(Q33586753)

28 July 2017

title

Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families (English)

1 reference

primary pigmented nodular adrenocortical disease

28 July 2017

main subject

0 references

Alberto M Pereira

1

0 references

Constantine A Stratakis

12

object named as

Constantine A Stratakis

1 reference

28 July 2017

9

Johannes W Smit

1 reference

28 July 2017

10

Johannes A Romijn

1 reference

28 July 2017

Frederik J Hes

2

1 reference

28 July 2017

Anelia Horvath

3

1 reference

28 July 2017

Sanne Woortman

4

1 reference

28 July 2017

Elizabeth Greene

5

1 reference

28 July 2017

Eirini Bimpaki

6

1 reference

28 July 2017

Anton Alatsatianos

7

1 reference

28 July 2017

Sosipatros Boikos

8

1 reference

28 July 2017

Maria Nesterova

11

1 reference

28 July 2017

language of work or name

English

0 references

publication date

13 November 2009

1 reference

The Journal of Clinical Endocrinology and Metabolism

28 July 2017

language of work

1 reference

28 July 2017

volume

95

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

338-342

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

Large deletions of the PRKAR1A gene in Carney complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

A dynamic mechanism for AKAP binding to RII isoforms of cAMP-dependent protein kinase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

Carney complex: pathology and molecular genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

Proteasomal degradation of unassembled mutant type I collagen pro-alpha1(I) chains

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

Recognition of AUG and alternative initiator codons is augmented by G in position +4 but is not generally affected by the nucleotides in positions +5 and +6.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2805491

Suprarenal tumor (Cushing's syndrome)

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19915019

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19915019

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2009-0993

1 reference

28 July 2017

1 reference

28 July 2017

1 reference