565 related articles for article (PubMed ID: 10338090)
21. 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]
22. 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]
23. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
Bermúdez M; Frank N; Bernal J; Urreizti R; Briceño I; Merinero B; Perez-Cerdá C; Ugarte M; Grinberg D; Balcells S; Kraus JP
Hum Mutat; 2006 Mar; 27(3):296. PubMed ID: 16470595
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.
Aral B; Coudé M; London J; Aupetit J; Chassé JF; Zabot MT; Chadefaux-Vekemans B; Kamoun P
Hum Mutat; 1997; 9(1):81-2. PubMed ID: 8990018
[No Abstract] [Full Text] [Related]
27. 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]
28. 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]
29. Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
Gallagher PM; Naughten E; Hanson NQ; Schwichtenberg K; Bignell M; Yuan M; Ward P; Yap S; Whitehead AS; Tsai MY
Mol Genet Metab; 1998 Dec; 65(4):298-302. PubMed ID: 9889017
[TBL] [Abstract][Full Text] [Related]
30. [A case report of pyridoxine-responsive homocystinuria].
Milosević-Tosić M; Borota J; Katanić D; Vlaski J
Med Pregl; 1999; 52(11-12):501-4. PubMed ID: 10748775
[TBL] [Abstract][Full Text] [Related]
31. Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Cozar M; Urreizti R; Vilarinho L; Grosso C; Dodelson de Kremer R; Asteggiano CG; Dalmau J; García AM; Vilaseca MA; Grinberg D; Balcells S
Hum Mutat; 2011 Jul; 32(7):835-42. PubMed ID: 21520339
[TBL] [Abstract][Full Text] [Related]
32. Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.
Alberto JM; Hamelet J; Noll C; Blaise S; Bronowicki JP; Guéant JL; Delabar JM; Janel N
Mol Genet Metab; 2007 Aug; 91(4):396-8. PubMed ID: 17562377
[TBL] [Abstract][Full Text] [Related]
33. Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
Tsai MY; Wong PW; Garg U; Hanson NQ; Schwichtenberg K
Mol Diagn; 1997 Jun; 2(2):129-133. PubMed ID: 10462600
[TBL] [Abstract][Full Text] [Related]
34. The effect of dietary modulation of sulfur amino acids on cystathionine β synthase-deficient mice.
Kruger WD; Gupta S
Ann N Y Acad Sci; 2016 Jan; 1363(1):80-90. PubMed ID: 26599618
[TBL] [Abstract][Full Text] [Related]
35. 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.
Kluijtmans LA; Boers GH; Kraus JP; van den Heuvel LP; Cruysberg JR; Trijbels FJ; Blom HJ
Am J Hum Genet; 1999 Jul; 65(1):59-67. PubMed ID: 10364517
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
Eur J Pediatr; 1998 Apr; 157 Suppl 2():S50-3. PubMed ID: 9587026
[TBL] [Abstract][Full Text] [Related]
38. Linkage disequilibrium at the cystathionine beta synthase (CBS) locus and the association between genetic variation at the CBS locus and plasma levels of homocysteine. The Ears II Group. European Atherosclerosis Research Study.
De Stefano V; Dekou V; Nicaud V; Chasse JF; London J; Stansbie D; Humphries SE; Gudnason V
Ann Hum Genet; 1998 Nov; 62(Pt 6):481-90. PubMed ID: 10363126
[TBL] [Abstract][Full Text] [Related]
39. The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
Linnebank M; Janosik M; Kozich V; Pronicka E; Kubalska J; Sokolova J; Linnebank A; Schmidt E; Leyendecker C; Klockgether T; Kraus JP; Koch HG
Hum Mutat; 2004 Oct; 24(4):352-3. PubMed ID: 15365998
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
