| 1 | AP2S1, APP
|
| AP2S1 regulates APP degradation through late endosome-lysosome fusion in cells and APP/PS1 mice
|
| Wen QX, Luo B, Xie XY, Zhou GF, Chen J, Song L, Liu Y, Xie SQ, Chen L, Li KY, Xiang XJ, Chen GJ.
|
| Traffic. Jan;24(1):20-33. doi: 10.1111/tra.12874. Epub 2022 Dec 13. 2023
|
| 2 | AP2S1, HHC3
|
| Familial hypocalciuric hypercalcaemia type 3: AP2S1 missense mutation
|
| Kerut S, Kovvuru KR, Yanes-Cardozo L, Garla VV.
|
| BMJ Case Rep. Nov 9;13(11):e236631. doi: 10.1136/bcr-2020-236631. 2020
|
| 3 | AP2S1, CASR, GNA11
|
| In Vitro Control of Genes Critical for Parathyroid Embryogenesis by Extracellular Calcium
|
| Fabbri S, Zonefrati R, Galli G, Gronchi G, Perigli G, Borrelli A, Brandi ML.
|
| J Endocr Soc. May 25;4(7):bvaa058. doi: 10.1210/jendso/bvaa058. 2020
|
| 4 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
|
| AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia
|
| Hovden S, Rejnmark L, Ladefoged SA, Nissen PH.
|
| Eur J Endocrinol. Feb;176(2):177-185. doi: 10.1530/EJE-16-0842. Epub 2016 Nov 15. 2017
|
| 5 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
|
| 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. Mar;55(3):741-747. doi: 10.1007/s12020-017-1241-5. Epub 2017 Feb 7 2017
|
| 6 | AP2S1
|
| N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice
|
| Gorvin CM, Rogers A, Stewart M, Paudyal A, Hough TA, Teboul L, Wells S, Brown SD, Cox RD, Thakker RV.
|
| JBMR Plus May 2;1(1):3-15. doi: 10.1002/jbm4.10001. 2017
|
| 7 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
|
| 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. May;101(5):2185-95. doi: 10.1210/jc.2015-3442. Epub 2016 Mar 10 2016
|
| 8 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
|
| 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. Oct;57(3):R127-42. doi: 10.1530/JME-16-0124. 2016
|
| 9 | AP2S1, HHC3
|
| 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. Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16. 2015
|
| 10 | AP2S1
|
| 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. Mar;99(3):E469-73. doi: 10.1210/jc.2013-3136. Epub 2014 Jan 1. 2014
|
| 11 | AP2S1, HHC3
|
| 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. Jan;45(1):93-7. doi: 10.1038/ng.2492. Epub 2012 Dec 9. 2012
|
| 12 | AP2S1
|
| A novel spliced transcript of human CLAPS2 encoding a protein alternative to clathrin adaptor protein AP17.
|
| Holzmann K, Poltl A, Sauermann G.
|
| Gene 220 : 39-44. 1998
|
| 13 | AP2S1, AP3S2
|
| AP-3: an adaptor-like protein complex with ubiquitous expression.
|
| Dell'Angelica EC, Ohno H, Ooi CE, Rabinovich E, Roche KW, Bonifacino JS.
|
| EMBO J 16(5):917-28 1997
|
| 14 | AP2S1
|
| Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex : cDNA cloning and chromosomal assignment to 19q13.2-q13.3.
|
| Winterpacht A, et al.
|
| Cytogenet Cell Genet 75 : 132-135. 1996
|