Research Topics
Species | LAWRENCE KARNISKISummaryAffiliation: University of Iowa Country: USA Publications
Research Grants
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Detail Information
Publications
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotypeL P Karniski
Laboratory of Epithelial Transport, Department of Internal Medicine, Veterans Affairs Medical Center and University of Iowa College of Medicine, Iowa City, IA 52242, USA
Hum Mol Genet 10:1485-90. 2001....
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cellsLawrence P Karniski
Laboratory of Epithelial Transport, Department of Internal Medicine, Veterans Affairs Medical Center and University of Iowa College of Medicine, Iowa City, IA 52242, USA
Hum Mol Genet 13:2165-71. 2004..In contrast to previous studies in Xenopus laevis oocytes, we find a strong correlation between the severity of the phenotype and the level of residual transport function in mammalian cells...
Formate-stimulated NaCl absorption in the proximal tubule is independent of the pendrin proteinLawrence P Karniski
Department of Internal Medicine, Veterans Affairs Medical Center and University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
Am J Physiol Renal Physiol 283:F952-6. 2002..These studies demonstrate that pendrin is not responsible for formate-dependent NaCl reabsorption in the proximal tubule...
Regulation of anion exchanger Slc26a6 by protein kinase CHatim A Hassan
Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06520, USA
Am J Physiol Cell Physiol 292:C1485-92. 2007..We conclude that multiple modes of anion exchange mediated by Slc26a6 are negatively regulated by PKC-delta activation...
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasiaKoichi Maeda
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Shirokanedai, Tokyo, Japan
Am J Med Genet A 140:1143-7. 2006..G663R is a loss-of-function mutation. Our case supports the previously described correlation between the severity of the phenotype and the putative level of residual transport function...
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 ductNikolay Shcheynikov
Department of Physiology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
J Physiol 586:3813-24. 2008....
Research Grants
- FUNCTIONAL AND MOLECULAR CHARACTERIZATION OF PENDRINLAWRENCE KARNISKI; Fiscal Year: 2004..This work is a first step towards understanding the physiologic role of pendrin and determining how defects in pendrin lead to the clinical manifestations of Pendred syndrome. ..
