(Q36938300)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

4

1 reference

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9 January 2020

8

Harald Jüppner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1

Michael Mannstadt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Guylène Bertrand

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Mihaela Muresan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Bruno Leheup

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Sirish R Pulusani

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Bernard Grandchamp

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Caroline Silve

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

language of work or name

English

0 references

publication date

26 June 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

9 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

93

1 reference

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9 January 2020

issue

9

1 reference

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9 January 2020

page(s)

3568-3576

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

9 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Diseases associated with the extracellular calcium-sensing receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Underexpression of Gcm2, a master regulatory gene of parathyroid gland development, in adenomas of primary hyperparathyroidism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Genetic ablation of parathyroid glands reveals another source of parathyroid hormone

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Protein stability and domain topology determine the transcriptional activity of the mammalian glial cells missing homolog, GCMb

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

GCMB, a second human homolog of the fly glide/gcm gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Isolation and characterization of mammalian homologs of the Drosophila gene glial cells missing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Structural requirements for DNA binding of GCM proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

The regulator of early gliogenesis glial cells missing is a transcription factor with a novel type of DNA-binding domain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

The gcm-motif: a novel DNA-binding motif conserved in Drosophila and mammals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

An alternatively spliced mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Ectopic expression of wild-type or a dominant-negative mutant of transcription factor NTF-1 disrupts normal Drosophila development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

glial cells missing: a genetic switch that controls glial versus neuronal fate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

mGCMa is a murine transcription factor that overrides cell fate decisions in Drosophila.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

glial cells missing: a binary switch between neuronal and glial determination in Drosophila.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2567849

Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18583467

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic developments in Hypoparathyroidism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18583467

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18583467

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2007-2167

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18583467%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

PubMed publication ID

18583467

1 reference