Citations for
1AP2S1, 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
2EIF1AX, GNA11, GNAQ
Frequent GNAQ, GNA11, and EIF1AX Mutations in Iris Melanoma.
Scholz SL, Möller I, Reis H, Süßkind D, van de Nes JAP, Leonardelli S, Schilling B, Livingstone E, Schimming T, Paschen A, Sucker A, Murali R, Steuhl KP, Schadendorf D, Westekemper H, Griewank KG.
Invest Ophthalmol Vis Sci 58(9):3464-3470. doi: 10.1167/iovs.17-21838. 2017
3AP2S1, 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
4AP2S1, 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
5GNA11, GNAQ
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.
Ayturk UM, Couto JA, Hann S, Mulliken JB, Williams KL, Huang AY, Fishman SJ, Boyd TK, Kozakewich HP, Bischoff J, Greene AK, Warman ML.
Am J Hum Genet 98(4):789-95. doi: 10.1016/j.ajhg.2016.03.009. 2016
6GNA11, GNA14
GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation.
Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D; Yale Center for Mendelian Genomics, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA.
Am J Hum Genet 99(2):443-50. doi: 10.1016/j.ajhg.2016.06.010. Epub 2016 Jul 28. 2016
7AP2S1, 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
8AP2S1, 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
9GNA11, GNA14
Subcellular distribution patterns and elevated expression of GNA11 and GNA14 proteins in the lungs of humans with pulmonary arterial hypertension.
Lei W, Chen P, Yue Y, He Y, Shui X, Li G, Zhang L, Huang S, Chen C.
Cell Biol Int 38(9):1041-9. doi: 10.1002/cbin.10292. Epub 2014 May 19. 2014
10BAP1, EIF1AX, GNA11, GNAQ
Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma.
Ewens KG, Kanetsky PA, Richards-Yutz J, Purrazzella J, Shields CL, Ganguly T, Ganguly A.
Invest Ophthalmol Vis Sci 55(8):5160-7. doi: 10.1167/iovs.14-14550. 2014
11GNA11, GNAQ
The Gαq/11 proteins contribute to T lymphocyte migration by promoting turnover of integrin LFA-1 through recycling.
Svensson L, Stanley P, Willenbrock F, Hogg N.
PLoS One 7(6):e38517. doi: 10.1371/journal.pone.0038517. Epub 2012 Jun 11. 2012
12GNA11, NRAS
GNA11 and N-RAS mutations: alternatives for MAPK pathway activating GNAQ mutations in primary melanocytic tumours of the central nervous system.
Gessi M, Hammes J, Lauriola L, Dörner E, Kirfel J, Kristiansen G, Zur Muehlen A, Denkhaus D, Waha A, Pietsch T.
Neuropathol Appl Neurobiol europathol Appl Neurobiol. 2012 Jul 3. doi: 10.1111/j.1365-2990.2012.01288.x. [Epub ahead of print] 2012
13GNA11, GNAQ
Gαq and Gα11 contribute to the maintenance of cellular electrophysiology and Ca2+ handling in ventricular cardiomyocytes.
Pahlavan S, Oberhofer M, Sauer B, Ruppenthal S, Tian Q, Scholz A, Kaestner L, Lipp P.
Cardiovasc Res 95(1):48-58. doi: 10.1093/cvr/cvs162. Epub 2012 May 4. 2012
14ADRBK1, GNA11, GNAQ
Regulation of the epithelial Na+ channel by the RH domain of G protein-coupled receptor kinase, GRK2, and Galphaq/11.
Lee IH, Song SH, Campbell CR, Kumar S, Cook DI, Dinudom A.
J Biol Chem 286(22):19259-69. doi: 10.1074/jbc.M111.239772. Epub 2011 Apr 4. 2011
15GNA11, GNAQ
Mutations in GNA11 in uveal melanoma.
Van Raamsdonk CD, Griewank KG, Crosby MB, Garrido MC, Vemula S, Wiesner T, Obenauf AC, Wackernagel W, Green G, Bouvier N, Sozen MM, Baimukanova G, Roy R, Heguy A, Dolgalev I, Khanin R, Busam K, Speicher MR, O'Brien J, Bastian BC.
N Engl J Med 363(23):2191-9. doi: 10.1056/NEJMoa1000584. Epub 2010 Nov 17. 2010
16GNA11, GNAQ, KISSiR
GPR54 regulates ERK1/2 activity and hypothalamic gene expression in a Gα(q/11) and β-arrestin-dependent manner.
Szereszewski JM, Pampillo M, Ahow MR, Offermanns S, Bhattacharya M, Babwah AV.
PLoS One 5(9):e12964. doi: 10.1371/journal.pone.0012964. 2010
17GNA11, PECAM1
Rapid changes in shear stress induce dissociation of a G alpha(q/11)-platelet endothelial cell adhesion molecule-1 complex.
Otte LA, Bell KS, Loufrani L, Yeh JC, Melchior B, Dao DN, Stevens HY, White CR, Frangos JA.
J Physiol 587(Pt 10):2365-73. Epub 2009 Mar 30.PMID: 19332487 2009
18GNA11, GNAQ
Anaphylactic shock depends on endothelial Gq/G11.
Korhonen H, Fisslthaler B, Moers A, Wirth A, Habermehl D, Wieland T, Schütz G, Wettschureck N, Fleming I, Offermanns S.
J Exp Med 206(2):411-20. doi: 10.1084/jem.20082150. Epub 2009 Jan 26. 2009
19GNA11
Phosphorylation of Galpha11 protein contributes to agonist-induced desensitization of 5-HT2A receptor signaling.
Shi J, Zemaitaitis B, Muma NA.
Mol Pharmacol 71(1):303-13. Epub 2006 Oct 20. 2007
20GNA11
Reduced expression of GNA11 and silencing of MCT1 in human breast cancers.
Asada K, Miyamoto K, Fukutomi T, Tsuda H, Yagi Y, Wakazono K, Oishi S, Fukui H, Sugimura T, Ushijima T.
Oncology 64(4):380-8. 2003
21GNAQ, GNA11, GNA14, VPS13A
Genomic organization of the human galpha14 and galphaq genes and mutation analysis in chorea-acanthocytosis.
Rubio JP, et al.
Genomics 57(1):84-93. 1999
22GNA11, GNA15, GNAT1, GNAT2
Evolution of the mammalian G protein alpha subunit multigene family.
Wilkie TM, et al.
Nat Genet 1 : 85-91. 1992
23GNAQ, GNA11, GNA14
Regulation of polyphosphoinositide-specific phospholipase C activity by purified Gq.
Smrcka AV, et al.
Science 251(4995):804-7. 1991