Variant: rs864309483 

    present in Gene: ADCY5
    present in Chromosome: 3
    Position on Chromosome: 123352464
    Alleles of this Variant: G/A

rs864309483 in ADCY5 gene and Dyskinesia, Familial, with Facial Myokymia PMID 24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PMID 11310626 2001 Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.

rs864309483 in ADCY5 gene and Dysmorphic features PMID 27052971 2016 Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

PMID 27061943 2016 Phenotypic insights into ADCY5-associated disease.

PMID 24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PMID 26085604 2015 ADCY5 mutations are another cause of benign hereditary chorea.

PMID 26686870 2016 ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

PMID 12665504 2003 Motor dysfunction in type 5 adenylyl cyclase-null mice.

PMID 25790160 2015 A genome sequencing program for novel undiagnosed diseases.

PMID 28511835 2017 ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

PMID 25193033 2014 Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases.

PMID 22539851 2012 Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia.

PMID 8429907 1993 Cloning and expression of an adenylyl cyclase localized to the corpus striatum.

PMID 23449625 2013 Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

PMID 22782511 2012 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

PMID 8415621 1993 Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies.

PMID 8511718 1993 Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain.

PMID 28229249 2017 ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

PMID 26537056 2015 ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

PMID 1618857 1992 Isolation and characterization of a novel cardiac adenylylcyclase cDNA.

PMID 10051231 1999 D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro.

PMID 25379658 2014 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.

PMID 12503609 2003 Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.

PMID 12223546 2002 Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase.

rs864309483 in ADCY5 gene and Movement Disorders PMID 28511835 2017 ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

PMID 8429907 1993 Cloning and expression of an adenylyl cyclase localized to the corpus striatum.

PMID 27061943 2016 Phenotypic insights into ADCY5-associated disease.

PMID 8511718 1993 Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain.

PMID 10051231 1999 D1- and D2-like dopamine receptors are co-localized on the presynaptic varicosities of striatal and nucleus accumbens neurons in vitro.

PMID 28229249 2017 ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

PMID 27052971 2016 Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

PMID 23449625 2013 Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

PMID 22539851 2012 Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia.

PMID 12503609 2003 Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.

PMID 12223546 2002 Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase.

PMID 8415621 1993 Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies.

PMID 12665504 2003 Motor dysfunction in type 5 adenylyl cyclase-null mice.

PMID 26085604 2015 ADCY5 mutations are another cause of benign hereditary chorea.

PMID 22782511 2012 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

PMID 1618857 1992 Isolation and characterization of a novel cardiac adenylylcyclase cDNA.

PMID 24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

PMID 26537056 2015 ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

PMID 26686870 2016 ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

PMID 25193033 2014 Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases.

PMID 25379658 2014 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.

PMID 25790160 2015 A genome sequencing program for novel undiagnosed diseases.