205 related articles for article (PubMed ID: 25506941)
1. Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia.
Letz S; Haag C; Schulze E; Frank-Raue K; Raue F; Hofner B; Mayr B; Schöfl C
PLoS One; 2014; 9(12):e115178. PubMed ID: 25506941
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Activating Calcium-Sensing Receptor Mutations: Prospects for Future Treatment with Calcilytics.
Mayr B; Glaudo M; Schöfl C
Trends Endocrinol Metab; 2016 Sep; 27(9):643-652. PubMed ID: 27339034
[TBL] [Abstract][Full Text] [Related]
6. Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
Gorvin CM; Stokes VJ; Boon H; Cranston T; Glück AK; Bahl S; Homfray T; Aung T; Shine B; Lines KE; Hannan FM; Thakker RV
J Clin Endocrinol Metab; 2020 Mar; 105(3):952-63. PubMed ID: 31820785
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
Gorvin CM; Frost M; Malinauskas T; Cranston T; Boon H; Siebold C; Jones EY; Hannan FM; Thakker RV
Hum Mol Genet; 2018 Nov; 27(21):3720-3733. PubMed ID: 30052933
[TBL] [Abstract][Full Text] [Related]
10. Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.
Kinoshita Y; Hori M; Taguchi M; Watanabe S; Fukumoto S
J Clin Endocrinol Metab; 2014 Feb; 99(2):E363-8. PubMed ID: 24297799
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1.
Papadopoulou A; Gole E; Melachroinou K; Trangas T; Bountouvi E; Papadimitriou A
Hormones (Athens); 2017 Apr; 16(2):200-204. PubMed ID: 28742508
[TBL] [Abstract][Full Text] [Related]
13. G
Gorvin CM; Hannan FM; Howles SA; Babinsky VN; Piret SE; Rogers A; Freidin AJ; Stewart M; Paudyal A; Hough TA; Nesbit MA; Wells S; Vincent TL; Brown SD; Cox RD; Thakker RV
JCI Insight; 2017 Feb; 2(3):e91103. PubMed ID: 28194447
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome.
Vargas-Poussou R; Huang C; Hulin P; Houillier P; Jeunemaître X; Paillard M; Planelles G; Déchaux M; Miller RT; Antignac C
J Am Soc Nephrol; 2002 Sep; 13(9):2259-66. PubMed ID: 12191970
[TBL] [Abstract][Full Text] [Related]
17. Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome.
Vezzoli G; Arcidiacono T; Paloschi V; Terranegra A; Biasion R; Weber G; Mora S; Syren ML; Coviello D; Cusi D; Bianchi G; Soldati L
J Nephrol; 2006; 19(4):525-8. PubMed ID: 17048213
[TBL] [Abstract][Full Text] [Related]
18. Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor.
Maruca K; Brambilla I; Mingione A; Bassi L; Capelli S; Brasacchio C; Soldati L; Cisternino M; Mora S
Mol Cell Endocrinol; 2017 Jan; 439():187-193. PubMed ID: 27561204
[TBL] [Abstract][Full Text] [Related]
19. Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
Baran N; ter Braak M; Saffrich R; Woelfle J; Schmitz U
Mol Cell Endocrinol; 2015 May; 407():18-25. PubMed ID: 25766501
[TBL] [Abstract][Full Text] [Related]
20. Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.
Thim SB; Birkebaek NH; Nissen PH; Høst C
Acta Paediatr; 2014 Nov; 103(11):1117-25. PubMed ID: 25039540
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]