526 related articles for article (PubMed ID: 26646938)
1. 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]
2. 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]
3. Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.
Stratta P; Merlotti G; Musetti C; Quaglia M; Pagani A; Izzo C; Radin E; Airoldi A; Baorda F; Palladino T; Leone MP; Guarnieri V
Nephrol Dial Transplant; 2014 Oct; 29(10):1902-9. PubMed ID: 25104082
[TBL] [Abstract][Full Text] [Related]
4. Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
Vargas-Poussou R; Mansour-Hendili L; Baron S; Bertocchio JP; Travers C; Simian C; Treard C; Baudouin V; Beltran S; Broux F; Camard O; Cloarec S; Cormier C; Debussche X; Dubosclard E; Eid C; Haymann JP; Kiando SR; Kuhn JM; Lefort G; Linglart A; Lucas-Pouliquen B; Macher MA; Maruani G; Ouzounian S; Polak M; Requeda E; Robier D; Silve C; Souberbielle JC; Tack I; Vezzosi D; Jeunemaitre X; Houillier P
J Clin Endocrinol Metab; 2016 May; 101(5):2185-95. PubMed ID: 26963950
[TBL] [Abstract][Full Text] [Related]
5. Diseases associated with calcium-sensing receptor.
Vahe C; Benomar K; Espiard S; Coppin L; Jannin A; Odou MF; Vantyghem MC
Orphanet J Rare Dis; 2017 Jan; 12(1):19. PubMed ID: 28122587
[TBL] [Abstract][Full Text] [Related]
6. Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology.
Marx SJ
J Clin Endocrinol Metab; 2017 Nov; 102(11):3933-3936. PubMed ID: 28945857
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.
Hovden S; Rejnmark L; Ladefoged SA; Nissen PH
Eur J Endocrinol; 2017 Feb; 176(2):177-185. PubMed ID: 27913609
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
Rogers A; Nesbit MA; Hannan FM; Howles SA; Gorvin CM; Cranston T; Allgrove J; Bevan JS; Bano G; Brain C; Datta V; Grossman AB; Hodgson SV; Izatt L; Millar-Jones L; Pearce SH; Robertson L; Selby PL; Shine B; Snape K; Warner J; Thakker RV
J Clin Endocrinol Metab; 2014 Jul; 99(7):E1300-5. PubMed ID: 24708097
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
Glaudo M; Letz S; Quinkler M; Bogner U; Elbelt U; Strasburger CJ; Schnabel D; Lankes E; Scheel S; Feldkamp J; Haag C; Schulze E; Frank-Raue K; Raue F; Mayr B; Schöfl C
Eur J Endocrinol; 2016 Nov; 175(5):421-31. PubMed ID: 27666534
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet.
Reh CM; Hendy GN; Cole DE; Jeandron DD
J Clin Endocrinol Metab; 2011 Apr; 96(4):E707-12. PubMed ID: 21289269
[TBL] [Abstract][Full Text] [Related]
16. Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.
Atay Z; Bereket A; Haliloglu B; Abali S; Ozdogan T; Altuncu E; Canaff L; Vilaça T; Wong BY; Cole DE; Hendy GN; Turan S
Bone; 2014 Jul; 64():102-7. PubMed ID: 24735972
[TBL] [Abstract][Full Text] [Related]
17. Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.
Hannan FM; Babinsky VN; Thakker RV
J Mol Endocrinol; 2016 Oct; 57(3):R127-42. PubMed ID: 27647839
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria.
Fujisawa Y; Yamaguchi R; Satake E; Ohtaka K; Nakanishi T; Ozono K; Ogata T
J Clin Endocrinol Metab; 2013 Dec; 98(12):E2022-7. PubMed ID: 24081735
[TBL] [Abstract][Full Text] [Related]
20. Diseases associated with the extracellular calcium-sensing receptor.
Thakker RV
Cell Calcium; 2004 Mar; 35(3):275-82. PubMed ID: 15200151
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]