244 related articles for article (PubMed ID: 28833550)
1. Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα
Gorvin CM; Hannan FM; Cranston T; Valta H; Makitie O; Schalin-Jantti C; Thakker RV
J Bone Miner Res; 2018 Jan; 33(1):32-41. PubMed ID: 28833550
[TBL] [Abstract][Full Text] [Related]
2. Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.
Babinsky VN; Hannan FM; Gorvin CM; Howles SA; Nesbit MA; Rust N; Hanyaloglu AC; Hu J; Spiegel AM; Thakker RV
J Biol Chem; 2016 May; 291(20):10876-85. PubMed ID: 26994139
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.
Howles SA; Hannan FM; Gorvin CM; Piret SE; Paudyal A; Stewart M; Hough TA; Nesbit MA; Wells S; Brown SD; Cox RD; Thakker RV
JCI Insight; 2017 Oct; 2(20):. PubMed ID: 29046478
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Howles SA; Gorvin CM; Cranston T; Rogers A; Gluck AK; Boon H; Gibson K; Rahman M; Root A; Nesbit MA; Hannan FM; Thakker RV
J Bone Miner Res; 2023 Jun; 38(6):907-917. PubMed ID: 36970776
[TBL] [Abstract][Full Text] [Related]
7. Personalised medicines for familial hypercalcemia and hyperparathyroidism.
Josephs TM; Zhang F; Dinh LV; Keller AN; Conigrave AD; Capuano B; Gregory KJ; Leach K
J Mol Endocrinol; 2022 May; 69(1):243-257. PubMed ID: 35318962
[TBL] [Abstract][Full Text] [Related]
8. Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature.
Koca SB
Turk J Pediatr; 2023; 65(5):853-861. PubMed ID: 37853976
[TBL] [Abstract][Full Text] [Related]
9. Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.
Hannan FM; Stevenson M; Bayliss AL; Stokes VJ; Stewart M; Kooblall KG; Gorvin CM; Codner G; Teboul L; Wells S; Thakker RV
Hum Mol Genet; 2021 May; 30(10):880-892. PubMed ID: 33729479
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.
Cuny T; Romanet P; Goldsworthy M; Guérin C; Wilkin M; Roche P; Sebag F; van Summeren LE; Stevenson M; Howles SA; Deharo JC; Thakker RV; Taïeb D
J Clin Endocrinol Metab; 2024 Jan; 109(2):549-556. PubMed ID: 37602721
[TBL] [Abstract][Full Text] [Related]
12. Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.
Szalat A; Shpitzen S; Tsur A; Zalmon Koren I; Shilo S; Tripto-Shkolnik L; Durst R; Leitersdorf E; Meiner V
Endocrine; 2017 Mar; 55(3):741-747. PubMed ID: 28176280
[TBL] [Abstract][Full Text] [Related]
13. A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia.
Falchetti A; Gozzini A; Terranegra A; Soldati L; Vezzoli G; Leoncini G; Giusti F; Franceschelli F; Masi L; Tanini A; Cavalli L; Brandi ML
Eur J Endocrinol; 2012 May; 166(5):933-40. PubMed ID: 22315359
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia.
Lin CM; Ding YX; Huang SM; Chen YC; Lee HJ; Sung CC; Lin SH
Front Endocrinol (Lausanne); 2024; 15():1291160. PubMed ID: 38487341
[TBL] [Abstract][Full Text] [Related]
16. A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.
Mastromatteo E; Lamacchia O; Campo MR; Conserva A; Baorda F; Cinque L; Guarnieri V; Scillitani A; Cignarelli M
BMC Endocr Disord; 2014 Oct; 14():81. PubMed ID: 25292184
[TBL] [Abstract][Full Text] [Related]
17. Heterozygous Mutation (Q459R) in the Calcium-Sensing Receptor Gene Causes Familial Hypocalciuric Hypercalcemia 1 (FHH1).
Boisen IM; Mos I; Lerche-Black EM; Juul A; Bräuner-Osborne H; Blomberg Jensen M
J Clin Endocrinol Metab; 2020 Apr; 105(4):. PubMed ID: 32160303
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
Mayr B; Schnabel D; Dörr HG; Schöfl C
Eur J Endocrinol; 2016 May; 174(5):R189-208. PubMed ID: 26646938
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]