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Page 1
Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ, Loh NY, Thakker RV. Stechman MJ, et al. Among authors: thakker rv. Pediatr Nephrol. 2009 Dec;24(12):2321-32. doi: 10.1007/s00467-008-0807-0. Epub 2008 Apr 30. Pediatr Nephrol. 2009. PMID: 18446382 Free PMC article. Review.
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
Wu F, Reed AA, Williams SE, Loh NY, Lippiat JD, Christie PT, Large O, Bettinelli A, Dillon MJ, Goldraich NP, Hoppe B, Lhotta K, Loirat C, Malik R, Morel D, Kotanko P, Roussel B, Rubinger D, Schrander-Stumpel C, Serdaroglu E, Nesbit MA, Ashcroft F, Thakker RV. Wu F, et al. Among authors: thakker rv. Nephron Physiol. 2009;112(4):p53-62. doi: 10.1159/000225944. Epub 2009 Jun 20. Nephron Physiol. 2009. PMID: 19546591
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.
Reed AA, Loh NY, Terryn S, Lippiat JD, Partridge C, Galvanovskis J, Williams SE, Jouret F, Wu FT, Courtoy PJ, Nesbit MA, Rorsman P, Devuyst O, Ashcroft FM, Thakker RV. Reed AA, et al. Among authors: thakker rv. Am J Physiol Renal Physiol. 2010 Feb;298(2):F365-80. doi: 10.1152/ajprenal.00038.2009. Epub 2009 Nov 25. Am J Physiol Renal Physiol. 2010. PMID: 19940036 Free PMC article.
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. Bowl MR, et al. Among authors: thakker rv, thakker yv. Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27. Hum Mol Genet. 2010. PMID: 20190276
382 results