Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. - Wikidata - wikimedia - TriplyDB

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

http://www.wikidata.org/entity/Q33919801

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Gene discovery and the genetic basis of calcium consumption Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor The Calcium-Sensing Receptor and the Parathyroid: Past, Present, Future The calcium-sensing receptor affects fat accumulation via effects on antilipolytic pathways in adipose tissue of rats fed low-calcium diets Magnesium stimulates renal phosphate reabsorption Extracellular calcium-sensing receptor is expressed in rat hepatocytes. coupling to intracellular calcium mobilization and stimulation of bile flow Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.Naturally-occurring mutation in the calcium-sensing receptor reveals the significance of extracellular domain loop III region for class C G-protein-coupled receptor function.Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.Physiology and pathophysiology of the calcium-sensing receptor in the kidney Clinical and molecular genetics of parathyroid neoplasms Extracellular calcium sensing receptor stimulation in human colonic epithelial cells induces intracellular calcium oscillations and proliferation inhibition The calcium-sensing receptor and related diseases.Polymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma.A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.Negative cross-talk between calcium-sensing receptor and β-catenin signaling systems in colonic epithelium Extracellular calcium depletion in synaptic transmission.The calcium-sensing receptor in normal physiology and pathophysiology: a review.Isolation, Characterization, Cryopreservation of Human Amniotic Stem Cells and Differentiation to Osteogenic and Adipogenic Cells.The G protein-coupled receptors: pharmacogenetics and disease.Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.Genetic causes of hypercalciuric nephrolithiasis.Association between calcium sensing receptor gene polymorphisms and chronic pancreatitis in a US population: role of serine protease inhibitor Kazal 1type and alcohol.Parathyroid-specific interaction of the calcium-sensing receptor and G alpha q.Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia.Calcium-sensing receptor and calcium kidney stones.The calcium sensing receptor: from calcium sensing to signaling.Amino acid-stimulated Ca2+ oscillations produced by the Ca2+-sensing receptor are mediated by a phospholipase C/inositol 1,4,5-trisphosphate-independent pathway that requires G12, Rho, filamin-A, and the actin cytoskeleton.Association of calcium sensing receptor polymorphisms at rs1801725 with circulating calcium in breast cancer patients.Genetic Variants Associated with Circulating Parathyroid Hormone.Global and targeted gene expression and protein content in skeletal muscle of young men following short-term creatine monohydrate supplementation.Genetics of Hyperparathyroidism, Including Parathyroid Cancer.A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.Nonclinical Safety Profile of Etelcalcetide, a Novel Peptide Calcimimetic for the Treatment of Secondary Hyperparathyroidism.Requirement of the TRPC1 cation channel in the generation of transient Ca2+ oscillations by the calcium-sensing receptor.Amino acids and Ca2+ stimulate different patterns of Ca2+ oscillations through the Ca2+-sensing receptor.An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

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P2860

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

http://www.wikidata.org/entity/Q33919801

description

2000 nî lūn-bûn

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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2000 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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Mutations of the calcium-sensi ...... tosomal dominant hypocalcemia.

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Mutations of the calcium-sensi ...... tosomal dominant hypocalcemia.

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Mutations of the calcium-sensi ...... tosomal dominant hypocalcemia.

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Expression cloning of GABA(B) receptors uncovers similarity to metabotropic glutamate receptors

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13

Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

Calcimimetics with potent and selective activity on the parathyroid calcium receptor

In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial beni

A new multigene family of putative pheromone receptors

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