Lawrence P. Karniski

The Pendred syndrome gene encodes a chloride-iodide transport protein

Daryl A. Scott, Rong Wang, Trisha Kreman et al. · Nature Genetics · 1999 · 564 citations

Pendred Syndrome Gene, Disease Mechanism, Mendelian Disorder +5

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

Inès Royaux, Susan M. Wall, Lawrence P. Karniski et al. · Proceedings of the National Academy of Sciences · 2001 · 540 citations · Full text

Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

Colleen A. Campbell, Robert A. Cucci, Sai Prasad et al. · Human Mutation · 2001 · 297 citations

Human pendrin expressed in <i>Xenopus laevis</i> oocytes mediates chloride/formate exchange

Daryl A. Scott, Lawrence P. Karniski · American Journal of Physiology-Cell Physiology · 2000 · 180 citations · Full text

Protein Secretion, Xenopus Laevis Oocytes, Molecular Biology +18

Hypo-Functional<i>SLC26A4</i>variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

Byung Yoon Choi, Andrew K. Stewart, Anne C. Madeo et al. · Human Mutation · 2009 · 150 citations · Full text