CASR gene activating mutations in two families with autosomal dominant hypocalcemia (Q29465805)

18 April 2017

CASR gene activating mutations in two families with autosomal dominant hypocalcemia (English)

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18 April 2017

calcium sensing receptor

1 reference

G protein-coupled receptor signaling pathway

GOA release 2020-03-11

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autosomal dominant hypocalcemia

GOA release 2020-03-11

1 reference

Vito Guarnieri

1

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Valerio Pazienza

object named as

Valerio Pazienza

4

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Massimiliano Copetti

object named as

Massimiliano Copetti

7

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Massimo Carella

object named as

Massimo Carella

14

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author name string

Angela Valentina D'Elia

2

1 reference

18 April 2017

Filomena Baorda

3

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18 April 2017

Giorgia Benegiamo

5

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18 April 2017

Pietro Stanziale

6

1 reference

18 April 2017

Claudia Battista

8

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18 April 2017

Franco Grimaldi

9

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18 April 2017

Giuseppe Damante

10

1 reference

18 April 2017

Fabio Pellegrini

11

1 reference

18 April 2017

Leonardo D'Agruma

12

1 reference

18 April 2017

Leopoldo Zelante

13

1 reference

18 April 2017

Alfredo Scillitani

15

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18 April 2017

26 June 2012

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Molecular Genetics and Metabolism

18 April 2017

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18 April 2017

107

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18 April 2017

548-552

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18 April 2017

3

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

18 April 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

Role of calcium-sensing receptor in mineral ion metabolism and inherited disorders of calcium-sensing.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

A Family of Autosomal Dominant Hypocalcemia with an Activating Mutation of Calcium-Sensing Receptor Gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

A boy with heart failure, a thick tongue, and double vision

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

Cardiac failure secondary to hypocalcaemia of nutritional osteomalacia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

Hypocalcemia precipitating congestive heart failure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

Reversible congestive heart failure related to profound hypocalcemia secondary to hypoparathyroidism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.06.012

10.1016/J.YMGME.2012.06.012

7 January 2021

Identifiers

DOI

1 reference

18 April 2017

1 reference