| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| A Harksen, P M Ueland, H Refsum, K Meye. Four common mutations of the cystathionine beta-synthase gene detected by multiplex PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Clinical chemistry. vol 45. issue 8 Pt 1. 1999-08-17. PMID:10430779. |
a deficiency of cystathionine beta-synthase (cbs) is the most frequent cause of homocystinuria. |
1999-08-17 |
2023-08-12 |
Not clear |
| J P Kraus, M Janosík, V Kozich, R Mandell, V Shih, M P Sperandeo, G Sebastio, R de Franchis, G Andria, L A Kluijtmans, H Blom, G H Boers, R B Gordon, P Kamoun, M Y Tsai, W D Kruger, H G Koch, T Ohura, M Gaustadne. Cystathionine beta-synthase mutations in homocystinuria. Human mutation. vol 13. issue 5. 1999-08-11. PMID:10338090. |
the major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (cbs). |
1999-08-11 |
2023-08-12 |
Not clear |
| L A Kluijtmans, G H Boers, J P Kraus, L P van den Heuvel, J R Cruysberg, F J Trijbels, H J Blo. The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. American journal of human genetics. vol 65. issue 1. 1999-08-05. PMID:10364517. |
the molecular basis of cystathionine beta-synthase deficiency in dutch patients with homocystinuria: effect of cbs genotype on biochemical and clinical phenotype and on response to treatment. |
1999-08-05 |
2023-08-12 |
Not clear |
| L A Kluijtmans, G H Boers, J P Kraus, L P van den Heuvel, J R Cruysberg, F J Trijbels, H J Blo. The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. American journal of human genetics. vol 65. issue 1. 1999-08-05. PMID:10364517. |
homocystinuria due to cystathionine beta-synthase (cbs) deficiency, inherited as an autosomal recessive trait, is the most prevalent inborn error of methionine metabolism. |
1999-08-05 |
2023-08-12 |
Not clear |
| R B Gordon, A J Cox, P A Dawson, B T Emmerson, J P Kraus, N P Dudma. Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online. Human mutation. vol 11. issue 4. 1999-04-19. PMID:10215408. |
rt-pcr and direct sequence analyses were used to define mutations in the cystathionine beta-synthase (cbs) gene in two unrelated male patients with vitamin b6 nonresponsive homocystinuria. |
1999-04-19 |
2023-08-12 |
Not clear |
| E Cardo, J Campistol, J Caritg, S Ruiz, M A Vilaseca, F Kirkham, H J Blo. Fatal haemorrhagic infarct in an infant with homocystinuria. Developmental medicine and child neurology. vol 41. issue 2. 1999-03-22. PMID:10075100. |
homocystinuria due to cystathionine beta-synthase (cbs) deficiency was diagnosed by metabolite analysis and confirmed by enzymatic activity measurement in a postmortem liver biopsy. |
1999-03-22 |
2023-08-12 |
Not clear |
| b' I Qu\\xc3\\xa9r\\xc3\\xa9, V Paul, C Rouillac, C Janbon, J London, J Demaille, P Kamoun, J L Dufier, M Abitbol, J F Chass\\xc3\\xa. Spatial and temporal expression of the cystathionine beta-synthase gene during early human development. Biochemical and biophysical research communications. vol 254. issue 1. 1999-02-25. PMID:9920745.' |
we demonstrate by in situ hybridization that cbs is continuously expressed from the earliest stages studied (22 days post conception) during embryogenesis in the tissues of developing embryos which will after birth present clinical abnormalities in homocystinuria patients. |
1999-02-25 |
2023-08-12 |
human |
| J P Kraus, J Oliveriusová, J Sokolová, E Kraus, C Vlcek, R de Franchis, K N Maclean, L Bao, Bukovsk, D Patterson, V Paces, W Ansorge, V Kozic. The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. Genomics. vol 52. issue 3. 1998-12-07. PMID:9790750. |
cystathionine beta-synthase [cbs; l-serine hydro-lyase (adding homocysteine), ec 4.2.1.22] catalyzes the first committed step of transsulfuration and is the enzyme deficient in classical homocystinuria. |
1998-12-07 |
2023-08-12 |
human |
| R De Franchis, M P Sperandeo, G Sebastio, G Andri. Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria. European journal of pediatrics. vol 157 Suppl 2. 1998-07-14. PMID:9587029. |
homocystinuria due to cystathionine beta-synthase (cbs) deficiency is an autosomal recessive disease of sulphur amino acid metabolism. |
1998-07-14 |
2023-08-12 |
Not clear |
| H Gerdin. Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency. European journal of pediatrics. vol 157 Suppl 2. 1998-07-14. PMID:9587034. |
the ocular findings in patients with homocystinuria due to cystathionine-beta-synthetase (cbs) deficiency are reviewed and a new approach to lens surgery is presented. |
1998-07-14 |
2023-08-12 |
Not clear |
| X Shan, W D Kruge. Correction of disease-causing CBS mutations in yeast. Nature genetics. vol 19. issue 1. 1998-05-29. PMID:9590298. |
mutations in cystathionine beta-synthase (cbs) are known to cause homocystinuria, a recessive disorder characterized by excessive levels of total homocysteine (thcy) in plasma. |
1998-05-29 |
2023-08-12 |
Not clear |
| J M Boutell, J D Wood, P S Harper, A L Jone. Huntingtin interacts with cystathionine beta-synthase. Human molecular genetics. vol 7. issue 3. 1998-04-16. PMID:9466992. |
cbs deficiency is associated with homocystinuria, which is known to affect various physiological systems, including the central nervous system. |
1998-04-16 |
2023-08-12 |
human |
| J M Boutell, J D Wood, P S Harper, A L Jone. Huntingtin interacts with cystathionine beta-synthase. Human molecular genetics. vol 7. issue 3. 1998-04-16. PMID:9466992. |
homocysteine, one of the substrates of cbs, is known to accumulate in homocystinuria and is metabolized to homocysteate and homocysteine sulphinate, both known to be powerful excitotoxic amino acids. |
1998-04-16 |
2023-08-12 |
human |
| L A Kluijtmans, G H Boers, B Verbruggen, F J Trijbels, I R Novakova, H J Blo. Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis. Blood. vol 91. issue 6. 1998-04-09. PMID:9490685. |
we studied 24 patients with homocystinuria caused by homozygous cbs deficiency from 18 unrelated kindreds for fvl and for the 677c-->t mutation in the methylenetetrahydrofolate reductase (mthfr) gene and investigated their possible interaction in the risk of venous thrombosis. |
1998-04-09 |
2023-08-12 |
Not clear |
| L Bao, C Vlcek, V Paces, J P Krau. Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms. Archives of biochemistry and biophysics. vol 350. issue 1. 1998-03-06. PMID:9466825. |
cbs deficiency not only is the leading cause of homocystinuria, an inherited genetic disorder, but may contribute to cardiovascular disease as well. |
1998-03-06 |
2023-08-12 |
human |
| V Kozich, M Janosík, J Sokolová, J Oliveriusová, M Orendác, J P Kraus, D Ellede. Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99. Journal of inherited metabolic disease. vol 20. issue 3. 1997-11-28. PMID:9266356. |
analysis of cbs alleles in czech and slovak patients with homocystinuria: report on three novel mutations e176k, w409x and 1223 + 37 del99. |
1997-11-28 |
2023-08-12 |
Not clear |
| b' J Borota, M Milosevi\\xc4\\x87-Tosi\\xc4\\x87, D Katani\\xc4\\x8. [Homocystinuria--biochemical, clinical and genetic aspects]. Medicinski pregled. vol 50. issue 5-6. 1997-09-16. PMID:9297049.' |
homocystinuria is most commonly caused by deficiency of cystathionine beta-synthase (cbs) activity (ec 4.2.1.22). |
1997-09-16 |
2023-08-12 |
Not clear |
| M Y Tsai, P W Wong, U Garg, N Q Hanson, K Schwichtenber. Identification of a splice site mutation in the cystathionine beta-synthase gene resulting in variable and novel splicing defects of pre-mRNA. Biochemical and molecular medicine. vol 61. issue 1. 1997-08-28. PMID:9232191. |
we used single-strand conformational polymorphism and direct nucleotide sequencing to identify a novel mutation in the cystathionine beta-synthase (cbs) gene of two siblings with homocystinuria. |
1997-08-28 |
2023-08-12 |
Not clear |
| P A Dawson, A J Cox, B T Emmerson, N P Dudman, J P Kraus, R B Gordo. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. European journal of human genetics : EJHG. vol 5. issue 1. 1997-07-22. PMID:9156316. |
homocystinuria, due to a deficiency of the enzyme cystathionine beta-synthase (cbs), is an inborn error of sulphur-amino acid metabolism. |
1997-07-22 |
2023-08-12 |
Not clear |
| P A Dawson, A J Cox, B T Emmerson, N P Dudman, J P Kraus, R B Gordo. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. European journal of human genetics : EJHG. vol 5. issue 1. 1997-07-22. PMID:9156316. |
we report the identification of 5 missense mutations in the protein-coding region of the cbs gene from 3 patients with pyridoxine-nonresponsive homocystinuria. |
1997-07-22 |
2023-08-12 |
Not clear |