308 related articles for article (PubMed ID: 9361025)
1. Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Kim CE; Gallagher PM; Guttormsen AB; Refsum H; Ueland PM; Ose L; Folling I; Whitehead AS; Tsai MY; Kruger WD
Hum Mol Genet; 1997 Dec; 6(13):2213-21. PubMed ID: 9361025
[TBL] [Abstract][Full Text] [Related]
2. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Hu FL; Gu Z; Kozich V; Kraus JP; Ramesh V; Shih VE
Hum Mol Genet; 1993 Nov; 2(11):1857-60. PubMed ID: 7506602
[TBL] [Abstract][Full Text] [Related]
3. The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.
Gupta S; Wang L; Kruger WD
Hum Mutat; 2017 Jul; 38(7):863-869. PubMed ID: 28488385
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Gaustadnes M; Wilcken B; Oliveriusova J; McGill J; Fletcher J; Kraus JP; Wilcken DE
Hum Mutat; 2002 Aug; 20(2):117-26. PubMed ID: 12124992
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
Shih VE; Fringer JM; Mandell R; Kraus JP; Berry GT; Heidenreich RA; Korson MS; Levy HL; Ramesh V
Am J Hum Genet; 1995 Jul; 57(1):34-9. PubMed ID: 7611293
[TBL] [Abstract][Full Text] [Related]
8. CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S; Sperb-Ludwig F; Borsatto T; Weber Hoss G; Doriqui MJR; Embiruçu EK; Boa-Sorte N; Marques C; Kim CA; Fischinger Moura de Souza C; Rocha H; Ribeiro M; Steiner CE; Moreno CA; Bernardi P; Valadares E; Artigalas O; Carvalho G; Wanderley HYC; Kugele J; Walter M; Gallego-Villar L; Blom HJ; Schwartz IVD
Mol Genet Genomic Med; 2018 Mar; 6(2):160-170. PubMed ID: 29352562
[TBL] [Abstract][Full Text] [Related]
9. Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
Chen X; Wang L; Fazlieva R; Kruger WD
Hum Mutat; 2006 May; 27(5):474-82. PubMed ID: 16619244
[TBL] [Abstract][Full Text] [Related]
10. Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP; Janosík M; Kozich V; Mandell R; Shih V; Sperandeo MP; Sebastio G; de Franchis R; Andria G; Kluijtmans LA; Blom H; Boers GH; Gordon RB; Kamoun P; Tsai MY; Kruger WD; Koch HG; Ohura T; Gaustadnes M
Hum Mutat; 1999; 13(5):362-75. PubMed ID: 10338090
[TBL] [Abstract][Full Text] [Related]
11. CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
Kwok JS; Fung SL; Lui GC; Law EL; Chan MH; Leung CB; Tang NL
Pathology; 2011 Jan; 43(1):81-3. PubMed ID: 21240075
[No Abstract] [Full Text] [Related]
12. Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.
Guttormsen AB; Ueland PM; Kruger WD; Kim CE; Ose L; Følling I; Refsum H
Am J Med Genet; 2001 May; 100(3):204-13. PubMed ID: 11343305
[TBL] [Abstract][Full Text] [Related]
13. Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Kruger WD; Wang L; Jhee KH; Singh RH; Elsas LJ
Hum Mutat; 2003 Dec; 22(6):434-41. PubMed ID: 14635102
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
Dawson PA; Cox AJ; Emmerson BT; Dudman NP; Kraus JP; Gordon RB
Eur J Hum Genet; 1997; 5(1):15-21. PubMed ID: 9156316
[TBL] [Abstract][Full Text] [Related]
16. Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Dawson PA; Cochran DA; Emmerson BT; Kraus JP; Dudman NP; Gordon RB
Aust N Z J Med; 1996 Apr; 26(2):180-5. PubMed ID: 8744616
[TBL] [Abstract][Full Text] [Related]
17. The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
Sebastio G; Sperandeo MP; Panico M; de Franchis R; Kraus JP; Andria G
Am J Hum Genet; 1995 Jun; 56(6):1324-33. PubMed ID: 7762555
[TBL] [Abstract][Full Text] [Related]
18. Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
Silao CL; Fabella TD; Rama KI; Estrada SC
Pediatr Int; 2015 Oct; 57(5):884-7. PubMed ID: 25939784
[TBL] [Abstract][Full Text] [Related]
19. A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Kruger WD; Cox DR
Hum Mol Genet; 1995 Jul; 4(7):1155-61. PubMed ID: 8528202
[TBL] [Abstract][Full Text] [Related]
20. Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Marble M; Geraghty MT; de Franchis R; Kraus JP; Valle D
Hum Mol Genet; 1994 Oct; 3(10):1883-6. PubMed ID: 7849717
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]