نتایج جستجو برای: prkar1a protein
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The Carney complex (CNC) is a dominantly inherited syndrome characterized by spotty skin pigmentation, endocrine overactivity and myxomas. Skin pigmentation anomalies include lentigines and blue naevi. The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome due to primary pigmented nodula...
PRKAR1A (protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1))
Expression of miR-200c is a molecular switch to determine cellular fate towards a mesenchymal or epithelial phenotype. miR-200c suppresses the early steps of tumor progression by preventing epithelial-mesenchymal transition (EMT) and intravasation of tumor cells. Unraveling the underlying molecular mechanisms might pinpoint to novel therapeutic options. To better understand these mechanisms it ...
Cyclic-AMP (cAMP)-dependent protein kinase (PKA) is the main effector of cAMP signaling in all tissues. Inactivating mutations of the PRKAR1A gene, coding for the type 1A regulatory subunit of PKA, are responsible for Carney complex and primary pigmented nodular adrenocortical disease (PPNAD). PRKAR1A inactivation and PKA dysregulation have been implicated in various types of adrenocortical pat...
To the Editor: Protein kinase A regulatory subunit-α (PRKAR1A) is inactivated in a subset of melanocytic neoplasms, including pigmented epithelioid melanocytoma (PEM), melanotic schwannoma (MS), and exceptionally rare melanoma.1Wang L. Zehir A. Sadowska J. et al.Consistent copy number changes recurrent PRKAR1A mutations distinguish schwannomas from melanomas: SNP-array next generation sequencin...
Introduction Carney complex (CNC) is a disorder characterized by skin pigmentary abnormalities and benign cardiac,endocrine, skin and neuronal tumors. Areas of unusual lentigines are the most common presenting feature of CNC usually around the lips, eyes or genitalia increase in number at puberty. Cardiac myxomas may occur in any or all cardiac chambers, and leading to intracardiac obstruction ...
Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. Moderate intellectual disability and resistance to multiple hormones might also be present. Recently, a recurrent mutation (c.1102C>T [p.Arg368*]) in PRKAR1A has been identified in three individuals with acrodysostosis and resistance to mu...
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