Department of Internal Medicine
Nephrology Faculty
Medical School:
University of Kansas
Residency:
University of Texas
Fellowship:
Yale University
Lawrence P. Karniski, M.D.
Professor
Research in my lab has 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 identified the function of the PDS gene product as a chloride/iodide/formate anion exchanger and determined how defects in the protein lead to the clinical manifestations of Pendred syndrome.
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 have identified the relationship of the gene mutations to variations in disease severity.
Honors, Awards, and Organizations
- Diplomat, 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
- Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S,Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ. SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms. Human Mutation 30: 599-608, 2009.
- Shcheynikov N, Yang D, Wang Y, Zeng W, Karniski LP, So I, Wall SM, Muallem S. The Slc26a4 transporter functions as an electroneutral Cl-/I-/HCO3- exchanger: role of Slc26a4 and Slc26a6 in I- and HCO3- secretion and in regulation of CFTR in the parotid duct. J Physiol. 586: 3813-24, 2008.
- Hassan HA, Mentone S, Karniski LP, Rajendran V, Aronson PS. Regulation of Anion Exchanger Slc26a6 by Protein Kinase C. Am J. Cell Physiol. 292: C1485-92, 2007.
- 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.
- 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. Mar 27;98(7):4221-6, 2001.
- Scott, D.A., Wang, R., Kreman, T., Sheffield, V.C., and Karniski, L.P.: The Pendred Syndrome (PDS) Gene Encodes a Chloride, Iodide Transport Protein. Nature Genetics, 21: 440-443, 1999.
Links of Interest