C A Brown

Summary

Affiliation: Carolinas Medical Center
Country: USA

Publications

  1. ncbi The C677T methylenetetrahydrofolate reductase polymorphism influences the homocysteine-lowering effect of hormone replacement therapy
    C A Brown
    Department of Pediatrics, Carolinas Medical Center, Charlotte, North Carolina 28232 2861, USA
    Mol Genet Metab 67:43-8. 1999
  2. ncbi A common polymorphism in methionine synthase reductase increases risk of premature coronary artery disease
    C A Brown
    Department of Pediatrics, Carolinas Medical Center, Charlotte, North Carolina, USA
    J Cardiovasc Risk 7:197-200. 2000
  3. ncbi Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy
    C A Brown
    Department of Pediatric Research, Carolinas Medical Center, Charlotte, NC 28232 2861, USA
    Am J Med Genet 102:359-67. 2001
  4. ncbi Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy
    J A Ellis
    Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
    Hum Genet 104:262-8. 1999
  5. pmc Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C
    J J Shen
    J Med Genet 40:854-7. 2003

Collaborators

Detail Information

Publications5

  1. ncbi The C677T methylenetetrahydrofolate reductase polymorphism influences the homocysteine-lowering effect of hormone replacement therapy
    C A Brown
    Department of Pediatrics, Carolinas Medical Center, Charlotte, North Carolina 28232 2861, USA
    Mol Genet Metab 67:43-8. 1999
    ..Women with the TT genotype did not show decreased homocysteine in response to hormone replacement therapy as demonstrated for women with the CC genotype and may receive decreased cardiovascular benefits from hormone replacement therapy...
  2. ncbi A common polymorphism in methionine synthase reductase increases risk of premature coronary artery disease
    C A Brown
    Department of Pediatrics, Carolinas Medical Center, Charlotte, North Carolina, USA
    J Cardiovasc Risk 7:197-200. 2000
    ..We recently identified a common A-->G polymorphism at position 66 of the cDNA sequence of MTRR; this variant was associated with a greater than normal risk for spina bifida in the presence of low levels of cobalamin...
  3. ncbi Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy
    C A Brown
    Department of Pediatric Research, Carolinas Medical Center, Charlotte, NC 28232 2861, USA
    Am J Med Genet 102:359-67. 2001
    ..Further studies are needed to identify the factors modifying disease phenotype among patients harboring mutations within lamin A/C and to determine the effect of various mutations on lamin A/C structure and function...
  4. ncbi Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy
    J A Ellis
    Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
    Hum Genet 104:262-8. 1999
    ..This is the first report of protein studies on patients with missense mutations resulting in the clinical features of EDMD. These studies demonstrate the importance of proline 183 for the proper structure/function of emerin...
  5. pmc Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C
    J J Shen
    J Med Genet 40:854-7. 2003