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578 related items for PubMed ID: 15879434

  • 1. Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
    Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN.
    Hum Mol Genet; 2005 Jun 15; 14(12):1679-90. PubMed ID: 15879434
    [Abstract] [Full Text] [Related]

  • 2. Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.
    Pidasheva S, Grant M, Canaff L, Ercan O, Kumar U, Hendy GN.
    Hum Mol Genet; 2006 Jul 15; 15(14):2200-9. PubMed ID: 16740594
    [Abstract] [Full Text] [Related]

  • 3. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN.
    J Clin Invest; 1997 Apr 15; 99(8):1917-25. PubMed ID: 9109436
    [Abstract] [Full Text] [Related]

  • 4. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
    Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE.
    Hum Mutat; 2000 Oct 15; 16(4):281-96. PubMed ID: 11013439
    [Abstract] [Full Text] [Related]

  • 5. The pathophysiology of primary hyperparathyroidism.
    Brown EM.
    J Bone Miner Res; 2002 Nov 15; 17 Suppl 2():N24-9. PubMed ID: 12412774
    [Abstract] [Full Text] [Related]

  • 6. Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.
    D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DE, Hendy GN.
    J Clin Endocrinol Metab; 2002 Mar 15; 87(3):1309-18. PubMed ID: 11889203
    [Abstract] [Full Text] [Related]

  • 7. An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    D'Souza-Li L, Canaff L, Janicic N, Cole DE, Hendy GN.
    Hum Mutat; 2001 Nov 15; 18(5):411-21. PubMed ID: 11668634
    [Abstract] [Full Text] [Related]

  • 8. Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.
    Ward BK, Magno AL, Blitvich BJ, Rea AJ, Stuckey BG, Walsh JP, Ratajczak T.
    Clin Endocrinol (Oxf); 2006 May 15; 64(5):580-7. PubMed ID: 16649980
    [Abstract] [Full Text] [Related]

  • 9. [Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
    Watanabe S, Fukumoto S.
    Nihon Rinsho; 2002 Feb 15; 60(2):325-30. PubMed ID: 11857921
    [Abstract] [Full Text] [Related]

  • 10. Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
    Felderbauer P, Hoffmann P, Klein W, Bulut K, Ansorge N, Epplen JT, Schmitz F, Schmidt WE.
    Exp Clin Endocrinol Diabetes; 2005 Jan 15; 113(1):31-4. PubMed ID: 15662592
    [Abstract] [Full Text] [Related]

  • 11. Calcium-sensing receptor and associated diseases.
    Hendy GN, Guarnieri V, Canaff L.
    Prog Mol Biol Transl Sci; 2009 Jan 15; 89():31-95. PubMed ID: 20374733
    [Abstract] [Full Text] [Related]

  • 12. Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.
    Cole DE, Yun FH, Wong BY, Shuen AY, Booth RA, Scillitani A, Pidasheva S, Zhou X, Canaff L, Hendy GN.
    J Mol Endocrinol; 2009 Apr 15; 42(4):331-9. PubMed ID: 19179454
    [Abstract] [Full Text] [Related]

  • 13. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG, Seidman CE.
    Nat Genet; 1995 Dec 15; 11(4):389-94. PubMed ID: 7493018
    [Abstract] [Full Text] [Related]

  • 14. Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
    Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN.
    J Clin Endocrinol Metab; 2007 Jul 15; 92(7):2616-23. PubMed ID: 17473068
    [Abstract] [Full Text] [Related]

  • 15. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
    Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP.
    J Clin Invest; 1995 Dec 15; 96(6):2683-92. PubMed ID: 8675635
    [Abstract] [Full Text] [Related]

  • 16. Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.
    Guarnieri V, Canaff L, Yun FH, Scillitani A, Battista C, Muscarella LA, Wong BY, Notarangelo A, D'Agruma L, Sacco M, Cole DE, Hendy GN.
    J Clin Endocrinol Metab; 2010 Apr 15; 95(4):1819-29. PubMed ID: 20164288
    [Abstract] [Full Text] [Related]

  • 17. Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene.
    Yamauchi M, Sugimoto T, Yamaguchi T, Yano S, Wang J, Bai M, Brown EM, Chihara K.
    J Bone Miner Res; 2002 Dec 15; 17(12):2174-82. PubMed ID: 12469911
    [Abstract] [Full Text] [Related]

  • 18. Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.
    Grant MP, Stepanchick A, Breitwieser GE.
    Mol Endocrinol; 2012 Dec 15; 26(12):2081-91. PubMed ID: 23077345
    [Abstract] [Full Text] [Related]

  • 19. Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.
    Hannan FM, Thakker RV.
    Best Pract Res Clin Endocrinol Metab; 2013 Jun 15; 27(3):359-71. PubMed ID: 23856265
    [Abstract] [Full Text] [Related]

  • 20. Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
    Wystrychowski A, Pidasheva S, Canaff L, Chudek J, Kokot F, Wiecek A, Hendy GN.
    J Clin Endocrinol Metab; 2005 Feb 15; 90(2):864-70. PubMed ID: 15572418
    [Abstract] [Full Text] [Related]

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