(Q40498041)

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CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

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Europe PubMed Central

PubMed publication ID

21 September 2017

CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia (English)

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Europe PubMed Central

PubMed publication ID

21 September 2017

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hyperparathyroidism

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based on heuristic

inferred from title

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author name string

Svetlana Pidasheva

1

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Europe PubMed Central

PubMed publication ID

21 September 2017

Lilia D'Souza-Li

2

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Lucie Canaff

3

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Europe PubMed Central

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21 September 2017

David E C Cole

4

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Europe PubMed Central

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21 September 2017

Geoffrey N Hendy

5

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Europe PubMed Central

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21 September 2017

publication date

1 August 2004

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Europe PubMed Central

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21 September 2017

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Europe PubMed Central

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21 September 2017

24

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Europe PubMed Central

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21 September 2017

2

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Europe PubMed Central

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21 September 2017

107-111

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Europe PubMed Central

PubMed publication ID

21 September 2017

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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based on heuristic

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Extracellular calcium sensing and extracellular calcium signaling

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7 January 2021

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Extracellular calcium-sensing receptor is expressed in rat hepatocytes. coupling to intracellular calcium mobilization and stimulation of bile flow

1 reference

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Human calcium-sensing receptor gene. Vitamin D response elements in promoters P1 and P2 confer transcriptional responsiveness to 1,25-dihydroxyvitamin D.

1 reference

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7 January 2021

based on heuristic

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Cloning and characterization of two promoters for the human calcium-sensing receptor (CaSR) and changes of CaSR expression in parathyroid adenomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20067

7 January 2021

based on heuristic

inferred from DOI database lookup

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene

1 reference

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

1 reference

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7 January 2021

based on heuristic

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Standardizing mutation nomenclature: why bother?

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https://api.crossref.org/works/10.1002%2FHUMU.20067

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20067

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Naturally occurring mutations of the extracellular Ca2+-sensing receptor: implications for its structure and function

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.20067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20067

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Guidelines and recommendations for content, structure, and deployment of mutation databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20067

7 January 2021

based on heuristic

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Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20067

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20067

7 January 2021

based on heuristic

inferred from DOI database lookup

Alterations in the sensing and transport of phosphate and calcium by differentiating chondrocytes

1 reference

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7 January 2021

based on heuristic

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Identifiers

10.1002/HUMU.20067

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

release_64ugsva6vjcwbjpfuajwbqfore

1 reference

https://api.fatcat.wiki/v0/release/64ugsva6vjcwbjpfuajwbqfore

24 November 2022

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mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

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