419 related articles for article (PubMed ID: 23802516)
21. 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]
22. 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]
23. 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]
24. Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.
Hendy GN; Canaff L; Newfield RS; Tripto-Shkolnik L; Wong BY; Lee BS; Cole DE
J Clin Endocrinol Metab; 2014 Jul; 99(7):E1311-5. PubMed ID: 24731014
[TBL] [Abstract][Full Text] [Related]
25. Knockin mouse with mutant G
Roszko KL; Bi R; Gorvin CM; Bräuner-Osborne H; Xiong XF; Inoue A; Thakker RV; Strømgaard K; Gardella T; Mannstadt M
JCI Insight; 2017 Feb; 2(3):e91079. PubMed ID: 28194446
[TBL] [Abstract][Full Text] [Related]
26. Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.
Hannan FM; Thakker RV
Best Pract Res Clin Endocrinol Metab; 2013 Jun; 27(3):359-71. PubMed ID: 23856265
[TBL] [Abstract][Full Text] [Related]
27. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
Nesbit MA; Hannan FM; Howles SA; Reed AA; Cranston T; Thakker CE; Gregory L; Rimmer AJ; Rust N; Graham U; Morrison PJ; Hunter SJ; Whyte MP; McVean G; Buck D; Thakker RV
Nat Genet; 2013 Jan; 45(1):93-7. PubMed ID: 23222959
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM; Howles SA; Rogers A; Cranston T; Gorvin CM; Babinsky VN; Reed AA; Thakker CE; Bockenhauer D; Brown RS; Connell JM; Cook J; Darzy K; Ehtisham S; Graham U; Hulse T; Hunter SJ; Izatt L; Kumar D; McKenna MJ; McKnight JA; Morrison PJ; Mughal MZ; O'Halloran D; Pearce SH; Porteous ME; Rahman M; Richardson T; Robinson R; Scheers I; Siddique H; Van't Hoff WG; Wang T; Whyte MP; Nesbit MA; Thakker RV
Hum Mol Genet; 2015 Sep; 24(18):5079-92. PubMed ID: 26082470
[TBL] [Abstract][Full Text] [Related]
30. A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
Lietman SA; Tenenbaum-Rakover Y; Jap TS; Yi-Chi W; De-Ming Y; Ding C; Kussiny N; Levine MA
J Clin Endocrinol Metab; 2009 Nov; 94(11):4372-9. PubMed ID: 19789209
[TBL] [Abstract][Full Text] [Related]
31. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Bai M; Janicic N; Trivedi S; Quinn SJ; Cole DE; Brown EM; Hendy GN
J Clin Invest; 1997 Apr; 99(8):1917-25. PubMed ID: 9109436
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 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]
35. Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hannan FM; Nesbit MA; Zhang C; Cranston T; Curley AJ; Harding B; Fratter C; Rust N; Christie PT; Turner JJ; Lemos MC; Bowl MR; Bouillon R; Brain C; Bridges N; Burren C; Connell JM; Jung H; Marks E; McCredie D; Mughal Z; Rodda C; Tollefsen S; Brown EM; Yang JJ; Thakker RV
Hum Mol Genet; 2012 Jun; 21(12):2768-78. PubMed ID: 22422767
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. [Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.].
Michigami T
Clin Calcium; 2017; 27(4):521-527. PubMed ID: 28336828
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Familial hypocalciuric hypercalcemia and related disorders.
Lee JY; Shoback DM
Best Pract Res Clin Endocrinol Metab; 2018 Oct; 32(5):609-619. PubMed ID: 30449544
[TBL] [Abstract][Full Text] [Related]
40. Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation.
Szalat A; Shahar M; Shpitzen S; Nachmias B; Munter G; Gillis D; Durst R; Mevorach D; Leitersdorf E; Meiner V; Rosen H
Endocrine; 2015 Mar; 48(2):444-53. PubMed ID: 25091521
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
