(Q37212283)

English

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes

scientific article published on 17 March 2009

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scholarly article

1 reference

Europe PubMed Central

19 August 2017

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes (English)

1 reference

Europe PubMed Central

19 August 2017

1 reference

based on heuristic

inferred from title

Jérôme Bertherat

1

object named as

Jérôme Bertherat

0 references

Lionel Groussin

object named as

Lionel Groussin

3

0 references

Constantine A Stratakis

17

object named as

Constantine A Stratakis

1 reference

Europe PubMed Central

19 August 2017

author name string

Anélia Horvath

2

1 reference

Europe PubMed Central

19 August 2017

Sophie Grabar

4

1 reference

Europe PubMed Central

19 August 2017

Sosipatros Boikos

5

1 reference

Europe PubMed Central

19 August 2017

Laure Cazabat

6

1 reference

Europe PubMed Central

19 August 2017

Rosella Libe

7

1 reference

Europe PubMed Central

19 August 2017

Fernande René-Corail

8

1 reference

Europe PubMed Central

19 August 2017

Sotirios Stergiopoulos

9

1 reference

Europe PubMed Central

19 August 2017

Isabelle Bourdeau

10

1 reference

Europe PubMed Central

19 August 2017

Thalia Bei

11

1 reference

Europe PubMed Central

19 August 2017

Eric Clauser

12

1 reference

Europe PubMed Central

19 August 2017

Alain Calender

13

1 reference

Europe PubMed Central

19 August 2017

Lawrence S Kirschner

14

1 reference

Europe PubMed Central

19 August 2017

Xavier Bertagna

15

1 reference

Europe PubMed Central

19 August 2017

J Aidan Carney

16

1 reference

Europe PubMed Central

19 August 2017

language of work or name

0 references

publication date

17 March 2009

1 reference

Europe PubMed Central

19 August 2017

The Journal of Clinical Endocrinology and Metabolism

1 reference

Europe PubMed Central

19 August 2017

94

1 reference

Europe PubMed Central

19 August 2017

2085-2091

1 reference

Europe PubMed Central

19 August 2017

6

1 reference

Europe PubMed Central

19 August 2017

Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Adrenocortical tumors, primary pigmented adrenocortical disease (PPNAD)/Carney complex, and other bilateral hyperplasias: the NIH studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Carney complex: the first 20 years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

PRKAR1A mutations in primary pigmented nodular adrenocortical disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

A typical Korean case of Carney complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Molecular cloning, chromosomal localization of human peripheral‐type benzodiazepine receptor‐ and protein kinase A regulatory subunit type 1A (PRKAR1A)‐associated protein PAP7 and studies inPRKAR1Amutant cells and tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Chromosome 2 (2p16) abnormalities in Carney complex tumours

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Management of the clinically inapparent adrenal mass ("incidentaloma")

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysio

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

The essential role of RI alpha in the maintenance of regulated PKA activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

The complex of myxomas, spotty pigmentation, and endocrine overactivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

6 September 2017

Large deletions of the PRKAR1A gene in Carney complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

14 September 2017

Depletion of type IA regulatory subunit (RIalpha) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

14 September 2017

cAMP pathway alterations from the cell surface to the nucleus in adrenocortical tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

14 September 2017

Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

3 September 2018

PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

3 September 2018

A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

3 September 2018

Disruption of protein kinase a regulation causes immortalization and dysregulation of D-type cyclins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

3 September 2018

Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

3 September 2018

Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

3 September 2018

Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690418

3 September 2018

Male infertility as a component of Carney complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/19293268

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Editorial: Carney complex--clarity and complexity

1 reference

https://pubmed.ncbi.nlm.nih.gov/19293268

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[PRKAR1A gene mutations in two patients with myxoma syndrome (Carney complex)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/19293268

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atrial myxoma: a cardiocutaneous syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19293268

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new inherited syndrome with cardiac, cutaneous, and endocrine involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/19293268

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/19293268

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Japanese case of familial cardiac myxoma associated with a mutation of the PRKAR1alpha gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19293268

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autoantibody cancer biomarker: extracellular protein kinase A

1 reference

https://pubmed.ncbi.nlm.nih.gov/19293268

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/JC.2008-2333

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

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0 references

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