| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Markus Meier, Jana Oliveriusova, Jan P Kraus, Peter Burkhar. Structural insights into mutations of cystathionine beta-synthase. Biochimica et biophysica acta. vol 1647. issue 1-2. 2003-06-05. PMID:12686134. |
presently, more than 100 cbs mutations have been described which lead to homocystinuria with different degrees of severity in the patients. |
2003-06-05 |
2023-08-12 |
Not clear |
| Mette Gaustadnes, Bridget Wilcken, Jana Oliveriusova, Jim McGill, Janice Fletcher, Jan P Kraus, David E Wilcke. The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Human mutation. vol 20. issue 2. 2002-08-16. PMID:12124992. |
cystathionine beta-synthase (cbs) deficiency is the most common cause of homocystinuria. |
2002-08-16 |
2023-08-12 |
Not clear |
| Reza Yaghmai, Amir H Kashani, Michael T Geraghty, Jay Okoh, Martin Pomper, Albert Tangerman, Conrad Wagner, Sally P Stabler, Robert H Allen, S Harvey Mudd, Nancy Braverma. Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. American journal of medical genetics. vol 108. issue 1. 2002-08-02. PMID:11857551. |
cystathionine beta-synthase (cbs) deficiency, the most common form of homocystinuria, is an autosomal recessive inborn error of homocysteine metabolism. |
2002-08-02 |
2023-08-12 |
Not clear |
| Kenneth N Maclean, Mette Gaustadnes, Jana Oliveriusová, Miroslav Janosík, Eva Kraus, Viktor Kozich, Vladimír Kery, Flemming Skovby, Niels Rüdiger, Jørgen Ingerslev, Sally P Stabler, Robert H Allen, Jan P Krau. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Human mutation. vol 19. issue 6. 2002-06-27. PMID:12007221. |
homocystinuria due to cbs deficiency confers a dramatically increased risk of thrombosis. |
2002-06-27 |
2023-08-12 |
Not clear |
| Kenneth N Maclean, Mette Gaustadnes, Jana Oliveriusová, Miroslav Janosík, Eva Kraus, Viktor Kozich, Vladimír Kery, Flemming Skovby, Niels Rüdiger, Jørgen Ingerslev, Sally P Stabler, Robert H Allen, Jan P Krau. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Human mutation. vol 19. issue 6. 2002-06-27. PMID:12007221. |
the p422l and s466l mutations were found in patients suffering premature thrombosis and homocystinuric levels of hcy but lacking any of the connective tissue disorders typical of homocystinuria due to cbs deficiency. |
2002-06-27 |
2023-08-12 |
Not clear |
| Kenneth N Maclean, Mette Gaustadnes, Jana Oliveriusová, Miroslav Janosík, Eva Kraus, Viktor Kozich, Vladimír Kery, Flemming Skovby, Niels Rüdiger, Jørgen Ingerslev, Sally P Stabler, Robert H Allen, Jan P Krau. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Human mutation. vol 19. issue 6. 2002-06-27. PMID:12007221. |
our findings illustrate the importance of adomet for the regulation of hcy metabolism and are consistent with the possibility that the characteristic connective tissue disturbances observed in homocystinuria due to cbs deficiency may not be due to elevated hcy. |
2002-06-27 |
2023-08-12 |
Not clear |
| J Sokolová, B Janosíková, J D Terwilliger, T Freiberger, J P Kraus, V Kozic. Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Human mutation. vol 18. issue 6. 2002-03-07. PMID:11748855. |
recent reports suggested that homocystinuria due to cystathionine beta-synthase (cbs) deficiency is a more common inborn error of metabolism than originally thought. |
2002-03-07 |
2023-08-12 |
Not clear |
| U Tröndle, G Sunder-Plassmann, H Burgmann, H Buchmayer, L Kramer, C Bieglmayer, W H Hörl, M Födinge. Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency. Acta medica Austriaca. vol 28. issue 5. 2002-01-24. PMID:11774777. |
the influence of the genotype on the phenotypic expression of homocystinuria due to cystathionine beta-synthase (cbs) deficiency is frequently unclear. |
2002-01-24 |
2023-08-12 |
Not clear |
| M Meier, M Janosik, V Kery, J P Kraus, P Burkhar. Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein. The EMBO journal. vol 20. issue 15. 2001-09-27. PMID:11483494. |
deficiency of cbs leads to homocystinuria, an inherited disease of sulfur metabolism characterized by increased levels of the toxic metabolite homocysteine. |
2001-09-27 |
2023-08-12 |
human |
| M Janosík, V Kery, M Gaustadnes, K N Maclean, J P Krau. Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region. Biochemistry. vol 40. issue 35. 2001-09-27. PMID:11524006. |
inherited deficiency of cbs causes homocystinuria. |
2001-09-27 |
2023-08-12 |
human |
| M Linnebank, A Homberger, J P Kraus, E Harms, V Kozich, H G Koc. Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12. Human mutation. vol 17. issue 4. 2001-08-16. PMID:11295835. |
homocystinuria is most frequently due to deficiency of cystathionine beta-synthase (cbs). |
2001-08-16 |
2023-08-12 |
human |
| M Linnebank, A Homberger, J P Kraus, E Harms, V Kozich, H G Koc. Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12. Human mutation. vol 17. issue 4. 2001-08-16. PMID:11295835. |
the novel haplotype system may facilitate future studies on the evolution of the cbs gene and might be suited for genotyping of families affected by homocystinuria. |
2001-08-16 |
2023-08-12 |
human |
| X Shan, R L Dunbrack, S A Christopher, W D Kruge. Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis. Human molecular genetics. vol 10. issue 6. 2001-06-28. PMID:11230183. |
mutations in cbs are known to cause homocystinuria, an inborn error in metabolism. |
2001-06-28 |
2023-08-12 |
human |
| M Janosik, M Meier, V Kery, J Oliveriusova, P Burkhard, J P Krau. Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease. Acta crystallographica. Section D, Biological crystallography. vol 57. issue Pt 2. 2001-04-19. PMID:11173483. |
deficiency of cbs leads to homocystinuria, an autosomal recessively inherited disease of sulfur metabolism. |
2001-04-19 |
2023-08-12 |
human |
| S Yap, E R Naughten, B Wilcken, D E Wilcken, G H Boer. Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. Seminars in thrombosis and hemostasis. vol 26. issue 3. 2001-02-08. PMID:11011851. |
homocystinuria (hcu) due to cystathionine beta-synthase (cbs) deficiency leads to severe hyperhomocysteinemia (hhcy). |
2001-02-08 |
2023-08-12 |
Not clear |
| A K Majors, R E Pyerit. A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency. Molecular genetics and metabolism. vol 70. issue 4. 2000-10-20. PMID:10993712. |
cystathionine beta-synthase (cbs) deficiency is an inborn error of amino acid metabolism that has pleiotropic manifestations and is commonly called "homocystinuria." |
2000-10-20 |
2023-08-12 |
Not clear |
| A Tangerman, B Wilcken, H L Levy, G H Boers, S H Mud. Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency. Metabolism: clinical and experimental. vol 49. issue 8. 2000-08-30. PMID:10954028. |
to assess the ability of patients with homocystinuria due to cystathionine beta-synthase (cbs) deficiency to perform the reactions of the methionine transamination pathway, the concentrations of the products of this pathway were measured in plasma and urine. |
2000-08-30 |
2023-08-12 |
Not clear |
| S Chen, M Ito, T Saijo, E Naito, Y Kurod. Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period. The journal of medical investigation : JMI. vol 46. issue 3-4. 2000-04-13. PMID:10687314. |
two mutations in the cystathionine beta-synthase (cbs) gene were found in two japanese siblings with pyridoxine non-responsive homocystinuria who had different methionine levels in their blood during the neonatal period. |
2000-04-13 |
2023-08-12 |
Not clear |
| R de Franchis, E Kraus, V Kozich, G Sebastio, J P Krau. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. Human mutation. vol 13. issue 6. 1999-11-03. PMID:10408774. |
homocystinuria due to cystathionine beta-synthase (cbs) deficiency is frequently caused by missense mutations. |
1999-11-03 |
2023-08-12 |
Not clear |
| S C Li, P M Stewar. Homocystinuria and psychiatric disorder: a case report. Pathology. vol 31. issue 3. 1999-11-01. PMID:10503267. |
deficiency of cystathionine beta-synthase (cbs) is the commonest cause of primary homocystinuria. |
1999-11-01 |
2023-08-12 |
Not clear |