Literature DB >> 7581402

High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.

P M Gallagher1, P Ward, S Tan, E Naughten, J P Kraus, G C Sellar, D J McConnell, I Graham, A S Whitehead.   

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Year:  1995        PMID： 7581402     DOI： 10.1002/humu.1380060211

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  25 in total

1.  Prevalence of methylenetetrahydrofolate reductase mutations in patients with venous thrombosis.

Authors:  P A Isotalo; J G Donnelly
Journal:  Mol Diagn       Date:  2000-03

Review 2.  Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.

Authors:  Richard S Beard; Shawn E Bearden
Journal:  Am J Physiol Heart Circ Physiol       Date:  2010-10-22       Impact factor: 4.733

3.  Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

Authors:  M Coudé; J Aupetit; M T Zabot; P Kamoun; B Chadefaux-Vekemans
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982

4.  Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.

Authors:  Ana Marcão; María L Couce; Célia Nogueira; Helena Fonseca; Filipa Ferreira; José M Fraga; M Dolores Bóveda; Laura Vilarinho
Journal:  JIMD Rep       Date:  2015-02-01

5.  Surrogate genetics and metabolic profiling for characterization of human disease alleles.

Authors:  Jacob A Mayfield; Meara W Davies; Dago Dimster-Denk; Nick Pleskac; Sean McCarthy; Elizabeth A Boydston; Logan Fink; Xin Xin Lin; Ankur S Narain; Michael Meighan; Jasper Rine
Journal:  Genetics       Date:  2012-01-20       Impact factor: 4.562

6.  Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (CBS) reveal effects on CBS activity but not stability.

Authors:  Sapna Gupta; Simon Kelow; Liqun Wang; Mark D Andrake; Roland L Dunbrack; Warren D Kruger
Journal:  J Biol Chem       Date:  2018-07-20       Impact factor: 5.157

Review 7.  Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

Authors:  J P Kraus
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  H L Levy; J E Vargas; S E Waisbren; T W Kurczynski; E R Roeder; R S Schwartz; S Rosengren; C Prasad; C R Greenberg; B M Gilfix; D MacGregor; V E Shih; L Bao; J P Kraus
Journal:  J Inherit Metab Dis       Date:  2002-08       Impact factor: 4.982

Review 9.  Classical homocystinuria: vascular risk and its prevention.

Authors:  S Yap
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

10.  Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.

Authors:  Celia Ravel; Sandra Chantot-Bastaraud; Clementine Chalmey; Luis Barreiro; Isabelle Aknin-Seifer; Jerome Pfeffer; Isabelle Berthaut; E Emmanuelle Mathieu; Jacqueline Mandelbaum; Jean-Pierre Siffroi; Ken McElreavey; Anu Bashamboo
Journal:  PLoS One       Date:  2009-08-06       Impact factor: 3.240
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