| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| M Y Tsai, N Q Hanson, M K Bignell, K A Schwichtenber. Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism. Clinical biochemistry. vol 29. issue 5. 1997-03-24. PMID:8884070. |
we used single-strand conformational polymorphism (sscp) to screen for mutations at nucleotides 833 and 919 of the cystathionine beta-synthase (cbs) gene in 13 patients with homocystinuria and 11 of their relatives. |
1997-03-24 |
2023-08-12 |
Not clear |
| M Y Tsai, M Bignell, K Schwichtenberg, N Q Hanso. High prevalence of a mutation in the cystathionine beta-synthase gene. American journal of human genetics. vol 59. issue 6. 1997-01-14. PMID:8940271. |
we found that a mutation previously described by sebastio et al., involving a 68-bp insertion in the coding region of exon 8 of the cystathionine-beta-synthase (cbs) gene in a single patient with homocystinuria, is highly prevalent. |
1997-01-14 |
2023-08-12 |
Not clear |
| M Y Tsai, U Garg, N S Key, N Q Hanson, A Suh, K Schwichtenber. Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria. Atherosclerosis. vol 122. issue 1. 1996-12-05. PMID:8724113. |
eleven relatives of seven unrelated patients with homocystinuria due to homozygous cbs deficiency and controls were studied with respect to total homocysteine concentrations before and after methionine loading. |
1996-12-05 |
2023-08-12 |
Not clear |
| P A Dawson, D A Cochran, B T Emmerson, J P Kraus, N P Dudman, R B Gordo. Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase. Australian and New Zealand journal of medicine. vol 26. issue 2. 1996-10-09. PMID:8744616. |
a deficiency of cystathionine beta-synthase (cbs) activity is the most frequent cause of homocystinuria, an autosomal recessive disease with multiple clinical manifestations. |
1996-10-09 |
2023-08-12 |
Not clear |
| P A Dawson, D A Cochran, B T Emmerson, J P Kraus, N P Dudman, R B Gordo. Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase. Australian and New Zealand journal of medicine. vol 26. issue 2. 1996-10-09. PMID:8744616. |
mutations in the cbs gene have been reported in several patients with homocystinuria. |
1996-10-09 |
2023-08-12 |
Not clear |
| L A Kluijtmans, G H Boers, E M Stevens, W O Renier, J P Kraus, F J Trijbels, L P van den Heuvel, H J Blo. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. The Journal of clinical investigation. vol 98. issue 2. 1996-09-23. PMID:8755636. |
we determined the molecular basis of cystathionine beta-synthase (cbs) deficiency in a partially pyridoxine-responsive homocystinuria patient. |
1996-09-23 |
2023-08-12 |
Not clear |
| W D Kruger, D R Co. A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. Human molecular genetics. vol 4. issue 7. 1996-01-26. PMID:8528202. |
mutations in the human cystathionine beta-synthase (cbs) gene are known to cause homocystinuria and may also be a significant risk factor for premature atherosclerosis. |
1996-01-26 |
2023-08-12 |
human |
| V E Shih, J M Fringer, R Mandell, J P Kraus, G T Berry, R A Heidenreich, M S Korson, H L Levy, V Rames. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. American journal of human genetics. vol 57. issue 1. 1995-08-15. PMID:7611293. |
cystathionine beta-synthase (cbs) deficiency is an autosomal recessive disorder characterized by homocystinuria and multisystem clinical disease. |
1995-08-15 |
2023-08-12 |
Not clear |
| G Sebastio, M P Sperandeo, M Panico, R de Franchis, J P Kraus, G Andri. The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. American journal of human genetics. vol 56. issue 6. 1995-06-28. PMID:7762555. |
four new mutations in the cystathionine beta-synthase (cbs) gene have been identified in italian patients with homocystinuria. |
1995-06-28 |
2023-08-12 |
Not clear |
| R de Franchis, V Kozich, R R McInnes, J P Krau. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. Human molecular genetics. vol 3. issue 7. 1995-01-05. PMID:7981678. |
we determined the molecular basis of cystathionine beta-synthase (cbs) deficiency in three siblings with pyridoxine responsive homocystinuria using a significantly improved mutation screening method in bacteria. |
1995-01-05 |
2023-08-12 |
Not clear |
| R de Franchis, V Kozich, R R McInnes, J P Krau. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. Human molecular genetics. vol 3. issue 7. 1995-01-05. PMID:7981678. |
the mother, an obligate heterozygote, was free from all signs of homocystinuria; nonetheless, extracts of her fibroblasts were devoid of cbs protein and activity. |
1995-01-05 |
2023-08-12 |
Not clear |
| R de Franchis, V Kozich, R R McInnes, J P Krau. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. Human molecular genetics. vol 3. issue 7. 1995-01-05. PMID:7981678. |
we conclude that fibroblast levels of cbs are only partially effective as prognosticators of disease severity and that it is important to test the in vivo response to vitamin b6 in all cases of homocystinuria, including those in which the mutations lead to the absence of the enzyme in cultured fibroblasts. |
1995-01-05 |
2023-08-12 |
Not clear |
| J P Krau. Komrower Lecture. Molecular basis of phenotype expression in homocystinuria. Journal of inherited metabolic disease. vol 17. issue 4. 1994-12-28. PMID:7967489. |
cystathionine beta-synthase (cbs) deficiency is the most common cause of homocystinuria in humans. |
1994-12-28 |
2023-08-12 |
human |
| J P Kraus, K Le, M Swaroop, T Ohura, T Tahara, L E Rosenberg, M D Roper, V Kozic. Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells. Human molecular genetics. vol 2. issue 10. 1994-02-03. PMID:7903580. |
cystathionine beta-synthase (cbs) deficiency is the major cause of homocystinuria in humans. |
1994-02-03 |
2023-08-12 |
human |
| V Kozich, J P Krau. Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Human mutation. vol 1. issue 2. 1993-06-01. PMID:1301198. |
deficiency of cystathionine beta-synthase (cbs) causes the most common form of inherited homocystinuria. |
1993-06-01 |
2023-08-11 |
human |
| P Rubba, F Faccenda, P Pauciullo, L Carbone, M Mancini, P Strisciuglio, R Carrozzo, R Sartorio, E del Giudice, G Andri. Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency. Metabolism: clinical and experimental. vol 39. issue 11. 1990-12-04. PMID:2233281. |
fourteen patients (six males, eight females; mean age, 20 years) with homocystinuria due to homozygous cystathionine-beta-synthase (cbs) deficiency, underwent a vascular examination. |
1990-12-04 |
2023-08-11 |
Not clear |
| L Brattström, B Israelsson, B Norrving, D Bergqvist, J Thörne, B Hultberg, A Hamfel. Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease. Effects of pyridoxine and folic acid treatment. Atherosclerosis. vol 81. issue 1. 1990-03-28. PMID:2407253. |
twenty patients (28%) had basal homocysteinemia; and 26 patients (36%) had abnormal increases of plasma homocysteine after peroral methionine loading, which exceeded the highest value for 46 comparable controls and was within the range for 20 obligate heterozygotes for homocystinuria due to cbs deficiency. |
1990-03-28 |
2023-08-11 |
Not clear |
| M Münke, J P Kraus, T Ohura, U Franck. The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. American journal of human genetics. vol 42. issue 4. 1988-04-20. PMID:2894761. |
the human gene for cystathionine beta-synthase (cbs), the enzyme deficient in classical homocystinuria, has been assigned to the subtelomeric region of band 21q22.3 by in situ hybridization of a rat cdna probe to structurally rearranged chromosomes 21. |
1988-04-20 |
2023-08-11 |
mouse |
| F Skovby, N Krassikoff, U Franck. Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids. Human genetics. vol 65. issue 3. 1984-03-30. PMID:6583157. |
because the activities measured could represent either chinese hamster or human gene products, we have prepared a new series of hybrids between don/a23tk- cells and mutant human fibroblasts from a patient with homocystinuria due to deficiency of functional cbs mrna. |
1984-03-30 |
2023-08-12 |
mouse |
| F Skovby, N Krassikoff, U Franck. Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids. Human genetics. vol 65. issue 3. 1984-03-30. PMID:6583157. |
our results suggest that the human gene for cbs, called cbs, and thus for the most common form of homocystinuria, is located on chromosome 21. |
1984-03-30 |
2023-08-12 |
mouse |