(Q48612803)

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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

scientific article published on 14 March 2012

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26 January 2020

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites (English)

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26 January 2020

Fadil M. Hannan

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26 January 2020

Manuel C. Lemos

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26 January 2020

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26 January 2020

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26 January 2020

Christine P Burren

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26 January 2020

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Roger Bouillon

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26 January 2020

Treena Cranston

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Treena Cranston

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26 January 2020

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Alan J Curley

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26 January 2020

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M Andrew Nesbit

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26 January 2020

Chen Zhang

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26 January 2020

Brian Harding

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26 January 2020

Carl Fratter

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26 January 2020

Nigel Rust

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26 January 2020

Paul T Christie

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26 January 2020

Jeremy J O Turner

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26 January 2020

Caroline Brain

14

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26 January 2020

Nicola Bridges

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26 January 2020

John M Connell

17

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26 January 2020

Heike Jung

18

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26 January 2020

Eileen Marks

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26 January 2020

David McCredie

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26 January 2020

Zulf Mughal

21

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26 January 2020

Christine Rodda

22

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26 January 2020

Sherida Tollefsen

23

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26 January 2020

Edward M Brown

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26 January 2020

Jenny J Yang

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26 January 2020

publication date

14 March 2012

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26 January 2020

Human Molecular Genetics

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26 January 2020

21

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26 January 2020

12

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26 January 2020

2768-2778

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26 January 2020

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Modulation of interprotomer relationships is important for activation of dimeric calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

The Venus Fly Trap domain of the extracellular Ca2+ -sensing receptor is required for L-amino acid sensing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Elucidation of the role of peptide linker in calcium-sensing receptor activation process.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Identification and dissection of Ca(2+)-binding sites in the extracellular domain of Ca(2+)-sensing receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Multiple Ca(2+)-binding sites in the extracellular domain of the Ca(2+)-sensing receptor corresponding to cooperative Ca(2+) response

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Extracellular calcium sensing and signalling

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Diseases associated with the extracellular calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

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/10.1093%2FHMG%2FDDS105

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Delineating a Ca2+ binding pocket within the venus flytrap module of the human calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Structural basis of glutamate recognition by a dimeric metabotropic glutamate receptor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Clustal W and Clustal X version 2.0

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Comparative protein structure modeling of genes and genomes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

Structural views of the ligand-binding cores of a metabotropic glutamate receptor complexed with an antagonist and both glutamate and Gd3+.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS105

21 January 2018

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