Pearce S.H.S., Thakker R.V.Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs.Garrett J.E., Capuano I.V., Hammerland L.G., Hung B.C., Brown E.M., Hebert S.C., Nemeth E.F., Fuller F.J. Biol. Chem. 270:12919-12925(1995)
Molecular cloning of a putative Ca(2+)
-sensing receptor cDNA from human kidney.Aida K., Koishi S., Tawata M., Onaya T.Biochem. Biophys. Res. Commun. 214:524-529(1995)
Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion.Freichel M., Zink-Lorenz A., Holloschi A., Hafner M., Flockerzi V., Raue F.Endocrinology 137:3842-3848(1996)
SeattleSNPs variation discovery resource
Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)
-sensing receptor gene.Aida K., Koishi S., Inoue M., Nakazato M., Tawata M., Onaya T.J. Clin. Endocrinol. Metab. 80:2594-2598(1995)
Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor.Bikle D.D., Ratnam A., Mauro T., Harris J., Pillai S.J. Clin. Invest. 97:1085-1093(1996)
Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin.Huang Y., Niwa J., Sobue G., Breitwieser G.E.J. Biol. Chem. 281:11610-11617(2006)
Rab1 small GTP-binding protein regulates cell surface trafficking of the human calcium-sensing receptor.Zhuang X., Adipietro K.A., Datta S., Northup J.K., Ray K.Endocrinology 151:5114-5123(2010)
Mutations in the human Ca(2+)
-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.Pollak M.R., Brown E.M., Chou Y.-H.W., Hebert S.C., Marx S.J., Steinmann B., Levi T., Seidman C.E., Seidman J.G.Cell 75:1297-1303(1993)
Autosomal dominant hypocalcaemia caused by a Ca(2+)
-sensing receptor gene mutation.Pollak M.R., Brown E.M., Estep H.L., McLaine P.N., Kifor O., Park J., Hebert S.C., Seidman C.E., Seidman J.G.Nat. Genet. 8:303-307(1994)
Mutations in the human Ca(2+)
-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.Chou Y.-H.W., Pollak M.R., Brandi M.L., Toss G., Arnqvist H., Atkinson A.B., Papapoulos S.E., Marx S., Brown E.M., Seidman J.G., Seidman C.E.Am. J. Hum. Genet. 56:1075-1079(1995)
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.Pearce S.H.S., Trump D., Wooding C., Besser G.M., Chew S.L., Grant D.B., Heath D.A., Hughes I.A., Paterson C.R., Whyte M.P., Thakker R.V.J. Clin. Invest. 96:2683-2692(1995)
The Ca(2+)
-sensing receptor gene (PCAR1)
mutation T151M in isolated autosomal dominant hypoparathyroidism.Lovlie R., Eiken H.G., Sorheim J.I., Boman H.Hum. Genet. 98:129-133(1996)
Mutations in the Ca(2+)
-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.Baron J., Winer K.K., Yanovski J.A., Cunningham A.W., Laue L., Zimmerman D., Cutler G.B. Jr.Hum. Mol. Genet. 5:601-606(1996)
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.Pearce S.H.S., Williamson C., Kifor O., Bai M., Coulthard M.G., Davies M., Lewis-Barned N., McCredie D., Powell H., Kendall-Taylor P., Brown E.M., Thakker R.V.N. Engl. J. Med. 335:1115-1122(1996)
A novel mutation (L174R)
in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.Ward B.K., Stuckey B.G.A., Gutteridge D.H., Laing N.G., Pullan P.T., Ratajczak T.3.3.CO;2-G>Hum. Mutat. 10:233-235(1997)
Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)
-sensing receptor.De Luca F., Ray K., Mancilla E.E., Fan G.-F., Winer K.K., Gore P., Spiegel A.M., Baron J.J. Clin. Endocrinol. Metab. 82:2710-2715(1997)
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. 82:2716-2719(1997)
Familial hypoparathyroidism
identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.Watanabe T., Bai M., Lane C.R., Matsumoto S., Minamitani K., Minagawa M., Niimi H., Brown E.M., Yasuda T.J. Clin. Endocrinol. Metab. 83:2497-2502(1998)
An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.Chikatsu N., Fukumoto S., Suzawa M., Tanaka Y., Takeuchi Y., Takeda S., Tamura Y., Matsumoto T., Fujita T.Clin. Endocrinol. (Oxf.)
50:537-543(1999)
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.Okazaki R., Chikatsu N., Nakatsu M., Takeuchi Y., Ajima M., Miki J., Fujita T., Arai M., Totsuka Y., Tanaka K., Fukumoto S.J. Clin. Endocrinol. Metab. 84:363-366(1999)
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.Stock J.L., Brown R.S., Baron J., Coderre J.A., Mancilla E., De Luca F., Ray K., Mericq M.V.J. Clin. Endocrinol. Metab. 84:3036-3040(1999)
A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.Cole D.E.C., Peltekova V.D., Rubin L.A., Hawker G.A., Vieth R., Liew C.C., Hwang D.M., Evrovski J., Hendy G.N.Lancet 353:112-115(1999)
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.Carling T., Szabo E., Bai M., Ridefelt P., Westin G., Gustavsson P., Trivedi S., Hellman P., Brown E.M., Dahl N., Rastad J.J. Clin. Endocrinol. Metab. 85:2042-2047(2000)
A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.Nakayama T., Minato M., Nakagawa M., Soma M., Tobe H., Aoi N., Kosuge K., Sato M., Ozawa Y., Kanmatsuse K., Kokubun S.Endocrine 15:277-282(2001)
Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene.Cole D.E.C., Vieth R., Trang H.M., Wong B.Y.-L., Hendy G.N., Rubin L.A.Mol. Genet. Metab. 72:168-174(2001)
A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium
identification of a novel gain of function mutation (Ser(820)
Phe)
in the calcium-sensing receptor.Nagase T., Murakami T., Tsukada T., Kitamura R., Chikatsu N., Takeo H., Takata N., Yasuda H., Fukumoto S., Tanaka Y., Nagata N., Yamaguchi K., Akatsu T., Yamamoto M.J. Clin. Endocrinol. Metab. 87:2681-2687(2002)
Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.Sato K., Hasegawa Y., Nakae J., Nanao K., Takahashi I., Tajima T., Shinohara N., Fujieda K.J. Clin. Endocrinol. Metab. 87:3068-3073(2002)
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 360:692-694(2002)
Autosomal dominant hypocalcemia
a novel activating mutation (E604K)
in the cysteine-rich domain of the calcium-sensing receptor.Tan Y.M., Cardinal J., Franks A.H., Mun H.-C., Lewis N., Harris L.B., Prins J.B., Conigrave A.D.J. Clin. Endocrinol. Metab. 88:605-610(2003)
Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.Hendy G.N., Minutti C., Canaff L., Pidasheva S., Yang B., Nouhi Z., Zimmerman D., Wei C., Cole D.E.C.J. Clin. Endocrinol. Metab. 88:3674-3681(2003)
Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor.Scillitani A., Guarnieri V., De Geronimo S., Muscarella L.A., Battista C., D'Agruma L., Bertoldo F., Florio C., Minisola S., Hendy G.N., Cole D.E.C.J. Clin. Endocrinol. Metab. 89:5634-5638(2004)
Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.Miyashiro K., Kunii I., Manna T.D., de Menezes Filho H.C., Damiani D., Setian N., Hauache O.M.J. Clin. Endocrinol. Metab. 89:5936-5941(2004)
Genetic testing in familial isolated hyperparathyroidism
unexpected results and their implications.Warner J., Epstein M., Sweet A., Singh D., Burgess J., Stranks S., Hill P., Perry-Keene D., Learoyd D., Robinson B., Birdsey P., Mackenzie E., Teh B.T., Prins J.B., Cardinal J.J. Med. Genet. 41:155-160(2004)
A novel mutation (E767K)
in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.Uckun-Kitapci A., Underwood L.E., Zhang J., Moats-Staats B.Am. J. Med. Genet. A 132:125-129(2005)
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.Pidasheva S., Canaff L., Simonds W.F., Marx S.J., Hendy G.N.Hum. Mol. Genet. 14:1679-1690(2005)
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 G.N.J. Clin. Endocrinol. Metab. 90:864-870(2005)
Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor.Leech C., Lohse P., Stanojevic V., Lechner A., Goeke B., Spitzweg C.Biochem. Biophys. Res. Commun. 342:996-1002(2006)
A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene
successful treatment with recombinant human parathyroid hormone.Mittelman S.D., Hendy G.N., Fefferman R.A., Canaff L., Mosesova I., Cole D.E., Burkett L., Geffner M.E.J. Clin. Endocrinol. Metab. 91:2474-2479(2006)
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 P.D., Goltzman D., Hendy G.N.J. Clin. Endocrinol. Metab. 92:2616-2623(2007)
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 P.H., Christensen S.E., Heickendorff L., Brixen K., Mosekilde L.J. Clin. Endocrinol. Metab. 92:4373-4379(2007)
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 S.K., Anand A.Ann. Neurol. 64:158-167(2008)
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism
correlation between location of mutations and severity of hypercalcaemia.Hannan F.M., Nesbit M.A., Christie P.T., Lissens W., Van der Schueren B., Bex M., Bouillon R., Thakker R.V.Clin. Endocrinol. (Oxf.)
73:715-722(2010)
Familial hypocalciuric hypercalcemia
new mutation in the CASR gene converting valine 697 to methionine.Aparicio Lopez C., Anton-Martin P., Gil-Fournier B., Ramiro-Leon S., Perez-Nanclares G., Perez de Nanclares G., Martinez Menendez B., Castano L.Eur. J. Pediatr. 171:147-150(2012)
+Additional computationally mapped references.<p>Provides general information on the entry.
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