(Q36171798)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

hypoparathyroidism, familial isolated

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

C Ding

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

B Buckingham

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

language of work or name

English

0 references

publication date

1 October 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

12 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

1215-1220

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

12 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

GATA3 haplo-insufficiency causes human HDR syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Genetic ablation of parathyroid glands reveals another source of parathyroid hormone

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Placental failure in mice lacking the mammalian homolog of glial cells missing, GCMa

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

The size distribution of homozygous segments in the human genome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

The extracellular calcium receptor

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Alteration of cell fate by ectopic expression of Drosophila glial cells missing in non-neural cells.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

DiGeorge anomaly associated with 10p deletion

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Importance of a fifth parathyroid gland in the surgical treatment of hyperparathyroidism.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Molecular genetic analysis of the DiGeorge syndrome among Korean patients with congenital heart disease.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Gcm1, a mammalian homolog of Drosophila glial cells missing.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209530

Surgical significance of supernumerary parathyroid glands in renal hyperparathyroidism

5 December 2018

1 reference

12 December 2020

Autoimmune polyglandular syndromes

1 reference

12 December 2020

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

1 reference

12 December 2020

Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance

1 reference

12 December 2020

A thymoma as a cause of true ectopic hyperparathyroidism

1 reference

12 December 2020

Nonadenomatous thymic unencapsulated parathyroid tissue as a cause of persistent primary hyperparathyroidism

1 reference

12 December 2020

Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI200113180

1 reference

12 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11602629%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference