(Q46674611)

English

A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges

scientific article published in July 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

mutational analysis

1 reference

based on heuristic

inferred from title

author name string

Burren CP

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

Curley A

2

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

Christie P

3

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

Rodda CP

4

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

Thakker RV

5

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

publication date

1 July 2005

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

Journal of Pediatric Endocrinology and Metabolism

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

18

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

7

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

689-699

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Calcium-sensing receptor in the rat hippocampus: a developmental study.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

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/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Cloning and functional characterization of extracellular Ca(2+)-sensing receptors from parathyroid and kidney

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

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/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Serum thyroxine and thyroid stimulating hormone concentrations after treatment of congenital hypothyroidism

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

The calcium-sensing receptor: insights into extracellular calcium homeostasis in health and disease

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Activating mutations of the Ca2+-sensing receptor

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Localization of calcium receptor mRNA in the adult rat central nervous system by in situ hybridization.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Functional importance of the Ala(116)-Pro(136) region in the calcium-sensing receptor. Constitutive activity and inverse agonism in a family C G-protein-coupled receptor

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Disulfide bonds in the extracellular calcium-polyvalent cation-sensing receptor correlate with dimer formation and its response to divalent cations in vitro

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of CaR-transfected HEK293 cells.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Dimerization of the calcium-sensing receptor occurs within the extracellular domain and is eliminated by Cys --> Ser mutations at Cys101 and Cys236.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Identification of the cysteine residues in the amino-terminal extracellular domain of the human Ca(2+) receptor critical for dimerization. Implications for function of monomeric Ca(2+) receptor

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2005.18.7.689

21 January 2018

Identifiers

10.1515/JPEM.2005.18.7.689

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

release_sojpo5b2k5e7do4rgr4b7xtk2m

1 reference

https://api.fatcat.wiki/v0/release/sojpo5b2k5e7do4rgr4b7xtk2m

24 November 2022

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16128246

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