Associated Papers
Detection of PRKAR1A gene mutations in sporadic cardiac myxomas: a study of 24 cases.
Bekers E et al.
Virchows Archiv : an International Journal of Pathology, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Carney complex predisposes to breast cancer: prospective study of 50 women.
Vaduva P et al.
European Journal of Endocrinology, 2024
The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.
Sun J et al.
Frontiers in Endocrinology, 2024
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 2023
A case report and literature review of Carney complex with atrial adenomyxoma.
Xu J et al.
Bmc Endocrine Disorders, 2023
A 14-Year-Old Saudi Boy with Gynecomastia, Cushing Syndrome, Large-Cell Calcifying Sertoli Cell Tumor of the Testis, and Carney Complex.
Alruwaili TK et al.
The American Journal of Case Reports, 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
First Somatic PRKAR1A Defect Associated With Mosaicism for Another PRKAR1A Mutation in a Patient With Cushing Syndrome.
Kamilaris CDC et al.
Journal of the Endocrine Society, 2021
The regulatory 1α subunit of protein kinase A modulates renal cystogenesis.
Ye H et al.
American Journal of Physiology. Renal Physiology, 2017
Bilateral primary pigmented nodular adrenal disease as a component of Carney syndrome - case report.
Sikorska D et al.
Endokrynologia Polska, 2017
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
Ectopic thymus presenting as a thyroid nodule in a patient with the Carney complex.
Courcoutsakis N et al.
Thyroid : Official Journal of the American Thyroid Association, 2009
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD).
Tadjine M et al.
Clinical Endocrinology, 2008
PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes.
Robinson-White AJ et al.
Cancer Research, 2006
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