136 related articles for article (PubMed ID: 15551332)
1. A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.
Uçkun-Kitapçi A; Underwood LE; Zhang J; Moats-Staats B
Am J Med Genet A; 2005 Jan; 132A(2):125-9. PubMed ID: 15551332
[TBL] [Abstract][Full Text] [Related]
2. Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.
Obermannova B; Sumnik Z; Dusatkova P; Cinek O; Grant M; Lebl J; Hendy GN
Eur J Endocrinol; 2016 Apr; 174(4):K1-K11. PubMed ID: 26764418
[TBL] [Abstract][Full Text] [Related]
3. A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene.
Chikatsu N; Watanabe S; Takeuchi Y; Muraosa Y; Sasaki S; Oka Y; Fukumoto S; Fujita T
Endocr J; 2003 Feb; 50(1):91-6. PubMed ID: 12733714
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms.
Alvarez-Hernández D; Santamaría I; Rodríguez-García M; Iglesias P; Delgado-Lillo R; Cannata-Andía JB
J Mol Endocrinol; 2003 Oct; 31(2):255-62. PubMed ID: 14519094
[TBL] [Abstract][Full Text] [Related]
6. A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia.
Hirai H; Nakajima S; Miyauchi A; Nishimura K; Shimizu N; Shima M; Michigami T; Ozono K; Okada S
J Hum Genet; 2001; 46(1):41-4. PubMed ID: 11289719
[TBL] [Abstract][Full Text] [Related]
7. Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia.
Conley YP; Finegold DN; Peters DG; Cook JS; Oppenheim DS; Ferrell RE
Mol Genet Metab; 2000 Dec; 71(4):591-8. PubMed ID: 11136551
[TBL] [Abstract][Full Text] [Related]
8. Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.
Hu J; Mora S; Weber G; Zamproni I; Proverbio MC; Spiegel AM
J Bone Miner Res; 2004 Apr; 19(4):578-86. PubMed ID: 15005845
[TBL] [Abstract][Full Text] [Related]
9. A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.
Nagase T; Murakami T; Tsukada T; Kitamura R; Chikatsu N; Takeo H; Takata N; Yasuda H; Fukumoto S; Tanaka Y; Nagata N; Yamaguchi K; Akatsu T; Yamamoto M
J Clin Endocrinol Metab; 2002 Jun; 87(6):2681-7. PubMed ID: 12050233
[TBL] [Abstract][Full Text] [Related]
10. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Pidasheva S; D'Souza-Li L; Canaff L; Cole DE; Hendy GN
Hum Mutat; 2004 Aug; 24(2):107-11. PubMed ID: 15241791
[TBL] [Abstract][Full Text] [Related]
11. Novel gain of function mutations of the calcium-sensing receptor in two patients with PTH-deficient hypocalcemia.
Nakajima K; Yamazaki K; Kimura H; Takano K; Miyoshi H; Sato K
Intern Med; 2009; 48(22):1951-6. PubMed ID: 19915295
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Identification and characterization of D410E, a novel mutation in the loop 3 domain of CASR, in autosomal dominant hypocalcemia and a therapeutic approach using a novel calcilytic, AXT914.
Park SY; Mun HC; Eom YS; Baek HL; Jung TS; Kim CH; Hong S; Lee S
Clin Endocrinol (Oxf); 2013 May; 78(5):687-93. PubMed ID: 23009664
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. A novel mutation of the primary protein kinase C phosphorylation site in the calcium-sensing receptor causes autosomal dominant hypocalcemia.
Lazarus S; Pretorius CJ; Khafagi F; Campion KL; Brennan SC; Conigrave AD; Brown EM; Ward DT
Eur J Endocrinol; 2011 Mar; 164(3):429-35. PubMed ID: 21135065
[TBL] [Abstract][Full Text] [Related]
18. Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).
Dharmaraj P; Gorvin CM; Soni A; Nelhans ND; Olesen MK; Boon H; Cranston T; Thakker RV; Hannan FM
J Clin Endocrinol Metab; 2020 May; 105(5):1393-400. PubMed ID: 32150253
[TBL] [Abstract][Full Text] [Related]
19. Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
Watanabe T; Bai M; Lane CR; Matsumoto S; Minamitani K; Minagawa M; Niimi H; Brown EM; Yasuda T
J Clin Endocrinol Metab; 1998 Jul; 83(7):2497-502. PubMed ID: 9661634
[TBL] [Abstract][Full Text] [Related]
20. Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.
Kim MY; Tan AH; Ki CS; Lee JI; Jang HW; Shin HW; Kim SW; Min YK; Lee MS; Lee MK; Kim KW; Chung JH
J Korean Med Sci; 2010 Feb; 25(2):317-20. PubMed ID: 20119591
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
