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

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

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

http://www.wikidata.org/entity/Q24315110

about

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13 Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism Calcium regulation and bone mineral metabolism in elderly patients with chronic kidney disease The role of claudin in hypercalciuric nephrolithiasis Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.Recent advances in understanding the extracellular calcium-sensing receptor Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis Parallel activation of phosphatidylinositol 4-kinase and phospholipase C by the extracellular calcium-sensing receptor Insights into the molecular nature of magnesium homeostasis Interaction of the Ca2+-sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function 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 Calcium sensing receptor: molecular cloning in rat and localization to nerve terminals Extracellular calcium-sensing receptor is expressed in rat hepatocytes. coupling to intracellular calcium mobilization and stimulation of bile flow Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.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.The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone.Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion Paradoxical block of parathormone secretion is mediated by increased activity of G alpha subunits.Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene Physiology and pathophysiology of the calcium-sensing receptor in the kidney Comparison 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.Calcium-sensing receptor expression and signalling in human parathyroid adenomas and primary hyperplasia.A physiologic-based approach to the evaluation of a patient with hyperphosphatemia Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia.Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.Extracellular calcium-sensing receptor: structural and functional features and association with diseases.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.Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia Genetic variations in human G protein-coupled receptors: implications for drug therapy.Profile of Steven C. Hebert.Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.The calcium-sensing receptor and related diseases.Polymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma.Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function

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

http://www.wikidata.org/entity/Q24315110

description

1994 nî lūn-bûn

@nan

1994 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

1994 թվականի նոյեմբերին հրատարակված գիտական հոդված

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1994年の論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年论文

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name

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

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

@en

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

@en-gb

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

@nl

type

label

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

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

@en

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

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

@nl

prefLabel

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

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

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

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

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Nature Genetics

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

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C E Seidman

http://www.w3.org/2001/XMLSchema#string

E M Brown

http://www.w3.org/2001/XMLSchema#string

H L Estep

http://www.w3.org/2001/XMLSchema#string

J G Seidman

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J Park

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M R Pollak

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O Kifor

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P N McLaine

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S C Hebert

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P2860

Inositol trisphosphate and calcium signalling

Cloning and expression of an inwardly rectifying ATP-regulated potassium channel

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

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

A second-generation linkage map of the human genome.

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas.

Relation between intracellular Ca2+ signals and Ca(2+)-activated Cl- current in Xenopus oocytes.

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scholarly article

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10.1038/NG1194-303

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3

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8

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7874174

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phosphatidylinositol phospholipase C activity

Calcium sensing receptor