259 related articles for article (PubMed ID: 20846291)
1. A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.
Hannan FM; Nesbit MA; Christie PT; Lissens W; Van der Schueren B; Bex M; Bouillon R; Thakker RV
Clin Endocrinol (Oxf); 2010 Dec; 73(6):715-22. PubMed ID: 20846291
[TBL] [Abstract][Full Text] [Related]
2. An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.
Chikatsu N; Fukumoto S; Suzawa M; Tanaka Y; Takeuchi Y; Takeda S; Tamura Y; Matsumoto T; Fujita T
Clin Endocrinol (Oxf); 1999 Apr; 50(4):537-43. PubMed ID: 10468915
[TBL] [Abstract][Full Text] [Related]
3. Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.
Stratta P; Merlotti G; Musetti C; Quaglia M; Pagani A; Izzo C; Radin E; Airoldi A; Baorda F; Palladino T; Leone MP; Guarnieri V
Nephrol Dial Transplant; 2014 Oct; 29(10):1902-9. PubMed ID: 25104082
[TBL] [Abstract][Full Text] [Related]
4. Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.
Frank-Raue K; Leidig-Bruckner G; Haag C; Schulze E; Lorenz A; Schmitz-Winnenthal H; Raue F
Clin Endocrinol (Oxf); 2011 Jul; 75(1):50-5. PubMed ID: 21521328
[TBL] [Abstract][Full Text] [Related]
5. Naturally-occurring mutation in the calcium-sensing receptor reveals the significance of extracellular domain loop III region for class C G-protein-coupled receptor function.
Dong Q; Cheng Z; Chang W; Blackman BE; Conte FA; Hu J; Shoback D; Miller WL
J Clin Endocrinol Metab; 2010 Oct; 95(10):E245-52. PubMed ID: 20631026
[TBL] [Abstract][Full Text] [Related]
6. A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.
Diaz-Thomas A; Cannon J; Iyer P; Al-Maawali A; Fazalullah M; Diamond F; Mueller OT; Root AW; Alyaarubi S
J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):851-6. PubMed ID: 24854525
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation.
Szalat A; Shahar M; Shpitzen S; Nachmias B; Munter G; Gillis D; Durst R; Mevorach D; Leitersdorf E; Meiner V; Rosen H
Endocrine; 2015 Mar; 48(2):444-53. PubMed ID: 25091521
[TBL] [Abstract][Full Text] [Related]
10. A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
Lietman SA; Tenenbaum-Rakover Y; Jap TS; Yi-Chi W; De-Ming Y; Ding C; Kussiny N; Levine MA
J Clin Endocrinol Metab; 2009 Nov; 94(11):4372-9. PubMed ID: 19789209
[TBL] [Abstract][Full Text] [Related]
11. New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).
Rodrigues LS; Cáu AC; Bussmann LZ; Bastida G; Brunetto OH; Corrêa PH; Martin RM
Arq Bras Endocrinol Metabol; 2011 Feb; 55(1):67-71. PubMed ID: 21468522
[TBL] [Abstract][Full Text] [Related]
12. Primary hyperparathyroidism in a patient with familial hypocalciuric hypercalcaemia due to a novel mutation in the calcium-sensing receptor gene.
Egan AM; Ryan J; Aziz MA; O'Dwyer TP; Byrne MM
J Bone Miner Metab; 2013 Jul; 31(4):477-80. PubMed ID: 23081733
[TBL] [Abstract][Full Text] [Related]
13. Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.
Wejaphikul K; Dejkhamron P; Khorana J; Watcharachan K; Intachai W; Olsen B; Tongsima S; Ketudat Cairns JR; Ngamphiw C; Kantaputra P
Horm Res Paediatr; 2023; 96(4):432-438. PubMed ID: 36626889
[TBL] [Abstract][Full Text] [Related]
14. Reduced affinity of calcium sensing-receptor heterodimers and reduced mutant homodimer trafficking combine to impair function in a model of familial hypocalciuric hypercalcemia type 1.
Wang X; Lundblad J; Smith SM
PLoS One; 2022; 17(7):e0266993. PubMed ID: 35857775
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A homozygous CaSR mutation causing a FHH phenotype completely masked by vitamin D deficiency presenting as rickets.
Szczawinska D; Schnabel D; Letz S; Schöfl C
J Clin Endocrinol Metab; 2014 Jun; 99(6):E1146-53. PubMed ID: 24517148
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
Gorvin CM; Cranston T; Hannan FM; Rust N; Qureshi A; Nesbit MA; Thakker RV
J Bone Miner Res; 2016 Jun; 31(6):1200-6. PubMed ID: 26729423
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations.
Egbuna OI; Brown EM
Best Pract Res Clin Rheumatol; 2008 Mar; 22(1):129-48. PubMed ID: 18328986
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
