A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria (Q29465816)

18 April 2017

title

A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria (English)

1 reference

18 April 2017

main subject

calcium sensing receptor

1 reference

G protein-coupled receptor signaling pathway

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Vito Guarnieri

7

0 references

author name string

Eugenio Mastromatteo

1

1 reference

18 April 2017

Olga Lamacchia

2

1 reference

18 April 2017

Michela Rosaria Campo

3

1 reference

18 April 2017

Antonella Conserva

4

1 reference

18 April 2017

Filomena Baorda

5

1 reference

18 April 2017

Luigia Cinque

6

1 reference

18 April 2017

Alfredo Scillitani

8

1 reference

18 April 2017

Mauro Cignarelli

9

1 reference

18 April 2017

publication date

7 October 2014

1 reference

18 April 2017

published in

BMC Endocrine Disorders

1 reference

18 April 2017

volume

14

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18 April 2017

page(s)

81

1 reference

CASR gene activating mutations in two families with autosomal dominant hypocalcemia

18 April 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Thick ascending limb: the Na(+):K (+):2Cl (-) co-transporter, NKCC2, and the calcium-sensing receptor, CaSR

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Roles of calcium-sensing receptor (CaSR) in renal mineral ion transport

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Calcium receptor-mediated intracellular signalling

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Protein kinase C (PKC) phosphorylation of the Ca2+ o-sensing receptor (CaR) modulates functional interaction of G proteins with the CaR cytoplasmic tail

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Calcium-sensing receptor activation of rho involves filamin and rho-guanine nucleotide exchange factor

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

The calcium-sensing receptor regulates calcium absorption in MDCK cells by inhibition of PMCA.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Extracellular calcium sensing and extracellular calcium signaling

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Localization of the extracellular Ca2+/polyvalent cation-sensing protein in rat kidney

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4197257

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years

3 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1472-6823-14-81

The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25292184

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Parathyroid glands in familial benign hypercalcemia (familial hypocalciuric hypercalcemia)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25292184

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25292184

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1472-6823-14-81

1 reference

Dimensions Publication ID

18 April 2017

1023764773

0 references

PMC publication ID

4197257

0 references

1 reference