Evaluation of the flanking nucleotide sequences of sarcomeric hypertrophic cardiomyopathy substitution mutations

Marian, 2000, The molecular genetic basis for hypertrophic cardiomyopathy, J. Mol. Cell Cardiol., 33, 655, 10.1006/jmcc.2001.1340 Alcalai, 2007, Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics, J. Cardiovasc. Electrophysiol., 19, 1 Bos, 2007, Genetics of hypertrophic cardiomyopathy: one, two or more diseases?, Curr. Opin. Cardiol., 22, 193, 10.1097/HCO.0b013e3280e1cc7f Alders, 2003, The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands, Eur. Heart J., 24, 1848, 10.1016/S0195-668X(03)00466-4 Erdmann, 2001, Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy, J. Am. Coll. Cardiol., 38, 322, 10.1016/S0735-1097(01)01387-0 Watkins, 1993, Independent origin of identical β cardiac myosin heavy chain mutations in hypertrophic cardiomyopathy, Am. J. Hum. Genet., 53, 1180 Moolman, 1999, The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events, Am. J. Hum. Genet., 65, 1308, 10.1086/302623 Krawczak, 1998, Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes, Am. J. Hum. Genet., 63, 474, 10.1086/301965 Antonarakis, 2001, The nature and mechanisms of human gene mutation, 343 Arndt, 2005, Identification and measurement of neighbor-dependent nucleotide substutution processes, Bioinformatics, 21, 2322, 10.1093/bioinformatics/bti376 Genomics of Cardiovascular Development, Adaptation, and Remodeling. NHLBI Program for Genomic Applications, Harvard Medical School (accessed October 2007). Kent, 2002, The human genome browser at UCSC, Genome Res., 12, 996, 10.1101/gr.229102. Article published online before print in May 2002 Cooper, 1999, Single base pair substitutions Walsh, 2006, Cytosine methylation and DNA repair, Curr. Top. Microbiol. Immunol., 301, 283, 10.1007/3-540-31390-7_11 Feng, 2006, Acrolein is a major cigarette-related lung cancer agent: preferential binding at p53 mutational hotspots and inhibition of DNA repair, Proc. Natl. Acad. Sci. U.S.A., 103, 15404, 10.1073/pnas.0607031103 Denissenko, 1996, Preferential formation of benzo[a]pyrene adducts at lung cancer mutational hotspots in P53, Science, 274, 430, 10.1126/science.274.5286.430 Pfeifer, 2002, Tobacco smoke carcinogens, DNA damage and p53 mutations in smoking-associated cancers, Oncogene, 21, 7435, 10.1038/sj.onc.1205803 Chen, 1998, Carcinogens preferentially bind at methylated CpG in the p53 mutational hotspots, Cancer Res., 58, 2070