CASR Protein for Human(Homo sapiens) | EIAab.comCASR Protein for Human(Homo sapiens)

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CASR (Gene name),

Extracellular calcium-sensing receptor (Protein name ), CASR_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

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Gene name:

CASR(GPRC2A;PCAR1);

Protein name:

Extracellular calcium-sensing receptor(CaSR);

Alternative:

Parathyroid cell calcium-sensing receptor(PCaR1);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with VCP and RNF19A. Interacts with ARRB1.

Function:

Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system.

Subcellular Location:

Cell membrane Multi-pass membrane protein

Protein Attributes:

Sequence length:

1078

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

950:

1000:

1050:

1078:

SPALVVSSSQ | SFVISGGGST | VTENVVNS

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

String:

P41180

UniGene:

Hs.435615

MIM:

145980

Pfam:

PF00003

STRING:

9606.ENSP00000296154

KEGG:

hsa:846

SMR:

P41180

Uniprot:

P41180

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ELISA Kit for Human CaSR

Cat.:

E1510b

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96T

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ELISA Kit for Human CaSR

Cat.:

E1510m

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96T

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ELISA Kit for Human CaSR

Cat.:

E1510h

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96T

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ELISA Kit for Human CaSR

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ELISA Kit for Human CaSR

Cat.:

E1510r

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96T

CLIA Kit for Human CaSR

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CLIA Kit for Human CaSR

Cat.:

U1510b

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Packing:

96T

CLIA Kit for Human CaSR

Cat.:

U1510h

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MSDS:

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Packing:

96T

CLIA Kit for Human CaSR

Cat.:

U1510m

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MSDS:

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Packing:

96T

CLIA Kit for Human CaSR

Cat.:

U1510r

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96T

Polyclonal Antibody for Human CaSR

Cat.:

P1510Rb-m

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40ug/0.2ml

Polyclonal Antibody for Human CaSR

Cat.:

P1510Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human CaSR

Cat.:

P1510Rb-r

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Polyclonal Antibody for Human CaSR

Monoclonal Antibody for Human CaSR

Protein for Human CaSR

R&D Technical Data

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Precision

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Recovery

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Linearity

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References

1.

Pearce S.H.S. , Thakker R.V.
Submitted (1994-12) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
2.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2);VARIANT GLY-990
tissue: Parathyroid.
3.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
tissue: Kidney.
4.

"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.
Endocrinology137:3842-3848(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
5.

SeattleSNPs variation discovery resource
Submitted (2005-06) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS SER-986; GLY-990 AND GLU-1011
6.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue: Brain.
7.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-61;VARIANT HHC1 ALA-39
8.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 643-908
9.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH VCP AND RNF19A;GLYCOSYLATION;UBIQUITINATION
10.

"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.
Endocrinology151:5114-5123(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;GLYCOSYLATION
11.

"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.
Cell75:1297-1303(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HHC1 GLN-185; LYS-297 AND TRP-795
12.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HYPOC1 ALA-127
13.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HHC1 MET-62; CYS-66; MET-138; GLU-143 AND GLN-227
14.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NSHPT LEU-227 AND TYR-582
15.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FIH MET-151
16.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HYPOC1 THR-116; HIS-681 AND SER-806;VARIANT SER-851
17.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HYPOC1 LYS-118; LEU-128; MET-151; LYS-191 AND SER-612;CHARACTERIZATION OF VARIANTS HYPOC1 LEU-128; MET-151 AND LYS-191
18.

"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.
Hum. Mutat.10:233-235(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HHC1 ARG-174
19.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HYPOC1 LYS-118; ARG-773 AND SER-806;CHARACTERIZATION OF VARIANTS HYPOC1 LYS-118; ARG-773 AND SER-806
20.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NSHPT GLU-670
21.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HYPOC1 CYS-788;CHARACTERIZATION OF VARIANT HYPOC1 CYS-788
22.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARG-27;CHARACTERIZATION OF VARIANT ARG-27;INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM
23.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HYPOC1 ASN-47;CHARACTERIZATION OF VARIANT HYPOC1 ASN-47
24.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HYPOC1 VAL-616;CHARACTERIZATION OF VARIANT HYPOC1 VAL-616
25.

"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.
Lancet353:112-115(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SER-986;ASSOCIATION WITH SERUM LEVEL OF CALCIUM
26.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HYPERCALCIURIC HYPERCALCEMIA LEU-881;CHARACTERIZATION OF VARIANT HYPERCALCIURIC HYPERCALCEMIA LEU-881
27.

"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.
Endocrine15:277-282(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HHC1 GLU-557
28.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SER-986;ASSOCIATION WITH SERUM LEVEL OF CALCIUM;PREDISPOSING FACTOR IN DISORDERS OF BONE AND MINERAL METABOLISM
29.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HYPOC1 PHE-820;CHARACTERIZATION OF VARIANT HYPOC1 PHE-820;VARIANT GLY-990
30.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HYPOC1 PRO-125 AND GLU-843;CHARACTERIZATION OF VARIANTS HYPOC1 PRO-125 AND GLU-843
31.

"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.
Lancet360:692-694(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HYPOC1 TRP-131 AND GLU-843
32.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HYPOC1 LYS-604;CHARACTERIZATION OF VARIANT HYPOC1 LYS-604
33.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HYPOC1 LEU-788;CHARACTERIZATION OF VARIANT HYPOC1 LEU-788
34.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS SER-986; GLY-990 AND GLU-1011;ASSOCIATION WITH SERUM LEVEL OF CALCIUM
35.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HHC1 PRO-13;CHARACTERIZATION OF VARIANT HHC1 PRO-13
36.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ILE-100; LYS-336 DEL; PRO-650; MET-689; SER-986; GLY-990 AND GLU-1011;INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM
37.

"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. A132:125-129(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HYPOC1 LYS-767;VARIANT GLY-990
38.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HHC1 SER-11 AND PRO-13;VARIANT ALA-14;CHARACTERIZATION OF VARIANTS HHC1 SER-11 AND PRO-13;CHARACTERIZATION OF VARIANT ALA-14
39.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HHC1 GLN-227;CHARACTERIZATION OF VARIANT NSHPT LEU-227;CHARACTERIZATION OF VARIANT HHC1 GLN-227
40.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HHC1 GLN-465;CHARACTERIZATION OF VARIANT HHC1 GLN-465;VARIANT SER-986
41.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HYPOC1 GLN-727;CHARACTERIZATION OF VARIANT HYPOC1 GLN-727
42.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HHC1 CYS-180;CHARACTERIZATION OF VARIANT HHC1 CYS-180
43.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HHC1 ARG-21; ASN-171; GLN-221; THR-225; PHE-271; ARG-397; ARG-509; ARG-553; VAL-555; TYR-562; PHE-582; TYR-582; ASP-623; ARG-670; PHE-728; ARG-742 AND TRP-886;VARIANTS LYS-250; SER-986; GLY-990 AND GLU-1011
44.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EIG8 ALA-354; VAL-686; GLN-898; VAL-988 AND GLY-988;VARIANTS SER-986 AND GLY-990;TISSUE SPECIFICITY
45.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT THR-339;CHARACTERIZATION OF VARIANT THR-339;INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM
46.

"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) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HHC1 MET-697

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