Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
about
Dominant-negative mutations in the G-protein-coupled alpha-factor receptor map to the extracellular ends of the transmembrane segments.Structural Variation of Alu Element and Human DiseaseCalcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.Calcium-sensing receptor inhibits TGF-β-signaling by decreasing Smad2 phosphorylation.Extracellular calcium-sensing receptor: structural and functional features and association with diseases.Calmodulin regulates Ca2+-sensing receptor-mediated Ca2+ signaling and its cell surface expressionNeonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.Dominant-negative activity of an alpha(1B)-adrenergic receptor signal-inactivating point mutation.Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal functionRegulation of calcium-sensing-receptor trafficking and cell-surface expression by GPCRs and RAMPs.A double mutation in the extracellular Ca2+-sensing receptor's venus flytrap domain that selectively disables L-amino acid sensing.pH Sensing by the calcium-sensing receptor.Protein kinase C (PKC) phosphorylation of the Ca2+ o-sensing receptor (CaR) modulates functional interaction of G proteins with the CaR cytoplasmic tail.Amino acids in the cytoplasmic C terminus of the parathyroid Ca2+-sensing receptor mediate efficient cell-surface expression and phospholipase C activation.Alterations in the sensing and transport of phosphate and calcium by differentiating chondrocytes.Insertion of Alu element responsible for acute intermittent porphyria.Protein kinase C phosphorylation of threonine at position 888 in Ca2+o-sensing receptor (CaR) inhibits coupling to Ca2+ store release.Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.Sodium and ionic strength sensing by the calcium receptor.The carboxyl terminus of the human calcium receptor. Requirements for cell-surface expression and signal transduction.
P2860
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P2860
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on April 1997
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Markedly reduced activity of m ...... al severe hyperparathyroidism.
@en
Markedly reduced activity of m ...... al severe hyperparathyroidism.
@nl
type
label
Markedly reduced activity of m ...... al severe hyperparathyroidism.
@en
Markedly reduced activity of m ...... al severe hyperparathyroidism.
@nl
prefLabel
Markedly reduced activity of m ...... al severe hyperparathyroidism.
@en
Markedly reduced activity of m ...... al severe hyperparathyroidism.
@nl
P2093
P2860
P356
P1476
Markedly reduced activity of m ...... al severe hyperparathyroidism.
@en
P2093
P2860
P304
P356
10.1172/JCI119359
P407
P577
1997-04-01T00:00:00Z