Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification (Q37534981)

20 August 2017

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

1 reference

20 August 2017

6

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20 August 2017

Tertius A Hough

1

1 reference

20 August 2017

Debora Bogani

2

1 reference

20 August 2017

Michael T Cheeseman

3

1 reference

20 August 2017

Jack Favor

4

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20 August 2017

M Andrew Nesbit

5

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20 August 2017

Mary F Lyon

7

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20 August 2017

language of work or name

English

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publication date

3 September 2004

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20 August 2017

6

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Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

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20 August 2017

101

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20 August 2017

37

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20 August 2017

13566-13571

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Extracellular calcium sensing and signalling

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Calcium-sensing receptor stimulates PTHrP release by pathways dependent on PKC, p38 MAPK, JNK, and ERK1/2 in H-500 cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Calcium signalling in ocular tissues: functional activity of G-protein and tyrosine-kinase coupled receptors

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Extracellular calcium sensing and extracellular calcium signaling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Expression of extracellular calcium-sensing receptor by human lens epithelial cells.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

A simplified method for Ca2+ flux measurement on isolated human B cells that uses flow cytometry

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

A common molecular basis for three inherited kidney stone diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Role of the Ca(2+)-sensing receptor in divalent mineral ion homeostasis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Mutations in the calcium-sensing receptor and their clinical implications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Calcium activates SK channels in the intact human lens

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Novel phenotypes identified by plasma biochemical screening in the mouse

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Ca(2+) regulation in differentiating lens cells in culture

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Genetic, physical, and phenotypic characterization of the Del(13)Svea36H mouse.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

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 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=518795

Calcium transient activity in cultured murine neural crest cells is regulated at the IP(3) receptor

1 September 2018

1 reference

12 December 2020

Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus

1 reference

12 December 2020

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

1 reference

12 December 2020

Induction of specific-locus and dominant lethal mutations in male mice by n-propyl and isopropyl methanesulfonate

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0405516101

1 reference

20 August 2017

0 references

1 reference

20 August 2017

PubMed publication ID

15347804

1 reference