102 related articles for article (PubMed ID: 1385957)
1. Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Nordström M; Kjellström T
Atherosclerosis; 1992 Jun; 94(2-3):213-21. PubMed ID: 1385957
[TBL] [Abstract][Full Text] [Related]
2. Age and cystathionine beta-synthase activity in cultured fibroblasts from patients with arterial and venous vascular disease.
Nordström M; Kjellström T
Atherosclerosis; 1998 Aug; 139(2):231-6. PubMed ID: 9712328
[TBL] [Abstract][Full Text] [Related]
3. Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.
Boers GH; Fowler B; Smals AG; Trijbels FJ; Leermakers AI; Kleijer WJ; Kloppenborg PW
Hum Genet; 1985; 69(2):164-9. PubMed ID: 3972418
[TBL] [Abstract][Full Text] [Related]
4. Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria.
Tsai MY; Garg U; Key NS; Hanson NQ; Suh A; Schwichtenberg K
Atherosclerosis; 1996 Apr; 122(1):69-77. PubMed ID: 8724113
[TBL] [Abstract][Full Text] [Related]
5. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Maclean KN; Gaustadnes M; Oliveriusová J; Janosík M; Kraus E; Kozich V; Kery V; Skovby F; Rüdiger N; Ingerslev J; Stabler SP; Allen RH; Kraus JP
Hum Mutat; 2002 Jun; 19(6):641-55. PubMed ID: 12007221
[TBL] [Abstract][Full Text] [Related]
6. A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.
Smith DE; Mendes MI; Kluijtmans LA; Janssen MC; Smulders YM; Blom HJ
J Chromatogr B Analyt Technol Biomed Life Sci; 2012 Dec; 911():186-91. PubMed ID: 23217323
[TBL] [Abstract][Full Text] [Related]
7. Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.
Bittles AH; Carson NA
J Inherit Metab Dis; 1981; 4(1):3-6. PubMed ID: 6785521
[TBL] [Abstract][Full Text] [Related]
8. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
Kluijtmans LA; Boers GH; Stevens EM; Renier WO; Kraus JP; Trijbels FJ; van den Heuvel LP; Blom HJ
J Clin Invest; 1996 Jul; 98(2):285-9. PubMed ID: 8755636
[TBL] [Abstract][Full Text] [Related]
9. Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Wang L; Chen X; Tang B; Hua X; Klein-Szanto A; Kruger WD
Hum Mol Genet; 2005 Aug; 14(15):2201-8. PubMed ID: 15972722
[TBL] [Abstract][Full Text] [Related]
10. Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Reish O; Townsend D; Berry SA; Tsai MY; King RA
Am J Hum Genet; 1995 Jul; 57(1):127-32. PubMed ID: 7611281
[TBL] [Abstract][Full Text] [Related]
11. Cystathionine beta-synthase is enriched in the brains of Down's patients.
Ichinohe A; Kanaumi T; Takashima S; Enokido Y; Nagai Y; Kimura H
Biochem Biophys Res Commun; 2005 Dec; 338(3):1547-50. PubMed ID: 16274669
[TBL] [Abstract][Full Text] [Related]
12. Thioethers as markers of hydrogen sulfide production in homocystinurias.
Kožich V; Krijt J; Sokolová J; Melenovská P; Ješina P; Vozdek R; Majtán T; Kraus JP
Biochimie; 2016 Jul; 126():14-20. PubMed ID: 26791043
[TBL] [Abstract][Full Text] [Related]
13. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.
Lu YH; Cheng LM; Huang YH; Lo MY; Wu TJ; Lin HY; Hsu TR; Niu DM
Clin Nutr; 2015 Dec; 34(6):1155-8. PubMed ID: 25516282
[TBL] [Abstract][Full Text] [Related]
14. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
de Franchis R; Kozich V; McInnes RR; Kraus JP
Hum Mol Genet; 1994 Jul; 3(7):1103-8. PubMed ID: 7981678
[TBL] [Abstract][Full Text] [Related]
15. Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
Kelly PJ; Furie KL; Kistler JP; Barron M; Picard EH; Mandell R; Shih VE
Neurology; 2003 Jan; 60(2):275-9. PubMed ID: 12552044
[TBL] [Abstract][Full Text] [Related]
16. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Karaca M; Hismi B; Ozgul RK; Karaca S; Yilmaz DY; Coskun T; Sivri HS; Tokatli A; Dursun A
Gene; 2014 Jan; 534(2):197-203. PubMed ID: 24211323
[TBL] [Abstract][Full Text] [Related]
17. A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.
Lievers KJ; Kluijtmans LA; Heil SG; Boers GH; Verhoef P; van Oppenraay-Emmerzaal D; den Heijer M; Trijbels FJ; Blom HJ
Eur J Hum Genet; 2001 Aug; 9(8):583-9. PubMed ID: 11528503
[TBL] [Abstract][Full Text] [Related]
18. Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria.
Park ES; Oh HJ; Kruger WD; Jung SC; Lee JS
Exp Mol Med; 2006 Dec; 38(6):652-61. PubMed ID: 17202841
[TBL] [Abstract][Full Text] [Related]
19. Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes.
McGill JJ; Mettler G; Rosenblatt DS; Scriver CR
Am J Med Genet; 1990 May; 36(1):45-52. PubMed ID: 2185635
[TBL] [Abstract][Full Text] [Related]
20. Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia.
Watanabe M; Osada J; Aratani Y; Kluckman K; Reddick R; Malinow MR; Maeda N
Proc Natl Acad Sci U S A; 1995 Feb; 92(5):1585-9. PubMed ID: 7878023
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]