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

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

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

http://www.wikidata.org/entity/Q24677024

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Characterization of mutations in patients with multiple endocrine neoplasia type 1.Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43 Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13 Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations New functional aspects of the extracellular calcium-sensing receptor Calcium-sensing receptor 20 years later The calcium-sensing receptor in the breast.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 Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia Cloning and characterization of two promoters for the human calcium-sensing receptor (CaSR) and changes of CaSR expression in parathyroid adenomas.Physiology and pathophysiology of the calcium-sensing receptor in the kidney Identification and dissection of Ca(2+)-binding sites in the extracellular domain of Ca(2+)-sensing receptor.Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.Genetic disorders of calcium and phosphorus metabolism.Hypercalcemia in children and adolescents.Reduced renal calcium excretion in the absence of sclerostin expression: evidence for a novel calcium-regulating bone kidney axis.A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1 Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.The Venus flytrap of periplasmic binding proteins: an ancient protein module present in multiple drug receptors.The calcium-sensing receptor and related diseases.Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.The calcium-sensing receptor: a key factor in the pathogenesis of secondary hyperparathyroidism.Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.The calcium-sensing receptor in normal physiology and pathophysiology: a review.Primary hyperparathyroidism: just how 'primary' is it really?Medical therapy of secondary hyperparathyroidism in chronic kidney disease: old and new drugs.Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.Mammary-specific ablation of the calcium-sensing receptor during lactation alters maternal calcium metabolism, milk calcium transport, and neonatal calcium accrual.Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.Parathyroid hormone-dependent hypercalcemia.Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.Amino acids in the second and third intracellular loops of the parathyroid Ca2+-sensing receptor mediate efficient coupling to phospholipase C.

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P2860

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

http://www.wikidata.org/entity/Q24677024

description

1995 nî lūn-bûn

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1995 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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1995 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1995年の論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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Calcium-sensing receptor mutat ...... d neonatal hyperparathyroidism

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Calcium-sensing receptor mutat ...... d neonatal hyperparathyroidism

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Calcium-sensing receptor mutat ...... d neonatal hyperparathyroidism

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Calcium-sensing receptor mutat ...... d neonatal hyperparathyroidism

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Calcium-sensing receptor mutat ...... d neonatal hyperparathyroidism

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Calcium-sensing receptor mutat ...... d neonatal hyperparathyroidism

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Calcium-sensing receptor mutat ...... d neonatal hyperparathyroidism

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Calcium-sensing receptor mutat ...... d neonatal hyperparathyroidism

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Calcium-sensing receptor mutat ...... d neonatal hyperparathyroidism

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Calcium-sensing receptor mutat ...... d neonatal hyperparathyroidism

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Besser GM

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Chew SL

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Whyte MP

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P2860

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

Coexpression studies with mutant muscarinic/adrenergic receptors provide evidence for intermolecular "cross-talk" between G-protein-linked receptors

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

Cloning and functional expression of a rat kidney extracellular calcium/polyvalent cation-sensing receptor

Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype

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10.1172/JCI118335

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hyperparathyroidism

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