(Q50101789)

English

A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.

scientific article published on 16 December 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism. (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

transmembrane protein

0 references

hypoparathyroidism

1 reference

based on heuristic

inferred from title

author name string

Masaaki Shiohara

1

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

Tetsuo Mori

2

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

Bai Mei

3

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

Edward M Brown

4

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

Tomoyuki Watanabe

5

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

Toshiyuki Yasuda

6

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

publication date

16 December 2003

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

163

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

2

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

94-98

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

https://scigraph.springernature.com/pub.10.1007/s00431-003-1331-7

0 references

Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in the calcium-sensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

24-Oxo metabolites of vitamin D3 analogues: disassociation of their prominent antileukemic effects from their lack of calcium modulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activating mutations of the calcium-sensing receptor: management of hypocalcemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A randomized, cross-over trial of once-daily versus twice-daily parathyroid hormone 1-34 in treatment of hypoparathyroidism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Calcium-ion-sensing cell-surface receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The calcium-sensing receptor: a window into the physiology and pathophysiology of mineral ion metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoparathyroidism and pseudohypoparathyroidism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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 [...]

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association between activating mutations of calcium-sensing receptor and Bartter's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and functional expression of a rat kidney extracellular calcium/polyvalent cation-sensing receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?

1 reference

https://pubmed.ncbi.nlm.nih.gov/14677060

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-003-1331-7

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 February 2018

http://europepmc.org/abstract/MED/14677060

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