321 related articles for article (PubMed ID: 24731014)
1. 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]
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. 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]
5. 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]
6. 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]
7. 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]
8. A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by
Wong FCK; Wong WS; Kwok JSS; Tsui TKC; Lau KP; Chan MHM; Yuen YP
F1000Res; 2019; 8():1612. PubMed ID: 31723423
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation.
Tenhola S; Hendy GN; Valta H; Canaff L; Lee BS; Wong BY; Välimäki MJ; Cole DE; Mäkitie O
J Clin Endocrinol Metab; 2015 Jul; 100(7):2515-8. PubMed ID: 25993639
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals.
Nissen PH; Rejnmark L
Clin Endocrinol (Oxf); 2019 Nov; 91(5):683-690. PubMed ID: 31433865
[TBL] [Abstract][Full Text] [Related]
15. Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.
Lambert AS; Grybek V; Francou B; Esterle L; Bertrand G; Bouligand J; Guiochon-Mantel A; Hieronimus S; Voitel D; Soskin S; Magdelaine C; Lienhardt A; Silve C; Linglart A
J Clin Endocrinol Metab; 2014 Mar; 99(3):E469-73. PubMed ID: 24423332
[TBL] [Abstract][Full Text] [Related]
16. Misleading localization by
Mukhtar NN; Abouzied MEM; Alqahtani MH; Hammami MM
BMC Endocr Disord; 2021 Jan; 21(1):20. PubMed ID: 33499837
[TBL] [Abstract][Full Text] [Related]
17. Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.
Nesbit MA; Hannan FM; Graham U; Whyte MP; Morrison PJ; Hunter SJ; Thakker RV
J Clin Endocrinol Metab; 2010 Apr; 95(4):1947-54. PubMed ID: 20133464
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
