C A Brown
Affiliation: Carolinas Medical Center
- The C677T methylenetetrahydrofolate reductase polymorphism influences the homocysteine-lowering effect of hormone replacement therapyC 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...
- A common polymorphism in methionine synthase reductase increases risk of premature coronary artery diseaseC 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...
- Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophyC 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...
- Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophyJ 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...
- Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/CJ J Shen
J Med Genet 40:854-7. 2003