(Q37557334)

21 August 2017

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

1 reference

21 August 2017

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1 reference

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corrigendum / erratum

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36

Diana Eccles

1 reference

21 August 2017

Alan D Irvine

37

0 references

Elizabeth Goldmuntz

33

object named as

Elizabeth Goldmuntz

1 reference

21 August 2017

Mark Veugelers

1

1 reference

21 August 2017

David Wilkes

2

1 reference

21 August 2017

Kimberly Burton

3

1 reference

21 August 2017

Deborah A McDermott

4

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21 August 2017

Yan Song

5

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21 August 2017

Marsha M Goldstein

6

1 reference

21 August 2017

Krista La Perle

7

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21 August 2017

Carl J Vaughan

8

1 reference

21 August 2017

Art O'Hagan

9

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21 August 2017

Kenneth R Bennett

10

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21 August 2017

Beat J Meyer

11

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21 August 2017

Eric Legius

12

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21 August 2017

Mervi Karttunen

13

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21 August 2017

Reijo Norio

14

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21 August 2017

Helena Kaariainen

15

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21 August 2017

Michael Lavyne

16

1 reference

21 August 2017

Jean-Philippe Neau

17

1 reference

21 August 2017

Gert Richter

18

1 reference

21 August 2017

Kaan Kirali

19

1 reference

21 August 2017

Alan Farnsworth

20

1 reference

21 August 2017

Karen Stapleton

21

1 reference

21 August 2017

Peter Morelli

22

1 reference

21 August 2017

Yoshinori Takanashi

23

1 reference

21 August 2017

John-Steven Bamforth

24

1 reference

21 August 2017

Franz Eitelberger

25

1 reference

21 August 2017

Irene Noszian

26

1 reference

21 August 2017

Waldimiro Manfroi

27

1 reference

21 August 2017

James Powers

28

1 reference

21 August 2017

Yoshihiko Mochizuki

29

1 reference

21 August 2017

Tsuneo Imai

30

1 reference

21 August 2017

Gary T C Ko

31

1 reference

21 August 2017

Deborah A Driscoll

32

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21 August 2017

Jay M Edelberg

34

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21 August 2017

Amanda Collins

35

1 reference

21 August 2017

G Stanley McKnight

38

1 reference

21 August 2017

Craig T Basson

39

1 reference

21 August 2017

language of work or name

English

0 references

publication date

15 September 2004

1 reference

Proceedings of the National Academy of Sciences of the United States of America

21 August 2017

1 reference

21 August 2017

101

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21 August 2017

39

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21 August 2017

14222-14227

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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

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Heart rate variability in critical illness and critical care

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Functional assessment of heart rate variability: physiological basis and practical applications

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Increased basal cAMP-dependent protein kinase activity inhibits the formation of mesoderm-derived structures in the developing mouse embryo

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Heart rate variability and cardiovascular mortality

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Identification and localization of TBX5 transcription factor during human cardiac morphogenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Unconventional myosin VIIA is a novel A-kinase-anchoring protein

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

D-AKAP2, a novel protein kinase A anchoring protein with a putative RGS domain

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Identification of a novel protein kinase A anchoring protein that binds both type I and type II regulatory subunits

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Tumour predisposition in mice heterozygous for a targeted mutation in Nf1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: the "LAMB" syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

The complex of myxomas, spotty pigmentation, and endocrine overactivity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Subtractive hybridization cloning of a tissue-specific extinguisher: TSE1 encodes a regulatory subunit of protein kinase A

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

The tissue-specific extinguisher locus TSE1 encodes a regulatory subunit of cAMP-Dependent protein kinase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Lentiginosis and left atrial myxoma

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Familial cardiac myxoma: emphasis on unusual clinical manifestations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

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.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Endoplasmic reticulum stress and the unfolded protein response in cellular models of Parkinson's disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Dilated cardiomyopathy and sudden death resulting from constitutive activation of protein kinase a.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Beta-adrenergic receptor subtype-specific signaling in cardiac myocytes from beta(1) and beta(2) adrenoceptor knockout mice

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=521100

Direct biologically based biosensing of dynamic physiological function

1 September 2018

1 reference

12 December 2020

A molecular basis for Wolff-Parkinson-White syndrome

1 reference

12 December 2020

[Familial occurrence of cardiac myxomas]

1 reference

12 December 2020

Cardiac myxoma: morphologic, histochemical, and tissue culture studies

1 reference

12 December 2020

Low-grade myofibroblastic sarcoma: analysis of 18 cases in the spectrum of myofibroblastic tumors

1 reference

12 December 2020

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

1 reference

12 December 2020

Cellular myxoma of soft tissue: a clinicopathological study of 38 cases confirming indolent clinical behaviour

1 reference

12 December 2020

Thrombomodulin, calretinin and c-kit (CD117) expression in cardiac myxoma

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0405535101

1 reference

21 August 2017

0 references

1 reference

21 August 2017

PubMed publication ID

15371594

1 reference