| 1 | BHMT, CBS
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| Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia.
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| Huang X, Li D, Zhao Q, Zhang C, Ren B, Yue L, Du B, Godfrey O, Wang X, Zhang W.
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| J Hum Genet 64(12):1227-1235. doi: 10.1038/s10038-019-0672-7. Epub 2019 Sep 27.
2019
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| 2 | CBS, CTH
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| The H2S-generating enzymes cystathionine β-synthase and cystathionine γ-lyase play a role in vascular development during normal lung alveolarization.
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| Madurga A, Golec A, Pozarska A, Ishii I, Mižíková I, Nardiello C, Vadász I, Herold S, Mayer K, Reichenberger F, Fehrenbach H, Seeger W, Morty RE.
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| Am J Physiol Lung Cell Mol Physiol 309(7):L710-24. doi: 10.1152/ajplung.00134.2015. Epub 2015 Jul 31.
2015
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| 3 | CBS, CTH
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| CBS and CSE are critical for maintenance of mitochondrial function and glucocorticoid production in adrenal cortex.
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| Wang CN, Liu YJ, Duan GL, Zhao W, Li XH, Zhu XY, Ni X.
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| Antioxid Redox Signal 21(16):2192-207. doi: 10.1089/ars.2013.5682. Epub 2014 May 27.
2014
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| 4 | CBS
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| Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.
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| Tilley MM, Northrup H, Au KS.
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| Birth Defects Res A Clin Mol Teratol 94(1):52-6. doi: 10.1002/bdra.22855. Epub 2011 Sep 28.
2012
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| 5 | CBS, CBSD
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| Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
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| Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg D, Balcells S.
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| Hum Mutat 32(7):835-42. doi: 10.1002/humu.21514. Epub 2011 Jun 7.
2011
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| 6 | CBS, CBSD
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| Cystathionine beta-synthase deficiency causes fat loss in mice.
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| Gupta S, Kruger WD.
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| PLoS One 6(11):e27598. Epub 2011 Nov 11.
2011
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| 7 | CBS
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| New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.
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| Martinelli M, Masiero E, Carinci F, Morselli PG, Pezzetti F, Scapoli L.
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| Eur J Oral Sci 119(3):193-7. doi: 10.1111/j.1600-0722.2011.00824.x. Epub 2011 May 5.
2011
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| 8 | CBS, ZDHHC17, ZDHHC3
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| Golgi-specific DHHC zinc finger protein GODZ mediates membrane Ca2+ transport.
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| Hines RM, Kang R, Goytain A, Quamme GA.
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| J Biol Chem 285(7):4621-8. Epub 2009 Dec 2. 2010
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| 9 | CBS, CBSD
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| Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
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| Kozich V, Sokolová J, Klatovská V, Krijt J, Janosík M, Jelínek K, Kraus JP.
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| Hum Mutat 31(7):809-19.
2010
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| 10 | CBS
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| Methionine-deficient diet induces post-transcriptional downregulation of cystathionine β-synthase.
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| Tang B, Mustafa A, Gupta S, Melnyk S, James SJ, Kruger WD.
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| Nutrition 26(11-12):1170-5. Epub 2009 Dec 29.
2010
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| 11 | CBS
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| Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.
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| Martinez CA, Northrup H, Lin JI, Morrison AC, Fletcher JM, Tyerman GH, Au KS.
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| Am J Obstet Gynecol 201(4):394.e1-11. Epub 2009 Aug 15.
2009
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| 12 | CBS
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| Ischemia-reperfusion reduces cystathionine-beta-synthase-mediated hydrogen sulfide generation in the kidney.
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| Xu Z, Prathapasinghe G, Wu N, Hwang SY, Siow YL, O K.
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| Am J Physiol Renal Physiol 297(1):F27-35. Epub 2009 May 13.
2009
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| 13 | CBS
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| Expression of cystathionine beta-synthase is downregulated in hepatocellular carcinoma and associated with poor prognosis.
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| Kim J, Hong SJ, Park JH, Park SY, Kim SW, Cho EY, Do IG, Joh JW, Kim DS.
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| Oncol Rep 21(6):1449-54.
2009
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| 14 | CBS, MTHFR, MTRR
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| Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: association with polymorphisms in the MTHFR and MTRR genes in Brazilian children.
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| Aléssio AC, Siqueira LH, Bydlowski SP, Höehr NF, Annichino-Bizzacchi JM.
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| Am J Med Genet A 146A(20):2598-602. 2008
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| 15 | CBS, DHFR
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| Polymorphisms of homocysteine metabolism are associated with intracranial aneurysms.
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| Semmler A, Linnebank M, Krex D, Götz A, Moskau S, Ziegler A, Simon M.
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| Cerebrovasc Dis 26(4):425-9. Epub 2008 Sep 18. 2008
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| 16 | CBS, CTH
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| Comparative localization of cystathionine beta-synthase and cystathionine gamma-lyase in retina: differences between amphibians and mammals.
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| Pong WW, Stouracova R, Frank N, Kraus JP, Eldred WD.
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| J Comp Neurol 505(2):158-65. 2007
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| 17 | CBS
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| Cystathionine beta synthase participates in murine oocyte maturation mediated by homocysteine.
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| Liang R, Yu WD, Du JB, Yang LJ, Yang JJ, Xu J, Shang M, Guo JZ.
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| Reprod Toxicol 24(1):89-96. Epub 2007 Apr 19.
2007
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| 18 | CBS
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| Chemical chaperone rescue of mutant human cystathionine beta-synthase.
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| Singh LR, Chen X, Kozich V, Kruger WD.
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| Mol Genet Metab 91(4):335-42. Epub 2007 May 30.
2007
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| 19 | CBS
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| Solvent-accessible cysteines in human cystathionine beta-synthase: crucial role of cysteine 431 in S-adenosyl-L-methionine binding.
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| Frank N, Kery V, Maclean KN, Kraus JP.
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| Biochemistry 45(36):11021-9. 2006
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| 20 | CBS
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| Cystathionine beta-synthase is essential for female reproductive function.
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| Guzmán MA, Navarro MA, Carnicer R, SarrĂa AJ, AcĂn S, Arnal C, Muniesa P, Surra JC, ArbonĂ©s-Mainar JM, Maeda N, Osada J.
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| Hum Mol Genet 15(21):3168-76. Epub 2006 Sep 19.
2006
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| 21 | CBS
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| Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate.
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| Rubini M, Brusati R, Garattini G, Magnani C, Liviero F, Bianchi F, Tarantino E, Massei A, Pollastri S, Carturan S, Amadori A, Bertagnin E, Cavallaro A, Fabiano A, Franchella A, Calzolari E.
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| Am J Med Genet A 136(4):368-72. 2005
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| 22 | CBS, CBSD
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| Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
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| Lee SJ, Lee DH, Yoo HW, Koo SK, Park ES, Park JW, Lim HG, Jung SC.
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| J Hum Genet 50(12):648-54. Epub 2005 Oct 5. 2005
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| 23 | CBS, CBSD
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| Mutations in the regulatory domain of cystathionine beta-synthase can functionally suppress patient-derived mutations in cis.
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| Shan X, Dunbrack Jr RL Jr, Christopher SA, Kruger WD.
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| Hum Mol Genet 10(6):635-43. 2001
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| 24 | CBS
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| Polymorphisms in the CBS gene associated with decreased risk of coronary artery disease and increased responsiveness to total homocysteine lowering by folic acid.
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| Kruger WD, Evans AA, Wang L, Malinow MR, Duell PB, Anderson PH, Block PC, Hess DL, Graf EE, Upson B.
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| Mol Genet Metab 70(1):53-60. 2000
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| 25 | CBS
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| Influence of 699C-->T and 1080C-->T polymorphisms of the cystathionine beta-synthase gene on plasma homocysteine levels.
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| Aras O, Hanson NQ, Yang F, Tsai MY.
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| Clin Genet 58(6):455-9. 2000
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| 26 | CBS, CBSD
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| 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.
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| Kluijtmans LA, et al.
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| Am J Hum Genet 65(1):59-67. 1999
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| 27 | CBS
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| Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionine beta-synthase gene, and pyridoxal-5'-phosphate concentration.
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| Tsai MY, et al.
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| Mol Genet Metab 67(4):352-6. 1999
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| 28 | CBS, MTHFR
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| Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.
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| Speer MC, et al.
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| Clin Genet 56(2):142-4 1999
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| 29 | CBS, F5TPH, MTHFR
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| Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
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| Kluijtmans LAJ, et al.
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| Blood 91 : 2015-2018. 1998
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| 30 | CBS
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| The human cystathionine beta-synthase (CBS) gene : complete sequence, alternative splicing, and polymorphisms.
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| Kraus JP, Oliveriusova J, Sokolova J, Kraus E, Vlcek C, de Franchis R, Maclean KN, Bao L, Bukovsk, Patterson D, Paces V, Ansorge W, Kozich V.
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| Genomics 52 : 312-324. 1998
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| 31 | BRCA1, CBS, MTHFR, MTR, NTDS1, T
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| Susceptibility to spina bifida : an association study of five candidate genes.
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| Morrison K, et al.
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| Ann Hum Genet 62 : 379-396. 1998
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| 32 | CBS, HTT
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| Huntingtin interacts with cystathionine beta-synthase.
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| Boutell JM, et al.
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| Hum Mol Genet 7(3):371-8. 1998
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| 33 | CBS
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| 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.
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| De Stefano V, et al.
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| Ann Hum Genet 62 (Pt 6):481-90. 1998
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| 34 | CBS
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| Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
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| Dawson PA, Cox AJ, Emmerson BT, Dudman NP, Kraus JP, Gordon RB.
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| Eur J Hum Genet 5(1):15-21. 1997
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| 35 | CBS
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| Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
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| Kozich V, Janosik M, Sokolova J, Oliveriusova J, Orendac M, Kraus JP, Elleder D.
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| J Inherit Metab Dis 20(3):363-6. 1997
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| 36 | CBS
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| Identification of a splice site mutation in the cystathionine beta-synthase gene resulting in variable and novel splicing defects of Pre-mRNA.
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| Tsai MY, Wong PW, Garg U, Hanson NQ, Schwichtenberg K.
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| Biochem Mol Med 61(1):9-15. 1997
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| 37 | CBS
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| Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
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| Kim CE, Gallagher PM, Guttormsen AB, Refsum H, Ueland PM, Ose L, Folling I, Whitehead AS, Tsai MY, Kruger WD.
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| Hum Mol Genet 6(13):2213-21. 1997
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| 38 | CBS
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| A common 844INS68 insertion variant in the cystathionine beta-synthase gene.
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| Kluijtmans LA, Boers GH, Trijbels FJ, van Lith-Zanders HM, van den Heuvel LP, Blom HJ.
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| Biochem Mol Med 62(1):23-5. 1997
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| 39 | CBS
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| Human cystathionine beta-synthase : gene organization and expression of different 5' alternative splicing.
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| Chasse JF, Paul V, Escanez R, Kamoun P, London J.
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| Mamm Genome 8(12):917-21. 1997
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| 40 | CBS
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| Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
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| Kluijtmans LAJ, et al.
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| J Clin Invest 98 : 285-289. 1996
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| 41 | CBS
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| High prevalence of a mutation in the cystathionine beta-synthase gene.
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| Tsai MY, et al.
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| Am J Hum Genet 59 : 1262-1267. 1996
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| 42 | CBS
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| A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.
|
| Sperandeo MP, et al.
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| Am J Hum Genet 59 : 1391-1393. 1996
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| 43 | CBS
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| Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency : report of a new mutation in exon 8 and a deletion in intron 11.
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| Sperandeo MP, et al.
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| J Inherit Metab Dis 18 : 211-214. 1995
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| 44 | CBS
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| The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
|
| Sebastio G, et al.
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| Am J Hum Genet 56 : 1324-1333. 1995
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| 45 | CBS
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| A missense mutation (1278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
|
| Shih VE, et al.
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| Am J Hum Genet 57 : 34-39. 1995
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| 46 | CBS
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| A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
|
| Kruger WD, et al.
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| Hum Mol Genet 4 : 1155-1161. 1995
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| 47 | CBS
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| Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.
|
| Kluijtmans LAJ, et al.
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| Hum Genet 96 : 249-250. 1995
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| 48 | CBS
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| High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.
|
| Gallagher PM, et al.
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| Hum Mutat 6 : 177-180. 1995
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| 49 | CBS
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| Genomic organization of the human cystathionine beta-synthase gene : evidence for various cDNAs.
|
| ChassŽ JF, et al.
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| Biochem Biophys Res Commun 211 : 826-832. 1995
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| 50 | CBS
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| 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, et al.
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| Hum Mol Genet 3 : 1103-1108. 1994
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| 51 | CBS
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| Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
|
| Marble M, et al.
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| Hum Mol Genet 3 : 1883-1886. 1994
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| 52 | CBS
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| Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
|
| Hu FL, et al.
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| Hum Mol Genet 2 : 1857-1860. 1993
|
| 53 | CBS
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| Molecular defect in a patient with pyridoxine-responsive homocystinuria.
|
| Kozich V, et al.
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| Hum Mol Genet 2 : 815-816. 1993
|
| 54 | CBS
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| Human cystathonine beta-synthase cDNA : sequence, alternative splicing and expression in cultured cells.
|
| Kraus JP, et al.
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| Hum Mol Genet 2 : 1633-1638. 1993
|
| 55 | CBS
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| Linkage mapping of the cystathione beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region.
|
| Avramopoulos D, et al.
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| Hum Genet 90 : 566-568. 1993
|
| 56 | CBS
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| Screening for mutations by expressing patient cDNA segments in E.coli : homocystinuria due to cystathionine beta-synthase deficiency.
|
| Kozich V, et al.
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| Hum Mutat 1 : 113-123. 1992
|
| 57 | CBS
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| Identification of a molecular genetic defect in homocystinuria due to cystathionine beta-synthase deficiency.
|
| Gu Z, et al.
|
| Am J Hum Genet 49S : 406. 1991
|
| 58 | CBS
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| Molecular analysis of cystathionine beta-synthase. A gene on chromosome 21.
|
| Kraus JP.
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| Prog Clin Biol Res 360 : 201-214. 1990
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| 59 | CBS
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| The gene for cystathionine §-synthase (CBS) maps to the subtelomeric region on human chromosome 21 q and to proximal mouse chromosome 17.
|
| Mźnke M, et al.
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| Am J Hum Genet 42 : 550-559. 1988
|
| 60 | CBS, PCCB
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| Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.
|
| Kraus JP, Williamson CL, Firgaira FA, Yang-Feng TL, Munke M, Francke U, Rosenberg LE.
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| Proc Natl Acad Sci U S A 83 : 2047-2051. 1986
|
| 61 | CBS
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| The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
|
| Mudd SH, et al.
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| Am J Hum Genet 37 : 1-31. 1985
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| 62 | CBS, D21S1, D21S8, D21S11
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| Homocystinuria gene on human chromosome 21 mapped with cloned cystathionine beta-synthase probe and in situ hybridization of other chromosome21 probes.
|
| Mźnke M, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 706-707. 1985
|
| 63 | CBS
|
| Cystathionine beta-synthase (CBS) location excluded from 21pter-q11, but confirmed to 21q, by gene dosage in trisomy 21.
|
| Arias S, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 570. 1985
|
| 64 | CBS
|
| Cystathionine beta synthase : gene dosage effect in trisomy 21.
|
| Chadefaux B, et al.
|
| Biochem Biophys Res Commun 128 : 40-44. 1985
|
| 65 | CBS
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| Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.
|
| Boers GH, Smals AG, Trijbels FJ, Fowler B, Bakkeren JA, Schoonderwaldt HC, Kleijer WJ, Kloppenborg PW.
|
| N Engl J Med 313(12):709-15. 1985
|
| 66 | CBS
|
| Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids.
|
| Skovby F, et al.
|
| Hum Genet 65 : 291-294. 1984
|