Calciumsensitiver_RezeptorCalcium-sensing_receptorReceptor_sensor_de_calcio%D7%A7%D7%95%D7%9C%D7%98%D7%9F_%D7%9C%D7%A1%D7%99%D7%93%D7%9F%E3%82%AB%E3%83%AB%E3%82%B7%E3%82%A6%E3%83%A0%E6%84%9F%E7%9F%A5%E5%8F%97%E5%AE%B9%E4%BD%93Kalcijum-detektuju%C4%87i_receptorKalcijum-detektuju%C4%87i_receptorCASRQ417801
about
sameAs
P688
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemiaAutosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutationMolecular cloning and functional expression of human parathyroid calcium receptor cDNAsMutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidismTwo novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia.Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.CASR gene activating mutations in two families with autosomal dominant hypocalcemia.A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.Structural mechanism of ligand activation in human calcium-sensing receptor.A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuriaCalcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.Regulation of the calcium-sensing receptor expression by 1,25-dihydroxyvitamin D3, interleukin-6, and tumor necrosis factor alpha in colon cancer cells.Calcium-Sensing Receptor Genotype and Response to Cinacalcet in Patients Undergoing Hemodialysis.
P921
Q24300027-5056E31F-F316-4AAF-9C6C-ABDA243062F4Q24315110-A3E0F45F-C359-4E85-A0B6-B9B4DA723BA7Q24319115-58AF1FF1-0B1B-48BD-B298-DE8DCD3966F0Q24320383-C96DE683-F01C-41FF-91D1-AB48BB13777BQ29465774-C94CF7F0-7CC3-486D-942E-E3467005E21CQ29465778-514125EA-9A27-419B-8701-15CBC089F134Q29465783-9B42F349-1BEA-4C24-A7E6-F5B95FC5777AQ29465785-19062045-82AB-4D38-B0AB-1417405997A4Q29465789-2C947FEC-8DFF-407E-AD9C-01C981764B6CQ29465791-DAC4170A-8A23-45DB-97E5-C6BBC61BC636Q29465795-C21A0C4C-E2A9-400B-A1FC-6DBCCF20FCADQ29465803-C53A0CCE-9D1C-4FF5-B122-61FDBB5F5007Q29465804-447B445A-FBC5-40B3-8B10-5242C608F9F8Q29465805-AD1D1A5C-4E61-4BD5-A5B1-7DD7C46E107EQ29465806-3011A0FF-D632-415C-8BB4-49763CAFC836Q29465814-7BD53423-DE61-4DCF-89D0-283A48B20D9FQ29465816-D9A9CF80-D10F-49C4-817C-64FA8B0427F9Q29465817-3F406EBA-301B-4E45-9DE4-E75290D4D0A9Q29465818-C64652C1-C5D3-4DBB-857E-3919ACF077DCQ38157399-cbc26b61-40b1-f2a9-cebc-180a679d0e50Q43475954-E5491864-0360-4000-B83B-93DC3146EC37
P921
description
Protein
@de
mammalian protein found in Homo sapiens
@en
pattedyrprotein
@nn
protein
@id
protein
@sv
proteinë
@sq
proteïne in Calcium sensing receptor
@nl
protèin
@ace
protéine
@fr
بروتين في الإنسان العاقل
@ar
name
CASR
@uk
Calcium sensing receptor
@en
Calcium sensing receptor
@nl
Calciumsensitiver Rezeptor
@de
Kalcijum-detektujući receptor
@sh
Kalcijum-detektujući receptor
@sr-el
Receptor sensor de calcio
@es
kalsiumfølsam reseptor
@nn
Калцијум-детектујући рецептор
@sr-ec
калцијум-детектујући рецептор
@sr
type
label
CASR
@uk
Calcium sensing receptor
@en
Calcium sensing receptor
@nl
Calciumsensitiver Rezeptor
@de
Kalcijum-detektujući receptor
@sh
Kalcijum-detektujući receptor
@sr-el
Receptor sensor de calcio
@es
kalsiumfølsam reseptor
@nn
Калцијум-детектујући рецептор
@sr-ec
калцијум-детектујући рецептор
@sr
altLabel
CASR
@de
CASR
@en
CaSR
@nn
Calcium Sensing Receptor
@de
EIG8
@sr
GPRC2A
@sr
HHC1
@sr
NSHPT
@sr
PCAR1
@sr
PCaR1
@en
prefLabel
CASR
@uk
Calcium sensing receptor
@en
Calcium sensing receptor
@nl
Calciumsensitiver Rezeptor
@de
Kalcijum-detektujući receptor
@sh
Kalcijum-detektujući receptor
@sr-el
Receptor sensor de calcio
@es
kalsiumfølsam reseptor
@nn
Калцијум-детектујући рецептор
@sr-ec
калцијум-детектујући рецептор
@sr
P129
P637
P680
P681
P682
P705
P352
P486
P6366
P646
P2888
P31
P352
P3827
calcium-sensing-receptors
P486
P6366
P637
NP_001171536
XP_005247894
XP_006713852
XP_016862813
XP_016862814
P646
/m/03bzgth
P672
D12.776.543.750.695.115