|
Carney Complex, Type 1
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Carney complex: A familial lentiginosis predisposing to a variety of tumors.
|
27943004 |
2016 |
|
Carney Complex, Type 1
|
0.900 |
Biomarker
|
disease |
CTD_human |
Structure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation.
|
27825928 |
2016 |
|
Carney Complex, Type 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
|
26405036 |
2015 |
|
Carney Complex, Type 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other.
|
22785148 |
2012 |
|
Carney Complex, Type 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel Mutation in PRKAR1A in Carney Complex.
|
23323113 |
2012 |
|
Carney Complex, Type 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other.
|
22785148 |
2012 |
|
Carney Complex, Type 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented.
|
22341669 |
2012 |
|
Carney Complex, Type 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.
|
22259056 |
2012 |
|
Carney Complex, Type 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.
|
20358582 |
2010 |
|
Carney Complex, Type 1
|
0.900 |
Biomarker
|
disease |
MGD |
Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone.
|
20421483 |
2010 |
|
Carney Complex, Type 1
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
|
19293268 |
2009 |
|
Carney Complex, Type 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
|
19293268 |
2009 |
|
Carney Complex, Type 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.
|
18241045 |
2008 |
|
Carney Complex, Type 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits.
|
18056771 |
2008 |
|
Carney Complex, Type 1
|
0.900 |
Biomarker
|
disease |
MGD |
A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues.
|
15930266 |
2005 |
|
Carney Complex, Type 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
|
15371594 |
2004 |
|
Carney Complex, Type 1
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
|
15371594 |
2004 |
|
Carney Complex, Type 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
|
15371594 |
2004 |
|
Carney Complex, Type 1
|
0.900 |
Biomarker
|
disease |
MGD |
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
|
15371594 |
2004 |
|
Carney Complex, Type 1
|
0.900 |
Biomarker
|
disease |
CLINGEN |
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.
|
15591278 |
2004 |
|
Carney Complex, Type 1
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex.
|
10974026 |
2000 |
|
Carney Complex, Type 1
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.
|
11115848 |
2000 |
|
Carney Complex, Type 1
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.
|
10973256 |
2000 |
|
Carney Complex, Type 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.
|
11115848 |
2000 |
|
Carney Complex, Type 1
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.
|
10973256 |
2000 |