Karniski LP - Search Results

1

A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.

Maeda K, Miyamoto Y, Sawai H, Karniski LP, Nakashima E, Nishimura G, Ikegawa S. Maeda K, et al. Among authors: karniski lp. Am J Med Genet A. 2006 Jun 1;140(11):1143-7. doi: 10.1002/ajmg.a.31225. Am J Med Genet A. 2006. PMID: 16642506

2

Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.

Karniski LP. Karniski LP. Hum Mol Genet. 2004 Oct 1;13(19):2165-71. doi: 10.1093/hmg/ddh242. Epub 2004 Aug 4. Hum Mol Genet. 2004. PMID: 15294877

3

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.

Karniski LP. Karniski LP. Hum Mol Genet. 2001 Jul 1;10(14):1485-90. doi: 10.1093/hmg/10.14.1485. Hum Mol Genet. 2001. PMID: 11448940

4

The Pendred syndrome gene encodes a chloride-iodide transport protein.

Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. Scott DA, et al. Among authors: karniski lp. Nat Genet. 1999 Apr;21(4):440-3. doi: 10.1038/7783. Nat Genet. 1999. PMID: 10192399

5

Regulated transport of sulfate and oxalate by SLC26A2/DTDST.

Heneghan JF, Akhavein A, Salas MJ, Shmukler BE, Karniski LP, Vandorpe DH, Alper SL. Heneghan JF, et al. Among authors: karniski lp. Am J Physiol Cell Physiol. 2010 Jun;298(6):C1363-75. doi: 10.1152/ajpcell.00004.2010. Epub 2010 Mar 10. Am J Physiol Cell Physiol. 2010. PMID: 20219950 Free PMC article.

6

Protein localization of SLC26A2 (DTDST) in rat kidney.

Chapman JM, Karniski LP. Chapman JM, et al. Among authors: karniski lp. Histochem Cell Biol. 2010 May;133(5):541-7. doi: 10.1007/s00418-010-0694-x. Epub 2010 Apr 6. Histochem Cell Biol. 2010. PMID: 20369363

7

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

Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ. Campbell C, et al. Among authors: karniski lp. Hum Mutat. 2001 May;17(5):403-11. doi: 10.1002/humu.1116. Hum Mutat. 2001. PMID: 11317356

8

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC. Scott DA, et al. Among authors: karniski lp. Hum Mol Genet. 2000 Jul 1;9(11):1709-15. doi: 10.1093/hmg/9.11.1709. Hum Mol Genet. 2000. PMID: 10861298

9

Immunolocalization of sat-1 sulfate/oxalate/bicarbonate anion exchanger in the rat kidney.

Karniski LP, Lötscher M, Fucentese M, Hilfiker H, Biber J, Murer H. Karniski LP, et al. Am J Physiol. 1998 Jul;275(1):F79-87. doi: 10.1152/ajprenal.1998.275.1.F79. Am J Physiol. 1998. PMID: 9689008

10

Formate-stimulated NaCl absorption in the proximal tubule is independent of the pendrin protein.

Karniski LP, Wang T, Everett LA, Green ED, Giebisch G, Aronson PS. Karniski LP, et al. Am J Physiol Renal Physiol. 2002 Nov;283(5):F952-6. doi: 10.1152/ajprenal.00182.2002. Am J Physiol Renal Physiol. 2002. PMID: 12372770 Free article.

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