132 related articles for article (PubMed ID: 38561929)
21. 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]
22. Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
Dong B; Endo I; Ohnishi Y; Kondo T; Hasegawa T; Amizuka N; Kiyonari H; Shioi G; Abe M; Fukumoto S; Matsumoto T
J Bone Miner Res; 2015 Nov; 30(11):1980-93. PubMed ID: 25967373
[TBL] [Abstract][Full Text] [Related]
23. Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.
Kim ES; Kim SY; Lee JY; Han JH; Sohn TS; Son HS; Moon SD
J Bone Miner Metab; 2016 Nov; 34(6):662-667. PubMed ID: 26386835
[TBL] [Abstract][Full Text] [Related]
24. The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).
Hannan FM; Walls GV; Babinsky VN; Nesbit MA; Kallay E; Hough TA; Fraser WD; Cox RD; Hu J; Spiegel AM; Thakker RV
Endocrinology; 2015 Sep; 156(9):3114-21. PubMed ID: 26052899
[TBL] [Abstract][Full Text] [Related]
25. A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.
Gorvin CM; Babinsky VN; Malinauskas T; Nissen PH; Schou AJ; Hanyaloglu AC; Siebold C; Jones EY; Hannan FM; Thakker RV
Sci Signal; 2018 Feb; 11(518):. PubMed ID: 29463778
[TBL] [Abstract][Full Text] [Related]
26. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
Nesbit MA; Hannan FM; Howles SA; Babinsky VN; Head RA; Cranston T; Rust N; Hobbs MR; Heath H; Thakker RV
N Engl J Med; 2013 Jun; 368(26):2476-2486. PubMed ID: 23802516
[TBL] [Abstract][Full Text] [Related]
27. Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Dershem R; Gorvin CM; Metpally RPR; Krishnamurthy S; Smelser DT; Hannan FM; Carey DJ; Thakker RV; Breitwieser GE;
Am J Hum Genet; 2020 Jun; 106(6):734-747. PubMed ID: 32386559
[TBL] [Abstract][Full Text] [Related]
28. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
Okazaki R; Chikatsu N; Nakatsu M; Takeuchi Y; Ajima M; Miki J; Fujita T; Arai M; Totsuka Y; Tanaka K; Fukumoto S
J Clin Endocrinol Metab; 1999 Jan; 84(1):363-6. PubMed ID: 9920108
[TBL] [Abstract][Full Text] [Related]
29. Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.
García-Castaño A; Madariaga L; Pérez de Nanclares G; Ariceta G; Gaztambide S; Castaño L
Eur J Endocrinol; 2019 Jan; 180(1):59-70. PubMed ID: 30407919
[TBL] [Abstract][Full Text] [Related]
30. CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Guarnieri V; Valentina D'Elia A; Baorda F; Pazienza V; Benegiamo G; Stanziale P; Copetti M; Battista C; Grimaldi F; Damante G; Pellegrini F; D'Agruma L; Zelante L; Carella M; Scillitani A
Mol Genet Metab; 2012 Nov; 107(3):548-52. PubMed ID: 22789683
[TBL] [Abstract][Full Text] [Related]
31. Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia.
Cetani F; Lemmi M; Cervia D; Borsari S; Cianferotti L; Pardi E; Ambrogini E; Banti C; Brown EM; Bagnoli P; Pinchera A; Marcocci C
Eur J Endocrinol; 2009 Mar; 160(3):481-9. PubMed ID: 19073830
[TBL] [Abstract][Full Text] [Related]
32. Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.
Livadariu E; Auriemma RS; Rydlewski C; Vandeva S; Hamoir E; Burlacu MC; Maweja S; Thonnard AS; Betea D; Vassart G; Daly AF; Beckers A
Eur J Endocrinol; 2011 Aug; 165(2):353-8. PubMed ID: 21566074
[TBL] [Abstract][Full Text] [Related]
33. Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
Piret SE; Gorvin CM; Pagnamenta AT; Howles SA; Cranston T; Rust N; Nesbit MA; Glaser B; Taylor JC; Buchs AE; Hannan FM; Thakker RV
J Bone Miner Res; 2016 Jun; 31(6):1207-14. PubMed ID: 26818911
[TBL] [Abstract][Full Text] [Related]
34. Novel activating mutations of the calcium-sensing receptor: the calcilytic NPS-2143 mitigates excessive signal transduction of mutant receptors.
Letz S; Rus R; Haag C; Dörr HG; Schnabel D; Möhlig M; Schulze E; Frank-Raue K; Raue F; Mayr B; Schöfl C
J Clin Endocrinol Metab; 2010 Oct; 95(10):E229-33. PubMed ID: 20668040
[TBL] [Abstract][Full Text] [Related]
35. Rare diseases caused by abnormal calcium sensing and signalling.
Tőke J; Czirják G; Enyedi P; Tóth M
Endocrine; 2021 Mar; 71(3):611-617. PubMed ID: 33528764
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. 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]
39. Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals.
Nissen PH; Rejnmark L
Clin Endocrinol (Oxf); 2019 Nov; 91(5):683-690. PubMed ID: 31433865
[TBL] [Abstract][Full Text] [Related]
40. A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.
Lienhardt A; Garabédian M; Bai M; Sinding C; Zhang Z; Lagarde JP; Boulesteix J; Rigaud M; Brown EM; Kottler ML
J Clin Endocrinol Metab; 2000 Apr; 85(4):1695-702. PubMed ID: 10770217
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]