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Depression and psychosis are described as a part of the ADCY5-related dyskinesia phenotypic spectrum.
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Mutations in ADCY5 are responsible for a hyperkinetic movement disorder that can be preceded by episodic attacks before the movement disorder becomes persistent and is frequently misdiagnosed as dyskinetic cerebral palsy.
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In this series of five ADCY5 mutation carriers, perioral twitches and truncal jerks do not represent myokymia
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ADCY5-related dyskinesia may manifest variable expressivity within a single family, and affected individuals may be initially diagnosed with differing neurological phenotypes.
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ADCY5 gene mutations can present with a wider variety of movement disorder syndromes.
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ADCY5, which encodes adenylyl cyclase type 5, and RAP2C, which encodes a member of the RAS oncogene family, had associations of nearly genomewide significance. ADCY5 locus have been reported to be associated with birth weight and type 2 diabetes however, none were in linkage disequilibrium with the SNPs showing significant association with gestational duration.
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These data suggest that rs11708067-A risk allele contributes to type 2 diabetes by disrupting an islet enhancer, which results in reduced ADCY5 expression and impaired insulin secretion.
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This study demonstrated that whole-exome sequencing show reveled ADCY5 mutation with early-onset generalized dystonia.
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the clinical spectrum of ADCY5 mutations encompasses paroxysmal weakness in addition to paroxysmal dyskinesia and persistent hyperkinesia, nominating ADCY5 mutations as a genetic cause of unexplained alternating hemiplegia of childhood.
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This study showed that ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.(
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Risk alleles for 6 loci increased glucose levels from birth to 5 years of age (ADCY5, ADRA2A, CDKAL1, CDKN2A/B, GRB10, and TCF7L2
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changes in adipose tissue ADCY5 expression are related to obesity and fat distribution.
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This study identification of ADCY5 mutations in one family with dyskinesia-facial myokymia and in two unrelated sporadic cases of paxoysmal choreic/dystonia-facial myokymia.
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these results suggest that AnxA4 is a novel direct negative regulator of AC5, adding a new facet to the functions of annexins.
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Mutations in ADCY5 were linked to benign hereditary chorea.
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LRs are essential not only for the proper membrane distribution and maintenance of AC5/6 activity but also for the regulation of D1R- and D5R-mediated AC signaling.
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Alterations in beta-cell ADCY5 expression and impaired glucose signaling thus provide a likely route through which ADCY5 gene polymorphisms influence fasting glucose levels and T2D risk, while exerting more minor effects on incretin action
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the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cases of autosomal dominant familial dyskinesia with facial myokymia
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AC5, by binding active Galphai1, interferes with G-protein deactivation and reassembly and thereby might sensitize its own regulation.
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Polymorphisms ADCY5 are associated with an alcohol-dependent phenotype in females, which is distinguished by comorbid signs of depression.
