Molaee Z et al.
Genes, 2025
Heterozygous Mutations in Both the AMN and CBS Genes: Double Haploinsufficiency as an Unusual Cause of Vitamin B12 Deficiency-A Case Report.
Iversen PO et al.
Clinical Case Reports, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure.
Berkay EG et al.
Molecular Genetics and Genomics : Mgg, 2023
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.
Kruger WD
Human Genetics, 2022
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
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
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
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Dagar V et al.
Clinical Epigenetics, 2018
Acute psychosis in an adolescent with undiagnosed homocystinuria.
Colafrancesco G et al.
European Journal of Pediatrics, 2015
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
Melenovská P et al.
Journal of Inherited Metabolic Disease, 2015
Conformational properties of nine purified cystathionine β-synthase mutants.
Hnízda A et al.
Biochemistry, 2012
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.
Hnízda A et al.
Journal of Inherited Metabolic Disease, 2012
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Classical familial homocystinuria in an adult presenting as an isolated lens subluxation.
Martínez-Gutiérrez JD et al.
International Ophthalmology, 2011
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
Kopecká J et al.
Journal of Inherited Metabolic Disease, 2011
Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
Magner M et al.
Journal of Inherited Metabolic Disease, 2011
Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.
Beard RS et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2011
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Kozich V et al.
Human Mutation, 2010
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Skovby F et al.
Molecular Genetics and Metabolism, 2010
Correlation between cystathionine beta synthase gene polymorphisms, plasma homocysteine and idiopathic mental retardation in Indian individuals from Kolkata.
Dutta S et al.
Neuroscience Letters, 2009
Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene.
Janosík M et al.
The Journal of Pediatrics, 2009
Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.
Jakubowski H et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008
Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.
Yamanishi M et al.
Journal of Inorganic Biochemistry, 2006
Screening for serum total homocysteine in newborn children.
Refsum H et al.
Clinical Chemistry, 2004
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Gaustadnes M et al.
Human Mutation, 2002
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
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
European Journal of Pediatrics, 1998
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