574 related articles for article (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; 14(12):1679-90. PubMed ID: 15879434
[TBL] [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(14):2200-9. PubMed ID: 16740594
[TBL] [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; 99(8):1917-25. PubMed ID: 9109436
[TBL] [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; 16(4):281-96. PubMed ID: 11013439
[TBL] [Abstract][Full Text] [Related]
5. The pathophysiology of primary hyperparathyroidism.
Brown EM
J Bone Miner Res; 2002 Nov; 17 Suppl 2():N24-9. PubMed ID: 12412774
[TBL] [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; 87(3):1309-18. PubMed ID: 11889203
[TBL] [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; 18(5):411-21. PubMed ID: 11668634
[TBL] [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; 64(5):580-7. PubMed ID: 16649980
[TBL] [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; 60(2):325-30. PubMed ID: 11857921
[TBL] [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; 113(1):31-4. PubMed ID: 15662592
[TBL] [Abstract][Full Text] [Related]
11. Calcium-sensing receptor and associated diseases.
Hendy GN; Guarnieri V; Canaff L
Prog Mol Biol Transl Sci; 2009; 89():31-95. PubMed ID: 20374733
[TBL] [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; 42(4):331-9. PubMed ID: 19179454
[TBL] [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; 11(4):389-94. PubMed ID: 7493018
[TBL] [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; 92(7):2616-23. PubMed ID: 17473068
[TBL] [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; 96(6):2683-92. PubMed ID: 8675635
[TBL] [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; 95(4):1819-29. PubMed ID: 20164288
[TBL] [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; 17(12):2174-82. PubMed ID: 12469911
[TBL] [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; 26(12):2081-91. PubMed ID: 23077345
[TBL] [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; 27(3):359-71. PubMed ID: 23856265
[TBL] [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; 90(2):864-70. PubMed ID: 15572418
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
