(Q33919801)

English

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

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

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

1 reference

Europe PubMed Central

30 July 2017

hyperparathyroidism

1 reference

based on heuristic

inferred from title

familial hypocalciuric hypercalcemia

1 reference

based on heuristic

inferred from title

author name string

Hendy GN

1

1 reference

Europe PubMed Central

30 July 2017

D'Souza-Li L

2

1 reference

Europe PubMed Central

30 July 2017

Yang B

3

1 reference

Europe PubMed Central

30 July 2017

Canaff L

4

1 reference

Europe PubMed Central

30 July 2017

Cole DE

5

1 reference

Europe PubMed Central

30 July 2017

publication date

1 October 2000

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

16

1 reference

Europe PubMed Central

30 July 2017

281-296

1 reference

Europe PubMed Central

30 July 2017

4

1 reference

Europe PubMed Central

30 July 2017

Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney

1 reference

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21 January 2018

Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism.

1 reference

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21 January 2018

Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor

1 reference

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21 January 2018

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 [...]

1 reference

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21 January 2018

Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

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21 January 2018

Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of CaR-transfected HEK293 cells.

1 reference

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21 January 2018

Protein kinase C phosphorylation of threonine at position 888 in Ca2+o-sensing receptor (CaR) inhibits coupling to Ca2+ store release

1 reference

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21 January 2018

Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function

1 reference

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21 January 2018

Extracellular Mg2(+)- and Ca2(+)-sensing in mouse distal convoluted tubule cells

1 reference

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21 January 2018

Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism

1 reference

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21 January 2018

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

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21 January 2018

The agonist-binding domain of the calcium-sensing receptor is located at the amino-terminal domain

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21 January 2018

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

1 reference

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21 January 2018

Molecular and functional identification of a Ca2+ (polyvalent cation)-sensing receptor in rat pancreas.

1 reference

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21 January 2018

Cloning and localization of two multigene receptor families in goldfish olfactory epithelium

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21 January 2018

No evidence for mutations in the calcium-sensing receptor gene in sporadic parathyroid adenomas.

1 reference

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21 January 2018

Amino acids in the second and third intracellular loops of the parathyroid Ca2+-sensing receptor mediate efficient coupling to phospholipase C.

1 reference

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21 January 2018

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

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21 January 2018

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

1 reference

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21 January 2018

A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.

1 reference

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21 January 2018

Point mutations of the human parathyroid calcium receptor gene are not responsible for non-suppressible renal hyperparathyroidism.

1 reference

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21 January 2018

N-linked glycosylation of the human Ca2+ receptor is essential for its expression at the cell surface

1 reference

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21 January 2018

Mutational analysis of the cysteines in the extracellular domain of the human Ca2+ receptor: effects on cell surface expression, dimerization and signal transduction

1 reference

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21 January 2018

Decreased expression of calcium-sensing receptor messenger ribonucleic acids in parathyroid adenomas

1 reference

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21 January 2018

Familial benign hypercalcemia.

1 reference

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21 January 2018

A carboxyl-terminal domain controls the cooperativity for extracellular Ca2+ activation of the human calcium sensing receptor. A study with receptor-green fluorescent protein fusions

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21 January 2018

Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs

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21 January 2018

Depressed expression of calcium receptor in parathyroid gland tissue of patients with hyperparathyroidism.

1 reference

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21 January 2018

Expression, purification, and biochemical characterization of the amino-terminal extracellular domain of the human calcium receptor

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21 January 2018

Antagonizing the parathyroid calcium receptor stimulates parathyroid hormone secretion and bone formation in osteopenic rats

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21 January 2018

Urine calcium and serum ionized calcium, total calcium and parathyroid hormone concentrations in the diagnosis of primary hyperparathyroidism and familial benign hypercalcaemia

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21 January 2018

A novel family of putative pheromone receptors in mammals with a topographically organized and sexually dimorphic distribution

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21 January 2018

Identification of putative transmembrane receptor sequences homologous to the calcium-sensing G-protein-coupled receptor

1 reference

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21 January 2018

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

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21 January 2018

Putative mammalian taste receptors: a class of taste-specific GPCRs with distinct topographic selectivity

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21 January 2018

Human Ca2+ receptor cysteine-rich domain. Analysis of function of mutant and chimeric receptors

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21 January 2018

Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16.

1 reference

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21 January 2018

The effect of calcium-sensing receptor gene polymorphisms on serum calcium levels: a familial hypocalciuric hypercalcemia family without mutation in the calcium-sensing receptor gene.

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21 January 2018

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

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21 January 2018

The Ca2+-sensing receptor (CaR) activates phospholipases C, A2, and D in bovine parathyroid and CaR-transfected, human embryonic kidney (HEK293) cells

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21 January 2018

Regulation of murine fetal-placental calcium metabolism by the calcium-sensing receptor

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21 January 2018

Familial hypocalciuric hypercalcaemia. II. Intestinal calcium absorption and vitamin D metabolism

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21 January 2018

Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism

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21 January 2018

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

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21 January 2018

A Ca(2+)-sensing receptor mutation causes hypoparathyroidism by increasing receptor sensitivity to Ca2+ and maximal signal transduction

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21 January 2018

A multigene family encoding a diverse array of putative pheromone receptors in mammals.

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21 January 2018

Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia

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21 January 2018

Putative pheromone receptors related to the Ca2+-sensing receptor in Fugu

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21 January 2018

Molecular diversity of glutamate receptors and implications for brain function

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21 January 2018

Calcimimetics with potent and selective activity on the parathyroid calcium receptor

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21 January 2018

The calcium sensing receptor and its alternatively spliced form in keratinocyte differentiation

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21 January 2018

The ligand-binding domain in metabotropic glutamate receptors is related to bacterial periplasmic binding proteins

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21 January 2018

Dimerization of the calcium-sensing receptor occurs within the extracellular domain and is eliminated by Cys --> Ser mutations at Cys101 and Cys236.

1 reference

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21 January 2018

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

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21 January 2018

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

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21 January 2018

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.

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21 January 2018

Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

The carboxyl terminus of the human calcium receptor. Requirements for cell-surface expression and signal transduction.

1 reference

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21 January 2018

Identification of the sites of N-linked glycosylation on the human calcium receptor and assessment of their role in cell surface expression and signal transduction

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21 January 2018

Identification of the cysteine residues in the amino-terminal extracellular domain of the human Ca(2+) receptor critical for dimerization. Implications for function of monomeric Ca(2+) receptor

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21 January 2018

Cloned and expressed rat Ca2+-sensing receptor.

1 reference

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21 January 2018

A new multigene family of putative pheromone receptors

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21 January 2018

Apical extracellular calcium/polyvalent cation-sensing receptor regulates vasopressin-elicited water permeability in rat kidney inner medullary collecting duct

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21 January 2018

Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.

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21 January 2018

A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia

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21 January 2018

A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor

1 reference

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21 January 2018

Identifiers

10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A

1 reference

Europe PubMed Central

30 July 2017

release_mn2kob5t45e7pgotyt5nxyyfua

1 reference

https://api.fatcat.wiki/v0/release/mn2kob5t45e7pgotyt5nxyyfua

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

30 July 2017

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