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6,449 Possible Causes for cAMP dependent, complex, kinase, protein

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  • Carney Complex

    The PRKAR1A gene encodes the type 1A regulatory subunit of cAMP-dependent protein kinase A.[] Its central component is the protein kinase A (PKA).[] […] et al report on the genetics of cardiac myxomas in patients with Carney complex.[] The microdeletion causes haploinsufficiency of PRKAR1A (protein kinase, cAMP-dependent, regulatory 1alpha), which is known to cause Carney Complex but this diagnosis alone[]

  • Primary Pigmented Nodular Adrenocortical Disease

    Additionally, it can be secondary to mutations of type 1 alpha-regulatory subunit of cAMP-dependent protein kinase A (PRKARIA).[] […] complex, a familial lentiginosis-multiple endocrine neoplasia syndrome frequently caused by mutations in PRKAR1A, which encodes the 1alpha regulatory subunit of protein kinase[] Abstract Carney's complex is composed of myxoma, spotty pigmentation and endocrine overactivity.[] Genetic alterations of the type 1-alpha regulatory subunit of cAMP-dependent protein kinase A (PRKAR1A) and phosphodiesterase 11A4 (PDE11A) genes have been found in PPNAD.[]

  • Carney Complex Type 1

    @article{Cazabat2014InactivationOT, title {Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase:[] Cyclic nucleotide-dependent protein kinases. V. Preparation and properties of adenosine 3′, 5′-monophosphate-dependent protein kinase from various bovine tissues .[] Less commonly, the molecular pathogenesis of Carney complex is a variety of genetic changes at chromosome 2p16. [10] [11] Both types of Carney complex are autosomal dominant[] […] kinase 2 associated protein 2 0.993596 PRKACB protein kinase, cAMP-dependent, catalytic, beta 0.97044 PRKAR2A protein kinase, cAMP-dependent, regulatory, type II, alpha 0.956614[]

  • Acrodysostosis

    We report a germ-line mutation in the gene encoding PRKAR1A, the cyclic AMP (cAMP)-dependent regulatory subunit of protein kinase A, in three unrelated patients with acrodysostosis[] Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in protein kinase type 1-α regulatory subunit and acrodysostosis type 2 caused by mutations[] The main target of cAMP is PKA, the main regulatory subunit of which (PRKAR1A) presents mutations in two genetic disorders: acrodysostosis and Carney complex.[] CRE-luciferase reporter assays indicated significantly impaired response of protein kinase A to cAMP in the HEK293 cells expressing the mutant p.T239A protein.[]

  • Familial Dysautonomia

    One of the hits, SKF-86466, was found to induce IKBKAP transcription through modulation of intracellular cAMP levels and PKA-dependent CREB phosphorylation.[] […] pyruvate dehydrogenase (acetyl-transferring) kinase[] IKAP homologues can be found in all eukaryotes and are part of a conserved six subunit protein complex, Elongator complex.[] IkappaB kinase complex-associated protein, which is a component of the human Elongator acetylase complex.[]

  • Phosphorylase Kinase Deficiency

    […] activates cAMP-dependent protein kinase 2. cAMP-dependent protein kinase phosphorylates phosphorylase kinase a 3 Phosphorylase kinase a phosphorylates glycogen synthase a[] There are several types of PKD, stemming from the deficiency of either liver phosphorylase kinase, muscle phosphorylase kinase, or both.[] Electrocardiographic and echocardiographic findings are characteristic but not specific; these include large QRS complexes, short PR interval, and a hypertrophic nonobstructive[] The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic[]

  • Viral Lower Respiratory Infection

    , nursing homes Generally not regarded as contagious, risk of infection depends on one's general health Disclaimer: As a service to our readers, Harvard Health Publishing[] […] receptors on respiratory epithelial cells, inhibiting epithelial sodium-channel–mediated clearance of pulmonary fluid through a pathway involving phospholipase and protein kinase[] Usually, respiratory infections are cured completely if treated early, but serious, complex infections may be life-threatening if proper treatment is not provided.[] Each protein is marked on the gel by an arrow, and relative amounts of proteins are shown in the graphs.[]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    Type VIII (Liver phosphorylase kinase deficiency) Type IX (Liver and muscle phosphorylase kinase deficiency) Type X (cAMP dependent protein kinase A deficiency) There is hepatomegaly[] […] such as protein kinase A (PKA, cAMP-dependent kinase).[] Isozymes of phosphorylase kinase in rabbit skeletal muscle.[] A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am. J. Dis. Child., 113:214, 1967. ‎[]

  • AOMS3

    . and Broach, J. (1989) Loss of Ras activity in Saccharomyces cerevisiae is suppressed by disruptions of a new kinase gene, YAKI, whose product may act downstream of the cAMP-dependent[] The MAPK kinase MKK3 was also shown to activate Mirk as a protein kinase, implicating Mirk in the biological response to certain stress agents.[] Here we describe an initial version of a proteome-scale map of human binary proteinprotein interactions.[] Abbreviations: Mirk minibrain-related kinase Dyrk dual-specificity Yak-related kinase CRE cAMP-response element CREB CRE-binding protein HNF1α hepatocyte nuclear factor 1α[]

  • Influenza

    Eventually, the diagnosis of anti-single recognition particle-mediated necrotizing myopathy was made based on elevated creatine kinase, thigh magnetic resonance imaging, muscle[] Each genomic RNA segment exists in the form of a ribonucleoprotein complex (RNP) in association with nucleoproteins and an RNA-dependent RNA polymerase in virions.[] Like hemagglutinin and neuraminidase, the M2 protein is an integral membrane protein of the influenza A virus 4 , 5 .[] , thrombocytopenia, prolonged prothrombin time and activated partial thromboplastin time, increased D-Dimer, increased serum lactate dehydrogenase and creatinine phospho-kinase[]

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