(Q35595823)

English

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

scientific article published on June 2015

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scholarly article

1 reference

Europe PubMed Central

9 August 2017

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations (English)

1 reference

Europe PubMed Central

9 August 2017

Constantine A Stratakis

18

object named as

Constantine A Stratakis

1 reference

Europe PubMed Central

9 August 2017

James R. Lupski

17

object named as

James R Lupski

1 reference

Europe PubMed Central

9 August 2017

15

object named as

Martha Quezado

1 reference

Europe PubMed Central

9 August 2017

1 reference

ORCID Public Data File 2021

author name string

Maya B Lodish

1

1 reference

Europe PubMed Central

9 August 2017

Bo Yuan

2

1 reference

Europe PubMed Central

9 August 2017

Isaac Levy

3

1 reference

Europe PubMed Central

9 August 2017

Glenn D Braunstein

4

1 reference

Europe PubMed Central

9 August 2017

Charalampos Lyssikatos

5

1 reference

Europe PubMed Central

9 August 2017

Paraskevi Salpea

6

1 reference

Europe PubMed Central

9 August 2017

Eva Szarek

7

1 reference

Europe PubMed Central

9 August 2017

Alexander S Karageorgiadis

8

1 reference

Europe PubMed Central

9 August 2017

Elena Belyavskaya

9

1 reference

Europe PubMed Central

9 August 2017

Margarita Raygada

10

1 reference

Europe PubMed Central

9 August 2017

Fabio Rueda Faucz

11

1 reference

Europe PubMed Central

9 August 2017

Louise Izzat

12

1 reference

Europe PubMed Central

9 August 2017

Caroline Brain

13

1 reference

Europe PubMed Central

9 August 2017

James Gardner

14

1 reference

Europe PubMed Central

9 August 2017

J Aidan Carney

16

1 reference

Europe PubMed Central

9 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 June 2015

1 reference

Europe PubMed Central

9 August 2017

European Journal of Endocrinology

1 reference

Europe PubMed Central

9 August 2017

172

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Europe PubMed Central

9 August 2017

6

1 reference

Europe PubMed Central

9 August 2017

803-811

1 reference

Europe PubMed Central

9 August 2017

E pluribus unum? The main protein kinase A catalytic subunit (PRKACA), a likely oncogene, and cortisol-producing tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Effect of maternal n-3 long-chain polyunsaturated fatty acid supplementation during pregnancy and/or lactation on adiposity in childhood: a systematic review and meta-analysis of randomized controlled trials

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Medicine. A unified cause for adrenal Cushing's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Detection of a recurrent DNAJB1-PRKACA chimeric transcript in fibrolamellar hepatocellular carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

cAMP/PKA signaling defects in tumors: genetics and tissue-specific pluripotential cell-derived lesions in human and mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Massive neonatal adrenal enlargement due to cytomegaly, persistence of the transient cortex, and hyperplasia of the permanent cortex: findings in Cushing syndrome associated with hemihypertrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

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=4428149

12 July 2018

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Drosophila Costal1 mutations are alleles of protein kinase A that modulate hedgehog signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

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=4428149

12 July 2018

The S49 Kin- cell line transcribes and translates a functional mRNA coding for the catalytic subunit of cAMP-dependent protein kinase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Mutations in the catalytic subunit of cAMP-dependent protein kinase result in unregulated biological activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

12 July 2018

Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

26 September 2018

Sequence analysis of the catalytic subunit of PKA in somatotroph adenomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

26 September 2018

Somatic mutations of the catalytic subunit of cyclic AMP-dependent protein kinase (PRKACA) gene in Japanese patients with several adrenal adenomas secreting cortisol [Rapid Communication].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

26 September 2018

Novel somatic mutations in the catalytic subunit of the protein kinase A as a cause of adrenal Cushing's syndrome: a European multicentric study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

26 September 2018

Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

26 September 2018

Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

26 September 2018

Mutation of the Calpha subunit of PKA leads to growth retardation and sperm dysfunction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

26 September 2018

Mutations in the catalytic subunit of the cAMP-dependent protein kinase interfere with holoenzyme formation without disrupting inhibition by protein kinase inhibitor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4428149

26 September 2018

Mutation analysis of protein kinase A catalytic subunit in thyroid adenomas and pituitary tumours

1 reference

https://pubmed.ncbi.nlm.nih.gov/25924874

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1530/EJE-14-1154

1 reference

Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

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