BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

398 related articles for article (PubMed ID: 24297799)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
    Pearce SH; Williamson C; Kifor O; Bai M; Coulthard MG; Davies M; Lewis-Barned N; McCredie D; Powell H; Kendall-Taylor P; Brown EM; Thakker RV
    N Engl J Med; 1996 Oct; 335(15):1115-22. PubMed ID: 8813042
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.
    Tenhola S; Voutilainen R; Reyes M; Toiviainen-Salo S; Jüppner H; Mäkitie O
    Eur J Endocrinol; 2016 Sep; 175(3):211-8. PubMed ID: 27334330
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Bone Matrix Mineralization in Patients With Gain-of-Function Calcium-Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism.
    Ovejero D; Misof BM; Gafni RI; Dempster D; Zhou H; Klaushofer K; Collins MT; Roschger P
    J Bone Miner Res; 2019 Apr; 34(4):661-668. PubMed ID: 30496603
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: A case report.
    Ji Y; Kang C; Chen J; Zhang L
    Medicine (Baltimore); 2021 Jun; 100(25):e26443. PubMed ID: 34160437
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 20.