| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sook-Jin Lee, Dong Hwan Lee, Han-Wook Yoo, Soo Kyung Koo, Eun-Sook Park, Joo-Won Park, Hun Gil Lim, Sung-Chul Jun. Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. Journal of human genetics. vol 50. issue 12. 2006-02-23. PMID:16205833. |
mutation analysis of the cbs gene in six korean patients with homocystinuria was performed by direct sequencing. |
2006-02-23 |
2023-08-12 |
Not clear |
| Marianna P R Porto, Luciano C Galdieri, Vanessa G Pereira, Naja Vergani, José Cláudio C da Rocha, Cecília Micheletti, Ana Maria Martins, Ana Beatriz A Perez, Vânia D Almeid. Molecular analysis of homocystinuria in Brazilian patients. Clinica chimica acta; international journal of clinical chemistry. vol 362. issue 1-2. 2006-01-24. PMID:15993874. |
cystathionine beta-synthase (cbs) deficiency is the most common cause of homocystinuria. |
2006-01-24 |
2023-08-12 |
Not clear |
| Akiko Ichinohe, Takeshi Kanaumi, Sachio Takashima, Yasushi Enokido, Yasuo Nagai, Hideo Kimur. Cystathionine beta-synthase is enriched in the brains of Down's patients. Biochemical and biophysical research communications. vol 338. issue 3. 2006-01-06. PMID:16274669. |
cystathionine beta-synthase (cbs) is encoded on chromosome 21 and deficiency in its activity causes homocystinuria, the most common inborn error of sulfur amino acid metabolism and characterized by mental retardation and vascular disease. |
2006-01-06 |
2023-08-12 |
Not clear |
| Kwang-Hwan Jhee, Warren D Kruge. The role of cystathionine beta-synthase in homocysteine metabolism. Antioxidants & redox signaling. vol 7. issue 5-6. 2005-09-27. PMID:15890029. |
mutations in human cbs result in homocystinuria, an autosomal recessive disorder characterized by defects in a variety of different organ systems. |
2005-09-27 |
2023-08-12 |
human |
| Kwang-Hwan Jhee, Warren D Kruge. The role of cystathionine beta-synthase in homocysteine metabolism. Antioxidants & redox signaling. vol 7. issue 5-6. 2005-09-27. PMID:15890029. |
the most common cbs allele is 833t>c (i278t), which is associated with pyridoxine-responsive homocystinuria. |
2005-09-27 |
2023-08-12 |
human |
| Michael Linnebank, Miroslav Janosik, Viktor Kozich, Ewa Pronicka, Jolanta Kubalska, Jitka Sokolova, Anja Linnebank, Eva Schmidt, Christina Leyendecker, Thomas Klockgether, Jan Peter Kraus, Hans Georg Koc. The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. Human mutation. vol 24. issue 4. 2005-03-31. PMID:15365998. |
in homocystinuria due to cystathionine beta-synthase (cbs) deficiency, vitamin b6 response has been linked to distinct mutations and ruled out for others. |
2005-03-31 |
2023-08-12 |
Not clear |
| Marek Orendáè, Ewa Pronicka, Jolanta Kubalska, Miroslav Janosik, Jitka Sokolová, Michael Linnebank, Hans Georg Koch, Viktor Kozic. Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. Human mutation. vol 23. issue 6. 2004-09-24. PMID:15146473. |
identification and functional analysis of two novel mutations in the cbs gene in polish patients with homocystinuria. |
2004-09-24 |
2023-08-12 |
Not clear |
| Marek Orendáè, Ewa Pronicka, Jolanta Kubalska, Miroslav Janosik, Jitka Sokolová, Michael Linnebank, Hans Georg Koch, Viktor Kozic. Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. Human mutation. vol 23. issue 6. 2004-09-24. PMID:15146473. |
homocystinuria due to cystathionine beta-synthase (cbs) deficiency is an inherited disorder of homocysteine transsulfuration, which manifests by neurological, vascular and connective tissue involvement. |
2004-09-24 |
2023-08-12 |
Not clear |
| M Linnebank, R Junker, D G Nabavi, A Linnebank, H G Koc. Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T). Journal of inherited metabolic disease. vol 26. issue 5. 2004-04-30. PMID:14518832. |
hereditary homocystinuria due to cystathionine beta-synthase (cbs) deficiency is a rare disease (about 1:20000 in germany) often complicated by thromboembolism. |
2004-04-30 |
2023-08-12 |
Not clear |
| M Linnebank, R Junker, D G Nabavi, A Linnebank, H G Koc. Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T). Journal of inherited metabolic disease. vol 26. issue 5. 2004-04-30. PMID:14518832. |
single mutations, which affect the c-terminal region of the cbs enzyme, lead to isolated thrombosis without further symptoms typical for homocystinuria such as atherosclerosis, psychomotor retardation, and dislocation of the ocular lenses. |
2004-04-30 |
2023-08-12 |
Not clear |
| M Linnebank, R Junker, D G Nabavi, A Linnebank, H G Koc. Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T). Journal of inherited metabolic disease. vol 26. issue 5. 2004-04-30. PMID:14518832. |
in this study, dna samples of patients with stroke (n = 225) and sinus thrombosis (n = 46) were screened for the most common homocystinuria mutation, cbs 1278t. |
2004-04-30 |
2023-08-12 |
Not clear |
| M Linnebank, R Junker, D G Nabavi, A Linnebank, H G Koc. Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T). Journal of inherited metabolic disease. vol 26. issue 5. 2004-04-30. PMID:14518832. |
thus, not only c-terminal mutations but also the most common mutation in classical homocystinuria, cbs 1278t, can lead to isolated thrombophilic events. |
2004-04-30 |
2023-08-12 |
Not clear |
| M-D Tur, E De Maistre, P Franck, M-O Rolland, S Fremont, T Lecompte, M Vidailhe. [Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase]. La Revue de medecine interne. vol 25. issue 2. 2004-03-09. PMID:14744647. |
homocystinuria due to cystathionine beta synthase (cbs) deficiency is a special type of hyperhomocysteinemia because of its clinical expression (thrombotic events, ectopic lens and mental retardation). |
2004-03-09 |
2023-08-12 |
Not clear |
| Stuart J Moat, Liming Bao, Brian Fowler, James R Bonham, John H Walter, Jan P Krau. The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. Human mutation. vol 23. issue 2. 2004-03-08. PMID:14722927. |
the molecular basis of cystathionine beta-synthase (cbs) deficiency in uk and us patients with homocystinuria. |
2004-03-08 |
2023-08-12 |
Not clear |
| W D Kruger, L Wang, K H Jhee, R H Singh, L J Elsa. Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. Human mutation. vol 22. issue 6. 2004-01-26. PMID:14635102. |
cystathionine beta-synthase (cbs) deficiency is a rare autosomal recessive disorder that is the most frequent cause of clinical homocystinuria. |
2004-01-26 |
2023-08-12 |
Not clear |
| Karine Robert, Jean-François Chassé, Dominique Santiard-Baron, Catherine Vayssettes, Allel Chabli, Joelle Aupetit, Nobuyo Maeda, Pierre Kamoun, Jacqueline London, Nathalie Jane. Altered gene expression in liver from a murine model of hyperhomocysteinemia. The Journal of biological chemistry. vol 278. issue 34. 2003-10-29. PMID:12799373. |
cystathionine beta-synthase (cbs) deficiency causes severe hyperhomocysteinemia and other signs of homocystinuria syndrome, in particular a premature atherosclerosis with multiple thrombosis. |
2003-10-29 |
2023-08-12 |
mouse |
| S Z Kim, E Santamaria, T E Jeong, H L Levy, J M Mato, F J Corrales, S H Mud. Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation. Journal of inherited metabolic disease. vol 25. issue 8. 2003-10-21. PMID:12705496. |
plasma total homocysteine (thcy) is mildly elevated, but not so markedly as to establish a diagnosis of homocystinuria due to cystathionine beta-synthase (cbs) deficiency. |
2003-10-21 |
2023-08-12 |
Not clear |
| Roser Urreizti, Susana Balcells, Marga Rodés, Laura Vilarinho, Antonio Baldellou, María Luz Couce, Carmen Muñoz, Jaume Campistol, Xavier Pintó, María Antonia Vilaseca, Daniel Grinber. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. Human mutation. vol 22. issue 1. 2003-08-11. PMID:12815602. |
homocystinuria due to cystathionine beta-synthase (cbs) deficiency has been extensively studied, but to date, no spectrum of cbs mutations of spanish homocystinuric patients has been reported. |
2003-08-11 |
2023-08-12 |
Not clear |
| Priscilla G Massé, Adele L Boskey, Israel Ziv, Peter Hauschka, Sharon M Donovan, David S Howell, David E C Col. Chemical and biomechanical characterization of hyperhomocysteinemic bone disease in an animal model. BMC musculoskeletal disorders. vol 4. 2003-07-25. PMID:12597778. |
classical homocystinuria is an autosomal recessive disorder caused by cystathionine beta-synthase (cbs) deficiency and characterized by distinctive alterations of bone growth and skeletal development. |
2003-07-25 |
2023-08-12 |
Not clear |
| 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. |
deficiency of cbs leads to homocystinuria, an inherited disease of sulfur amino acid metabolism characterised by increased levels of homocysteine and methionine and decreased levels of cysteine. |
2003-06-05 |
2023-08-12 |
Not clear |