(Q36892834)

16 August 2017

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

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16 August 2017

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Mancilla EE

1

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16 August 2017

De Luca F

2

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16 August 2017

Ray K

3

1 reference

16 August 2017

Winer KK

4

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16 August 2017

Fan GF

5

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16 August 2017

Baron J

6

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16 August 2017

language of work or name

English

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publication date

1 October 1997

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16 August 2017

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16 August 2017

42

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16 August 2017

4

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16 August 2017

443-447

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https://scigraph.springernature.com/pub.10.1203/00006450-199710000-00004

16 August 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

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 [...]

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

Fluorescence detection in automated DNA sequence analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

Changes in the levels of inositol phosphates after agonist-dependent hydrolysis of membrane phosphoinositides

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

Constitutive activity of receptors coupled to guanine nucleotide regulatory proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

Mutations of two adjacent amino acids generate inactive and constitutively active forms of the human platelet-activating factor receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

Detecting single base substitutions as heteroduplex polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199710000-00004

10.1203/00006450-199710000-00004

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

16 August 2017

0 references

1 reference