(Q24300027)

English

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

scientific article

In more languages

Statements

scholarly article

0 references

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

0 references

calcium sensing receptor

1 reference

GOA release 2020-03-11

calcium ion import

1 reference

GOA release 2020-03-11

hyperparathyroidism

1 reference

based on heuristic

inferred from title

primary hyperparathyroidism

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Fadil M. Hannan

object named as

Fadil M Hannan

1

0 references

object named as

Rajesh V Thakker

8

0 references

7

object named as

Roger Bouillon

0 references

author name string

M A Nesbit

2

0 references

Paul T Christie

3

0 references

Willy Lissens

4

0 references

Bart Van der Schueren

5

0 references

Marie Bex

6

0 references

language of work or name

0 references

publication date

December 2010

0 references

Clinical Endocrinology

0 references

73

0 references

715-22

0 references

6

0 references

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Diseases associated with the extracellular calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

The parathyroid glands in familial hypocalciuric hypercalcemia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Hyperparathyroidism

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A common molecular basis for three inherited kidney stone diseases

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Extracellular calcium sensing and signalling

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Functions of MAP kinases: insights from gene-targeting studies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Regulation of MAP kinase by calcium-sensing receptor in bovine parathyroid and CaR-transfected HEK293 cells

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI 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://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitogen-activated protein kinase cascade in human normal and tumoral parathyroid cells.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Monoclonal antibodies against synthetic peptides corresponding to the extracellular domain of the human Ca2+ receptor: characterization and use in studying concanavalin A inhibition.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2010.03870.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24300027&oldid=2042003958"