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Functional BSND variants in essential hypertension.
Residues Lining the Inner Pore Vestibule of Human Muscle Chloride Channels*
It is demonstrated that a highly conserved 8-amino acid motif (P3) located in the linker between transmembrane domains D2 and D3 contributes to the formation of a wide pore vestibule facing the cell interior.
CLCNKB-T481S and essential hypertension in a Ghanaian population
It is concluded that CLCNKB-T481S is associated with essential hypertension in males within the Ghanaian population; however, further studies are needed to understand its sex and ethnic segregation as well as to identify cellular factors that account for the divergent functional expression of ClC-Kb-T482S plus barttin in Xenopus oocytes and mammalian cells.
Kinetic isotope effects of nucleoside hydrolase from Escherichia coli.
Functional interaction between extracellular sodium, potassium and inactivation gating in HERG channels
- Franklin M. Mullins, S. Stepanovic, N. Gillani, A. George, J. Balser
- BiologyThe Journal of physiology
- 1 August 2004
This study studied hyperpolarization‐activated currents uncoupled from inactivation in the S4–S5 linker mutant D540K and reveals a direct link between Na+o inhibition and a depolarized‐induced conformational change, most likely inactivation.
Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)
A previously associated variant for gallstone disease risk in non-Hispanic whites is replicated, and ABCG5 rs6756629 is in strong linkage disequilibrium with rs11887534 (D19H), a variant previously associated with gallstone Disease risk in populations of European-descent.
Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records.
The frequently medicated study population did not convincingly differ in allele frequency from reference populations, suggesting that heterogeneous clinical samples (with respect to medications) have similar allele frequency distributions in pharmacogenetics genes compared with reference populations.
Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study
The results suggest that vitamins A and E may modify known genotype–phenotype associations; however, these interactions account for only a fraction of the overall variability observed for HDL-C, LDL-C and TG levels in the general population.
Haplotype Diversity in Four Genes (CLCNKA, CLCNKB, BSND, NEDD4L) Involved in Renal Salt Reabsorption
- S. Sile, D. R. Velez, N. Gillani, Charles R. Alexander, Alfred L. George Jr., S. Williams
- Biology, MedicineHuman Heredity
- 25 July 2007
Haplotype diversity in hypertension candidate genes has important implications for designing and evaluating candidate gene or genome-wide blood pressure association studies that consider these genes.
Characterization of the Metabochip in diverse populations from the International HapMap Project in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project.
The overall allele frequency distribution, overall population differentiation, and linkage disequilibrium patterns for a select GWAS-identified region associated with low-density lipoprotein cholesterol levels are reported to illustrate the utility of the Metabochip for fine-mapping studies in the diverse populations expected in EAGLE, the PAGE study, and other efforts underway designed to characterize the complex genetic architecture underlying common human disease and quantitative traits.