Diseases associated with the extracellular calcium-sensing receptor.
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Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing ReceptorThe Calcium-Sensing Receptor and the Parathyroid: Past, Present, FutureGcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordiaA novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemiaMechanisms of multimodal sensing by extracellular Ca(2+)-sensing receptors: a domain-based survey of requirements for binding and signallingComparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.A physiologic-based approach to the evaluation of a patient with hyperphosphatemiaCalmodulin regulates Ca2+-sensing receptor-mediated Ca2+ signaling and its cell surface expressionRole of Ca2+ and L-Phe in regulating functional cooperativity of disease-associated "toggle" calcium-sensing receptor mutations.New concepts in calcium-sensing receptor pharmacology and signallingCalcium as an extracellular signalling molecule: perspectives on the Calcium Sensing Receptor in the brain.Impact of GPCRs in clinical medicine: monogenic diseases, genetic variants and drug targetsRegulation of ca(2+) signaling in pulmonary hypertension.Hypoparathyroidism and pseudohypoparathyroidism.Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.Multiple Ca(2+)-binding sites in the extracellular domain of the Ca(2+)-sensing receptor corresponding to cooperative Ca(2+) response.A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor geneActivation of the Ca²+-sensing receptor induces deposition of tight junction components to the epithelial cell plasma membraneCinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.Identification of an L-phenylalanine binding site enhancing the cooperative responses of the calcium-sensing receptor to calcium.Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.The calcium sensing receptor: from calcium sensing to signaling.A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.Treatment of ionized hypercalcemia in 12 cats (2006-2008) using PO-administered alendronate.Calcium-sensing receptor: Role in health and disease.Autosomal dominant hypoparathyroidism with severe hypomagnesemia and hypocalcemia, successfully treated with recombinant PTH and continuous subcutaneous magnesium infusion.Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey.Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.Normalization of serum calcium by cinacalcet in a patient with hypercalcaemia due to a de novo inactivating mutation of the calcium-sensing receptor.New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice.
P2860
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P2860
Diseases associated with the extracellular calcium-sensing receptor.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Diseases associated with the extracellular calcium-sensing receptor.
@ast
Diseases associated with the extracellular calcium-sensing receptor.
@en
type
label
Diseases associated with the extracellular calcium-sensing receptor.
@ast
Diseases associated with the extracellular calcium-sensing receptor.
@en
prefLabel
Diseases associated with the extracellular calcium-sensing receptor.
@ast
Diseases associated with the extracellular calcium-sensing receptor.
@en
P1433
P1476
Diseases associated with the extracellular calcium-sensing receptor.
@en
P304
P356
10.1016/J.CECA.2003.10.010
P577
2004-03-01T00:00:00Z