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 (Q37204344)

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English	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	scientific article

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scholarly article

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Europe PubMed Central

PMC publication ID

18 August 2017

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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 (English)

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Europe PubMed Central

PMC publication ID

18 August 2017

primary pigmented nodular adrenocortical disease

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Jérôme Bertherat

13

object named as

Jérôme Bertherat

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Caroline Vincent-Dejean

3

object named as

Caroline Vincent-Dejean

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Duarte Pignatelli

object named as

Duarte Pignatelli

8

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Lionel Groussin

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Lionel Groussin

1

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Constantine A Stratakis

12

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Constantine A Stratakis

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Europe PubMed Central

18 August 2017

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author name string

Lawrence S Kirschner

2

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Europe PubMed Central

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18 August 2017

Karine Perlemoine

4

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Europe PubMed Central

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18 August 2017

Eric Jullian

5

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Europe PubMed Central

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18 August 2017

Brigitte Delemer

6

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Europe PubMed Central

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18 August 2017

Sabina Zacharieva

7

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18 August 2017

J Aidan Carney

9

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Europe PubMed Central

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18 August 2017

Jean Pierre Luton

10

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18 August 2017

Xavier Bertagna

11

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18 August 2017

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publication date

6 November 2002

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18 August 2017

American Journal of Human Genetics

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18 August 2017

71

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Europe PubMed Central

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18 August 2017

6

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Europe PubMed Central

PMC publication ID

18 August 2017

1433-1442

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Europe PubMed Central

PMC publication ID

18 August 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=378588

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=378588

6 September 2017

Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

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=378588

6 September 2017

Initiation of translation in prokaryotes and eukaryotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

6 September 2017

Dissecting cAMP binding domain A in the RIalpha subunit of cAMP-dependent protein kinase. Distinct subsites for recognition of cAMP and the catalytic subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

6 September 2017

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

6 September 2017

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

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=378588

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=378588

6 September 2017

Cyclic AMP stimulates somatostatin gene transcription by phosphorylation of CREB at serine 133

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

6 September 2017

Loss of expression of the ubiquitous transcription factor cAMP response element-binding protein (CREB) and compensatory overexpression of the activator CREMtau in the human adrenocortical cancer cell line H295R.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

28 September 2017

Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

28 September 2017

Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

26 June 2018

Testicular ultrasound in Carney complex: report of three cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

26 June 2018

Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

26 June 2018

Expression and characterization of a truncated form of regulatory subunit of cAMP-dependent protein kinase I lacking binding domain A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

26 June 2018

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic 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=378588

3 September 2018

Genetic and histologic studies of somatomammotropic pituitary tumors in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

3 September 2018

Prolactin secretion abnormalities in patients with the "syndrome of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

3 September 2018

Epithelioid blue nevus and psammomatous melanotic schwannoma: the unusual pigmented skin tumors of the Carney complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

3 September 2018

The cyclic adenosine 3',5'-monophosphate-responsive factor CREB is constitutively activated in human somatotroph adenomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378588

3 September 2018

Cyclic AMP regulates expression of the RIα subunit of cAMP-dependent protein kinase through an alternatively spliced 5′ UTR

1 reference

https://pubmed.ncbi.nlm.nih.gov/12424709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity

1 reference

https://pubmed.ncbi.nlm.nih.gov/12424709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the cAMP-dependent protein kinase system using molecular genetic approaches

1 reference

https://pubmed.ncbi.nlm.nih.gov/12424709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ductal adenoma of the breast with tubular features. A probable component of the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/12424709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ductal adenoma of the breast and the Carney complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/12424709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thyroid Gland Abnormalities in Patients with the Syndrome of Spotty Skin Pigmentation, Myxomas, Endocrine Overactivity, and Schwannomas (Carney Complex)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12424709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a novel genetic locus for familial cardiac myxomas and Carney complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/12424709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12424709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteochondromyxoma of bone: a congenital tumor associated with lentigines and other unusual disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/12424709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

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