Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.K59_E60Splc
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PRKAR1A

NM_002734.5:p.K59_E60Splc

Associated Papers

Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature.

Chatzikonstantinou S et al.

The International Journal of Neuroscience, 2022

Association between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review.

Wang H et al.

Frontiers in Endocrinology, 2022

CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report.

Szeliga A et al.

International Journal of Environmental Research and Public Health, 2020

Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented.

Briassoulis G et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2012

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.

Almeida MQ et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Horvath A et al.

Human Mutation, 2010

Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.

Bimpaki EI et al.

European Journal of Endocrinology, 2009

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.

Bertherat J et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.

Robinson-White A et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."