(Q35011891)

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Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

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Europe PubMed Central

PubMed publication ID

5 August 2017

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction (English)

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Europe PubMed Central

PubMed publication ID

5 August 2017

pseudohypoparathyroidism

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inferred from title

8

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Olaf Hiort

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Joachim Grötzinger

4

object named as

Joachim Grötzinger

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Harald Jüppner

6

object named as

Harald Jüppner

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

7

object named as

Murat Bastepe

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

1

object named as

Susanne Thiele

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Europe PubMed Central

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5 August 2017

author name string

Luisa de Sanctis

2

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Ralf Werner

3

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Joachim Grötzinger

4

1 reference

Europe PubMed Central

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5 August 2017

Cumhur Aydin

5

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Europe PubMed Central

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5 August 2017

publication date

12 April 2011

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Europe PubMed Central

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5 August 2017

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Europe PubMed Central

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5 August 2017

32

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Europe PubMed Central

PubMed publication ID

5 August 2017

6

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Europe PubMed Central

PubMed publication ID

5 August 2017

653-660

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Europe PubMed Central

PubMed publication ID

5 August 2017

The GNAS locus and pseudohypoparathyroidism

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

https://api.crossref.org/works/10.1002%2FHUMU.21489

21 January 2018

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Mutations in the Gs alpha gene causing hormone resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Characterization of the molecular mechanisms of the coupling between intracellular loops of prostacyclin receptor with the C-terminal domain of the Galphas protein in human coronary artery smooth muscle cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Genetics of pseudohypoparathyroidism types Ia and Ic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

GNAS locus and pseudohypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Gs(alpha) mutations and imprinting defects in human disease

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

https://pubmed.ncbi.nlm.nih.gov/21488135

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

G protein mutations in endocrine diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Crystal structure of the adenylyl cyclase activator Gsalpha

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Functional domains of the Gs alpha subunit: role of the C-terminus in the receptor-dependent and receptor-independent activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Isolation and characterization of the human Gs alpha gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Carboxyl terminal domain of Gs alpha specifies coupling of receptors to stimulation of adenylyl cyclase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Identification of receptor contact site involved in receptor-G protein coupling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Antibodies against synthetic peptides as probes of G protein structure and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

8 July 2018

Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21489

21 January 2018

Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21489

21 January 2018

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21489

21 January 2018

MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21489

21 January 2018

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

25 October 2018

Synthetic peptides as probes for G protein function. Carboxyl-terminal G alpha s peptides mimic Gs and evoke high affinity agonist binding to beta-adrenergic receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103608

25 October 2018

Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21489

21 January 2018

Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/21488135

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Site of G protein binding to rhodopsin mapped with synthetic peptides from the alpha subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/21488135

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase

1 reference

https://pubmed.ncbi.nlm.nih.gov/21488135

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/21488135

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.21489

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

ResearchGate publication ID

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