Department of Internal Medicine

Nephrology Faculty

Lawrence P. Karniski, M.D.
Professor

Ongoing research in this lab is concentrated on understanding the mechanisms of anion transport across epithelial cells and their role in genetic disease.

Defects in the PDS gene have been implicated in the development of Pendred syndrome, a congenital disease characterized by deafness and goiter. Our lab has identified the function of the PDS gene product as a chloride/iodide/formate anion exchanger and localized it to the apical membrane of Beta Intercalated cells in the collecting duct.

Defects in the DTD gene cause Diastrophic Dysplasia, a congenital disease with mild-to-severe bone development abnormalities. The DTD gene product is a sulfate/chloride exchanger and we are currently exploring the relationship of the gene mutations to variations in disease severity.

A fellow completing training in this lab will have the opportunity to develop a broad understanding of transport kinetics, protein biochemistry, molecular biology and cell culture techniques.

Medical School:
University of Kansas

Residency:
University of Texas

Fellowship:
Yale University

Honors, Awards, and Organizations

Diplomate, American Board of Internal Medicine and Board of Nephrology
American Society for Biochemistry and Molecular Biology
American Society of Nephrology
VA Clinical Investigator Award
Fogarty International Fellow

Recent Publications

Karniski, L.P.: Functional expression and cellular distribution of Diastrophic Dysplasia Sulfate Transporter (DTDST) gene mutations in HEK cells. Hum Mol Genet. 13:2165-2171, 2004..
Karniski, L.P., Wang, T., Everett, L.A., Green, E.D., Giebisch, G. and Aronson, P.S.: Formate-stimulated NaCl absorption in the proximal tubule is independent of the pendrin protein. Am J Physiol Renal Physiol. 283:F952-F956, 2002.
Karniski, L.P.: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 2001 Jul 1;10(14):1485-90.
Royaux, I.E., Wall, S.M,, Karniski, L.P., Everett, L.A., Suzuki, K., Knepper, M.A., Green, E.D.: Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):4221-6.
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