| 1 | CASR, HHC1, HYPOCA
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| Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
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| Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE; Regeneron Genetics Center
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| Am J Hum Genet. Jun 4;106(6):734-747. doi: 10.1016/j.ajhg.2020.04.006. Epub 2020 May 7. 2020
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| 2 | CASR
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| Sensing Extracellular Calcium - An Insight into the Structure and Function of the Calcium-Sensing Receptor (CaSR).
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| Chavez-Abiega S, Mos I, Centeno PP, Elajnaf T, Schlattl W, Ward DT, Goedhart J, Kallay E.
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| Adv Exp Med Biol. 1131:1031-1063. doi: 10.1007/978-3-030-12457-1_41. 2020
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| 3 | CASR
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| CaSR Induces Osteoclast Differentiation and Promotes Bone Metastasis in Lung Adenocarcinoma.
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| Liu L, Fan Y, Chen Z, Zhang Y, Yu J.
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| Front Oncol. Mar 25;10:305. doi: 10.3389/fonc.2020.00305. eCollection 2020 2020
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| 4 | AP2S1, CASR, GNA11
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| In Vitro Control of Genes Critical for Parathyroid Embryogenesis by Extracellular Calcium
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| Fabbri S, Zonefrati R, Galli G, Gronchi G, Perigli G, Borrelli A, Brandi ML.
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| J Endocr Soc. May 25;4(7):bvaa058. doi: 10.1210/jendso/bvaa058. 2020
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| 5 | CASR, HHC1
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| Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals.
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| Nissen PH, Rejnmark L.
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| Clin Endocrinol (Oxf). Nov;91(5):683-690. doi: 10.1111/cen.14078. Epub 2019 Sep 9. 2019
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| 6 | CASR
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| Calcium-sensing receptor (CaSR) promotes development of bone metastasis in renal cell carcinoma.
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| Frees S, Breuksch I, Haber T, Bauer HK, Chavez-Munoz C, Raven P, Moskalev I, D Costa N, Tan Z, Daugaard M, Thüroff JW, Haferkamp A, Prawitt D, So A, Brenner W.
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| Oncotarget Mar 2;9(21):15766-15779. doi: 10.18632/oncotarget.24607. eCollection 2018 Mar 20 2018
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| 7 | CASR
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| Important roles of the Ca2+-sensing receptor in vascular health and disease.
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| Guo Y, Yang X, He J, Liu J, Yang S, Dong H.
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| Life Sci. Sep 15;209:217-227. doi: 10.1016/j.lfs.2018.08.016. Epub 2018 Aug 8 2018
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| 8 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
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| AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia
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| Hovden S, Rejnmark L, Ladefoged SA, Nissen PH.
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| Eur J Endocrinol. Feb;176(2):177-185. doi: 10.1530/EJE-16-0842. Epub 2016 Nov 15. 2017
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| 9 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
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| Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia
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| Szalat A, Shpitzen S, Tsur A, Zalmon Koren I, Shilo S, Tripto-Shkolnik L, Durst R, Leitersdorf E, Meiner V.
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| Endocrine. Mar;55(3):741-747. doi: 10.1007/s12020-017-1241-5. Epub 2017 Feb 7 2017
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| 10 | CASR, NSHPT
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| Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
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| 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.
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| Eur J Endocrinol. Nov;175(5):421-31. doi: 10.1530/EJE-16-0223 2016
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| 11 | CASR, PTH
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| Localization and function of the renal calcium-sensing receptor.
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| Riccardi D, Valenti G.
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| Nat Rev Nephrol. Jul;12(7):414-25. doi: 10.1038/nrneph.2016.59. Epub 2016 May 9 2016
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| 12 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
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| Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
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| 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.
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| J Clin Endocrinol Metab. May;101(5):2185-95. doi: 10.1210/jc.2015-3442. Epub 2016 Mar 10 2016
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| 13 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
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| Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.
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| Hannan FM, Babinsky VN, Thakker RV.
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| J Mol Endocrinol. Oct;57(3):R127-42. doi: 10.1530/JME-16-0124. 2016
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| 14 | CASR, GPR68
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| Reciprocal regulation of two G protein-coupled receptors sensing extracellular concentrations of Ca2+ and H.
|
| Wei WC, Jacobs B, Becker EB, Glitsch MD.
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| Proc Natl Acad Sci U S A 112(34):10738-43. doi: 10.1073/pnas.1506085112.
2015
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| 15 | CASR, GPR39
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| The ZnR/GPR39 interacts with the CaSR to enhance signaling in prostate and salivary epithelia.
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| Asraf H, Salomon S, Nevo A, Sekler I, Mayer D, Hershfinkel M.
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| J Cell Physiol 229(7):868-77. doi: 10.1002/jcp.24514.
2014
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| 16 | CASR
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| The calcium-sensing receptor as a regulator of cellular fate in normal and pathological conditions.
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| Diez-Fraile A, Lammens T, Benoit Y, D'Herde KG.
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| Curr Mol Med 13(2):282-95. Review.
2013
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| 17 | CASR
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| The calcium-sensing receptor is silenced by genetic and epigenetic mechanisms in unfavorable neuroblastomas and its reactivation induces ERK1/2-dependent apoptosis.
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| Casalà C, Gil-Guiñón E, Ordóñez JL, Miguel-Queralt S, Rodríguez E, Galván P, Lavarino C, Munell F, de Alava E, Mora J, de Torres C.
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| Carcinogenesis 34(2):268-76. doi: 10.1093/carcin/bgs338. Epub 2012 Oct 29.
2013
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| 18 | CASR
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| Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.
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| Leach K, Wen A, Davey AE, Sexton PM, Conigrave AD, Christopoulos A.
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| Endocrinology 153(9):4304-16. doi: 10.1210/en.2012-1449. Epub 2012 Jul 13.
2012
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| 19 | CASR, HYPOCA
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| CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
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| Guarnieri V, Valentina D'Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, Copetti M, Battista C, Grimaldi F, Damante G, Pellegrini F, D'Agruma L, Zelante L, Carella M, Scillitani A.
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| Mol Genet Metab 107(3):548-52. doi: 10.1016/j.ymgme.2012.06.012. Epub 2012 Jun 26.
2012
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| 20 | CASR
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| Calcium sensing receptor regulates cardiomyocyte function through nuclear calcium.
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| Zhong X, Liu J, Lu F, Wang Y, Zhao Y, Dong S, Leng X, Jia J, Ren H, Xu C, Zhang W.
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| Cell Biol Int 36(10):937-43. doi: 10.1042/CBI20110594.
2012
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| 21 | CASR
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| Ablation of the calcium-sensing receptor in keratinocytes impairs epidermal differentiation and barrier function.
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| Tu CL, Crumrine DA, Man MQ, Chang W, Elalieh H, You M, Elias PM, Bikle DD.
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| J Invest Dermatol 132(10):2350-9. doi: 10.1038/jid.2012.159. Epub 2012 May 24.
2012
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| 22 | CASR
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| Calcium sensing receptor activation elevates proinflammatory factor expression in human adipose cells and adipose tissue.
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| Cifuentes M, Fuentes C, Tobar N, Acevedo I, Villalobos E, Hugo E, Ben-Jonathan N, Reyes M.
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| Mol Cell Endocrinol 361(1-2):24-30. doi: 10.1016/j.mce.2012.03.006. Epub 2012 Mar 16.
2012
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| 23 | CASR
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| Large putative PEST-like sequence motif at the carboxyl tail of human calcium receptor directs lysosomal degradation and regulates cell surface receptor level.
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| Zhuang X, Northup JK, Ray K.
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| J Biol Chem 287(6):4165-76. doi: 10.1074/jbc.M111.271528. Epub 2011 Dec 12.
2012
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| 24 | CASR
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| The calcium-sensing receptor promotes adipocyte differentiation and adipogenesis through PPARγ pathway.
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| He YH, He Y, Liao XL, Niu YC, Wang G, Zhao C, Wang L, Tian MJ, Li Y, Sun CH.
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| Mol Cell Biochem 361(1-2):321-8. doi: 10.1007/s11010-011-1118-5. Epub 2011 Oct 25.
2012
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| 25 | CASP1, CASR, NLRP3
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| The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.
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| Lee GS, Subramanian N, Kim AI, Aksentijevich I, Goldbach-Mansky R, Sacks DB, Germain RN, Kastner DL, Chae JJ.
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| Nature 492(7427):123-7. doi: 10.1038/nature11588. Epub 2012 Nov 11.
2012
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| 26 | CASR, TES
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| Testin, a novel binding partner of the calcium-sensing receptor, enhances receptor-mediated Rho-kinase signalling.
|
| Magno AL, Ingley E, Brown SJ, Conigrave AD, Ratajczak T, Ward BK.
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| Biochem Biophys Res Commun 412(4):584-9. Epub 2011 Aug 6.
2011
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| 27 | CASR
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| Calcium-sensing receptor and calcium kidney stones.
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| Vezzoli G, Terranegra A, Rainone F, Arcidiacono T, Cozzolino M, Aloia A, Dogliotti E, Cusi D, Soldati L.
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| J Transl Med 9:201. doi: 10.1186/1479-5876-9-201. Review.
2011
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| 28 | CASR
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| Calcium-sensing receptor modulates cell adhesion and migration via integrins.
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| Tharmalingam S, Daulat AM, Antflick JE, Ahmed SM, Nemeth EF, Angers S, Conigrave AD, Hampson DR.
|
| J Biol Chem 286(47):40922-33. doi: 10.1074/jbc.M111.265454. Epub 2011 Oct 3.
2011
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| 29 | CASR, SAR1A
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| Sar1-dependent trafficking of the human calcium receptor to the cell surface.
|
| Zhuang X, Chowdhury S, Northup JK, Ray K.
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| Biochem Biophys Res Commun 396(4):874-80. Epub 2010 May 10. 2010
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| 30 | CASR, HYPOCA
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| Calcium-sensing Receptor (CASR) Mutations and Denaturing High Performance Liquid Chromatography (DHPLC).
|
| Cole D, Yun F, Wong B, Shuen A, Booth R, Scillitani A, Pidasheva S, Zhou X, Canaff L, Hendy G.
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| J Mol Endocrinol Mol Endocrinol. 2009 Jan 29. [Epub ahead of print]
2009
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| 31 | CASR, FIHP, GCM2
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| Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.
|
| Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN.
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| Hum Mutat 30(1):85-92.
2009
|
| 32 | CASR, HHC1
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| 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.
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| J Clin Endocrinol Metab 94(11):4372-9. Epub 2009 Sep 29.PMID: 19789209 2009
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| 33 | CASR
|
| The calcium-sensing receptor regulates parathyroid hormone gene expression in transfected HEK293 cells.
|
| Galitzer H, Lavi-Moshayoff V, Nechama M, Meir T, Silver J, Naveh-Many T.
|
| BMC Biol 7:17.PMID: 19397786 2009
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| 34 | CASR
|
| Extracellular calcium promotes the migration of breast cancer cells through the activation of the calcium sensing receptor.
|
| Saidak Z, Boudot C, Abdoune R, Petit L, Brazier M, Mentaverri R, Kamel S.
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| Exp Cell Res 315(12):2072-80. Epub 2009 Mar 13.PMID: 19285978 2009
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| 35 | CASR
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| The role of the calcium-sensing receptor in the development and progression of cancer.
|
| Saidak Z, Mentaverri R, Brown EM.
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| Endocr Rev 30(2):178-95. Epub 2009 Feb 23. Review.PMID: 19237714 2009
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| 36 | CASR, TRPV5
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| Activation of the Ca2+-sensing receptor stimulates the activity of the epithelial Ca2+ channel TRPV5.
|
| Topala CN, Schoeber JP, Searchfield LE, Riccardi D, Hoenderop JG, Bindels RJ.
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| Cell Calcium 45(4):331-9. Epub 2009 Jan 20.PMID: 19157541 2009
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| 37 | CASR, KCNJ1, NR3C2, SCNN1G, SNN1B
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| Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population.
|
| Tobin MD, Tomaszewski M, Braund PS, Hajat C, Raleigh SM, Palmer TM, Caulfield M, Burton PR, Samani NJ.
|
| Hypertension 51(6):1658-64. Epub 2008 Apr 28.
2008
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| 38 | CASR, EIG8
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| An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.
|
| Kapoor A, Satishchandra P, Ratnapriya R, Reddy R, Kadandale J, Shankar SK, Anand A.
|
| Ann Neurol 64(2):158-67.
2008
|
| 39 | CASR,HHC1
|
| 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 92(7):2616-23. Epub 2007 May 1. 2007
|
| 40 | HHC1, CASR
|
| Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a danish population.
|
| Nissen PH, Christensen SE, Heickendorff L, Brixen K, Mosekilde L.
|
| J Clin Endocrinol Metab 92(11):4373-9. Epub 2007 Aug 14. 2007
|
| 41 | CASR, KCNJ10, KCNJ15
|
| Interaction of the Ca2+-sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function.
|
| Huang C, Sindic A, Hill CE, Hujer KM, Chan KW, Sassen M, Wu Z, Kurachi Y, Nielsen S, Romero MF, Miller RT.
|
| Am J Physiol Renal Physiol 292(3):F1073-81. Epub 2006 Nov 22.
2007
|
| 42 | NSHPT, CASR, HHC1
|
| Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.
|
| Pidasheva S, Grant M, Canaff L, Ercan O, Kumar U, Hendy GN.
|
| Hum Mol Genet 15(14):2200-9. Epub 2006 Jun 1. 2006
|
| 43 | STAMBP, CASR
|
| AMSH regulates calcium-sensing receptor signaling through direct interactions.
|
| Herrera-Vigenor F, Hernandez-Garcia R, Valadez-Sanchez M, Vazquez-Prado J, Reyes-Cruz G.
|
| Biochem Biophys Res Commun 347(4):924-30. Epub 2006 Jul 7. 2006
|
| 44 | CASR, HYPOCA, HYPOCAB
|
| Hypocalciuric hypercalcemia presenting as neonatal rib fractures: a newly described mutation of the calcium-sensing receptor gene.
|
| Nyweide K, Feldman KW, Gunther DF, Done S, Lewis C, Van Eenwyk C.
|
| Pediatr Emerg Care 22(11):722-4. 2006
|
| 45 | CASR
|
| Biophysical properties of the extra-cellular domain of the calcium-sensing receptor.
|
| Ryan ZC, Craig TA, Venyaminov SY, Thompson JR, Kumar R.
|
| Biochem Biophys Res Commun 349(1):339-44. Epub 2006 Aug 17. 2006
|
| 46 | SPINK1, CASR
|
| Mutations in the calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis?
|
| Felderbauer P, Klein W, Bulut K, Ansorge N, Dekomien G, Werner I, Epplen JT, Schmitz F, Schmidt WE.
|
| Scand J Gastroenterol 41(3):343-8. 2006
|
| 47 | CASR, HHC1
|
| Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.
|
| Ward BK, Magno AL, Blitvich BJ, Rea AJ, Stuckey BG, Walsh JP, Ratajczak T.
|
| Clin Endocrinol (Oxf) 64(5):580-7. 2006
|
| 48 | NSHPT, HHC1, CASR
|
| Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
|
| Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN.
|
| Hum Mol Genet 14(12):1679-90. Epub 2005 May 6. 2005
|
| 49 | CASR, NSHPT, HHC1
|
| Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
|
| Wystrychowski A, Pidasheva S, Canaff L, Chudek J, Kokot F, Wiecek A, Hendy GN.
|
| J Clin Endocrinol Metab 90(2):864-70. Epub 2004 Nov 30. 2005
|
| 50 | HYPOCA, CASR
|
| A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.
|
| Burren CP, Curley A, Christie P, Rodda CP, Thakker RV.
|
| J Pediatr Endocrinol Metab 18(7):689-99. 2005
|
| 51 | CASR, HPT2
|
| A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.
|
| Shiohara M, Mori T, Mei B, Brown EM, Watanabe T, Yasuda T.
|
| Eur J Pediatr 163(2):94-8. Epub 2003 Dec 16. 2004
|
| 52 | PTH, CASR, HYPOCA
|
| A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms.
|
| Alvarez-Hernandez D, Santamaria I, Rodriguez-Garcia M, Iglesias P, Delgado-Lillo R, Cannata-Andia JB.
|
| J Mol Endocrinol 31(2):255-62. 2003
|
| 53 | NSHPT, CASR
|
| Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.
|
| D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DE, Hendy GN.
|
| J Clin Endocrinol Metab 87(3):1309-18. 2002
|
| 54 | CASR, HYPOCA
|
| Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain.
|
| Hu J, Mora S, Colussi G, Proverbio MC, Jones KA, Bolzoni L, De Ferrari ME, Civati G, Spiegel AM.
|
| J Bone Miner Res 17(8):1461-9. 2002
|
| 55 | HYPOCAB, CASR
|
| Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome.
|
| Vargas-Poussou R, Huang C, Hulin P, Houillier P, Jeunemaitre X, Paillard M, Planelles G, Dechaux M, Miller RT, Antignac C.
|
| J Am Soc Nephrol 13(9):2259-66. 2002
|
| 56 | CASR, HYPOCAB
|
| Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.
|
| Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T.
|
| Lancet 360(9334):692-4. 2002
|
| 57 | CASR
|
| Association between Total Serum Calcium and the A986S Polymorphism of the Calcium-Sensing Receptor Gene.
|
| Cole DE, Vieth R, Trang HM, Wong BY, Hendy GN, Rubin LA.
|
| Mol Genet Metab 72(2):168-74. 2001
|
| 58 | CASR
|
| An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
|
| D'Souza-Li L, Canaff L, Janicic N, Cole DE, Hendy GN.
|
| Hum Mutat 18(5):411-21. 2001
|
| 59 | CASR
|
| Cloning and characterization of two promoters for the human calcium-sensing receptor (CaSR) and changes of CaSR expression in parathyroid adenomas.
|
| Chikatsu N, Fukumoto S, Takeuchi Y, Suzawa M, Obara T, Matsumoto T, Fujita T.
|
| J Biol Chem 275(11):7553-7. 2000
|
| 60 | CASR, HHC1, HYPOCA, NSHPT
|
| 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 16(4):281-96. 2000
|
| 61 | CASR, HHC1
|
| Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia
|
| Conley YP, Finegold DN, Peters DG, Cook JS, Oppenheim DS, Ferrell RE.
|
| Mol Genet Metab 71(4):591-8. 2000
|
| 62 | CASR, HYPOCA
|
| A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.
|
| Lienhardt A, Garabedian M, Bai M, Sinding C, Zhang Z, Lagarde JP, Boulesteix J, Rigaud M, Brown EM, Kottler ML.
|
| J Clin Endocrinol Metab 85(4):1695-702. 2000
|
| 63 | CASR, HYPOCA
|
| A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
|
| Okazaki R, et al.
|
| J Clin Endocrinol Metab 84(1):363-6. 1999
|
| 64 | CASR
|
| The G-Protein-Coupled, Extracellular Ca(2+)-Sensing Receptor: Expression in Pancreatic Islet B-Cells and Possible Role in the Regulation of Insulin Release.
|
| Rasschaert J, et al.
|
| Mol Genet Metab 68(2):328-331. No abstract available 1999
|
| 65 | CASR, NSHPT
|
| Familial hypoparathyroidism : identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
|
| Watanabe T, et al.
|
| J Clin Endocrinol Metab 83 : 2497-2502. 1998
|
| 66 | CASR
|
| Activating mutations of the Ca2+-sensing receptor.
|
| Mancilla EE, De Luca F, Baron J.
|
| Mol Genet Metab 64 : 198-204. 1998
|
| 67 | CASR, NSHPT
|
| Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.
|
| Kobayashi M, Tanaka H, Tsuzuki K, Tsuyuki M, Igaki H, Ichinose Y, Aya K, Nishioka N, Seino Y.
|
| J Clin Endocrinol Metab 82(8):2716-9. 1997
|
| 68 | CASR, HHC1
|
| A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.
|
| Ward BK, Stuckey BG, Gutteridge DH, Laing NG, Pullan PT, Ratajczak T.
|
| Hum Mutat 10(3):233-5. No abstract available. 1997
|
| 69 | CASR, HPT2
|
| A Ca(2+)-sensing receptor mutation causes hypoparathyroidism by increasing receptor sensitivity to Ca2+ and maximal signal transduction.
|
| Mancilla EE, De Luca F, Ray K, Winer KK, Fan GF, Baron J.
|
| Pediatr Res 42(4):443-7. 1997
|
| 70 | HPT2, CASR
|
| Mutations in the Ca2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.
|
| Baron J, et al.
|
| Hum Mol Genet 5 : 601-606. 1996
|
| 71 | HPT2, CASR
|
| The Ca2+-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.
|
| Lšvlie R, et al.
|
| Hum Genet 98 : 129-133. 1996
|
| 72 | HHC1, HYPOCA, NSHPT, CASR
|
| Expression and characterization of inactivating and activating mutations in the human Ca2+ o-sensing receptor.
|
| Bai M, et al.
|
| J Biol Chem 271 : 19537-19545. 1996
|
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