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genetic analysis PRKAR1A gene (lab test)
Known as:
PRKAR1A
, PRKAR1A Gene
, Protein Kinase, cAMP-Dependent, Regulatory, Type I, Alpha (Tissue Specific Extinguisher 1) Gene
This gene plays a role in the regulation of protein kinase A.
National Institutes of Health
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Related topics
Related topics
5 relations
Blood coagulation
Carney Complex
Protein Kinase Protein Phosphorylation
Signal Transduction
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
PRKACB and Carney complex.
A. Forlino
,
A. Vetro
,
+4 authors
O. Zuffardi
New England Journal of Medicine
2014
Corpus ID: 205052907
The authors report that a gain of function in the catalytic subunit beta of the cyclic AMP–dependent protein kinase (protein…
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Review
2014
Review
2014
Carney complex and McCune Albright syndrome: An overview of clinical manifestations and human molecular genetics
P. Salpea
,
C. Stratakis
Molecular and Cellular Endocrinology
2014
Corpus ID: 22663562
Highly Cited
2012
Highly Cited
2012
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
C. Michot
,
Carine Le Goff
,
+14 authors
V. Cormier-Daire
American Journal of Human Genetics
2012
Corpus ID: 12197273
Highly Cited
2011
Highly Cited
2011
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
A. Linglart
,
C. Menguy
,
+9 authors
C. Silve
New England Journal of Medicine
2011
Corpus ID: 21554203
The skeletal dysplasia characteristic of acrodysostosis resembles the Albright's hereditary osteodystrophy seen in patients with…
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Highly Cited
2007
Highly Cited
2007
The PRKAR1A gene is fused to RARA in a new variant acute promyelocytic leukemia.
A. Catalano
,
M. Dawson
,
+4 authors
H. Iland
Blood
2007
Corpus ID: 9586439
We report the molecular and cytogenetic characterization of a novel variant of acute promyelocytic leukemia (APL). The bone…
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Highly Cited
2006
Highly Cited
2006
PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.
A. Robinson-White
,
Elise Meoli
,
+4 authors
C. Stratakis
Journal of Clinical Endocrinology and Metabolism
2006
Corpus ID: 33940059
CONTEXT Primary pigmented nodular adrenocortical disease, associated with Carney complex, is caused by mutations in PRKAR1A (mt…
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Review
2004
Review
2004
Minireview: PRKAR1A: normal and abnormal functions.
I. Bossis
,
C. Stratakis
Endocrinology
2004
Corpus ID: 24404926
The type 1alpha regulatory subunit (RIalpha) of cAMP-dependent protein kinase (PKA) (coded by the PRKAR1A gene) is the main…
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Review
2004
Review
2004
Protein kinase A and its role in human neoplasia: the Carney complex paradigm.
I. Bossis
,
A. Voutetakis
,
T. Bei
,
F. Sandrini
,
K. Griffin
,
C. Stratakis
Endocrine-Related Cancer
2004
Corpus ID: 18729133
The type 1 alpha regulatory subunit (R1alpha) of cAMP-dependent protein kinase A (PKA) (PRKAR1A) is an important regulator of the…
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Highly Cited
2004
Highly Cited
2004
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
M. Veugelers
,
D. Wilkes
,
+36 authors
C. Basson
Proceedings of the National Academy of Sciences…
2004
Corpus ID: 2370369
Carney complex (CNC) is a familial multiple neoplasia syndrome characterized by cardiac and extracardiac myxomas in the setting…
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Highly Cited
2003
Highly Cited
2003
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.
J. Bertherat
,
L. Groussin
,
+11 authors
C. Stratakis
Cancer Research
2003
Corpus ID: 25974206
Germ-line protein kinase A (PKA) regulatory-subunit type-Ialpha (RIalpha; PRKAR1A)-inactivating mutations and loss-of…
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