| Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease. | Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease.
Cif L, Demailly D, Gehin C, Chan Seng E, Dornadic M, Huby S, Poulen G, Roubertie A, Villessot M, Roujeau T, Coubes P. | 02/4/2023 |
| Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men. | Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men.
Rivera-Paredez B, Aparicio-Bautista DI, Argoty-Pantoja AD, Patiño N, Flores Morales J, Salmerón J, León-Reyes G, Velázquez-Cruz R., Free PMC Article | 10/22/2022 |
| Mutation of ADCY5 gene in patients with Meige syndrome. | Mutation of ADCY5 gene in patients with Meige syndrome.
Liu J, Ding H, Liu R. | 08/27/2022 |
| Association of diabetes-related variants in ADCY5 and CDKAL1 with neonatal insulin, C-peptide, and birth weight. | Association of diabetes-related variants in ADCY5 and CDKAL1 with neonatal insulin, C-peptide, and birth weight.
Aguilera-Venegas IG, Mora-Peña JD, Velazquez-Villafaña M, Gonzalez-Dominguez MI, Barbosa-Sabanero G, Gomez-Zapata HM, Lazo-de-la-Vega-Monroy ML. | 10/30/2021 |
| Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability. | Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.
Okamoto N, Miya F, Kitai Y, Tsunoda T, Kato M, Saitoh S, Kanemura Y, Kosaki K. | 07/24/2021 |
| By inhibiting ADCY5, miR-18a-3p promotes osteoporosis and possibly contributes to spinal fracture. | By inhibiting ADCY5, miR-18a-3p promotes osteoporosis and possibly contributes to spinal fracture.
Wang L, Dong J, Ma J, Lu Q, Shan B, Han T, Xie P, Zuo X. | 06/26/2021 |
| Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series. | Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series.
de Almeida Marcelino AL, Mainka T, Krause P, Poewe W, Ganos C, Kühn AA., Free PMC Article | 06/26/2021 |
| An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease. | An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.
Ferrini A, Steel D, Barwick K, Kurian MA. | 05/22/2021 |
| Galphai1 inhibition mechanism of ATP-bound adenylyl cyclase type 5. | Gαi1 inhibition mechanism of ATP-bound adenylyl cyclase type 5.
Narzi D, van Keulen SC, Röthlisberger U., Free PMC Article | 05/15/2021 |
| Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. | Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Powis Z, Towne MC, Hagman KDF, Blanco K, Palmaer E, Castro A, Sajan SA, Radtke K, Feyma TJ, Juliette K, Tang S, Sidiropoulos C. | 02/6/2021 |
| Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements. | Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.
Méneret A, Roze E, Maranci JB, Dodet P, Doummar D, Riant F, Tranchant C, Fraix V, Anheim M, Ekmen A, McGovern E, Vidailhet M, Arnulf I, Leu-Semenescu S., Free PMC Article | 10/24/2020 |
| Three SNPs (rs6797915, rs9856662 and rs9875803) displayed evidence for association with plasma glucose 1 hour after a 50-gram glucose challenge test, one (rs6777397) displayed evidence for association with HOMA1-beta, and one (rs6762009) displayed evidence for association with HOMA1-IR. | Common genetic variants in ADCY5 and gestational glycemic traits.
Lin R, Yuan Z, Zhang C, Ju H, Sun Y, Huang N, Chen L, Jin L., Free PMC Article | 06/20/2020 |
| we describe a native Arabian Bedouin family with an autosomal recessive ADCY5-related disorder | Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
Bohlega SA, Abou-Al-Shaar H, AlDakheel A, Alajlan H, Bohlega BS, Meyer BF, Monies D, Cupler EJ, Al-Saif AM. | 06/6/2020 |
| Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5 mutation-related dyskinesia. | Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease.
Balint B, Antelmi E, Mencacci NE, Batla A, Eriksson SH, Walker MC, Bronstein AM, Bhatia KP. | 09/21/2019 |
| indicate an association between PDE10A and ADCY5 mutations and pre/postsynaptic molecular changes, substantia nigra damage, and white and gray matter changes within the striatocortical pathways | PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.
Niccolini F, Mencacci NE, Yousaf T, Rabiner EA, Salpietro V, Pagano G, Balint B, Efthymiou S, Houlden H, Gunn RN, Wood N, Bhatia KP, Politis M. | 09/14/2019 |
| Depression and psychosis are described as a part of the ADCY5-related dyskinesia phenotypic spectrum. | Depression and psychosis in ADCY5-related dyskinesia-part of the phenotypic spectrum?
Vijiaratnam N, Newby R, Kempster PA. | 12/22/2018 |
| 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. | ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
Carecchio M, Mencacci NE, Iodice A, Pons R, Panteghini C, Zorzi G, Zibordi F, Bonakis A, Dinopoulos A, Jankovic J, Stefanis L, Bhatia KP, Monti V, R'Bibo L, Veneziano L, Garavaglia B, Fusco C, Wood N, Stamelou M, Nardocci N., Free PMC Article | 04/28/2018 |
| In this series of five ADCY5 mutation carriers, perioral twitches and truncal jerks do not represent myokymia | Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study.
Tunc S, Brüggemann N, Baaske MK, Hartmann C, Grütz K, Westenberger A, Klein C, Münchau A, Bäumer T. | 04/7/2018 |
| ADCY5-related dyskinesia may manifest variable expressivity within a single family, and affected individuals may be initially diagnosed with differing neurological phenotypes. | ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
Douglas AG, Andreoletti G, Talbot K, Hammans SR, Singh J, Whitney A, Ennis S, Foulds NC., Free PMC Article | 02/24/2018 |
| ADCY5 gene mutations can present with a wider variety of movement disorder syndromes. | Phenotypic insights into ADCY5-associated disease.
Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS., Free PMC Article | 12/30/2017 |
| 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. | A Type 2 Diabetes-Associated Functional Regulatory Variant in a Pancreatic Islet Enhancer at the ADCY5 Locus.
Roman TS, Cannon ME, Vadlamudi S, Buchkovich ML, Wolford BN, Welch RP, Morken MA, Kwon GJ, Varshney A, Kursawe R, Wu Y, Jackson AU, National Institutes of Health Intramural Sequencing Center (NISC) Comparative Sequencing Program, Erdos MR, Kuusisto J, Laakso M, Scott LJ, Boehnke M, Collins FS, Parker SCJ, Stitzel ML, Mohlke KL., Free PMC Article | 10/21/2017 |
| 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. | Genetic Associations with Gestational Duration and Spontaneous Preterm Birth.
Zhang G, Feenstra B, Bacelis J, Liu X, Muglia LM, Juodakis J, Miller DE, Litterman N, Jiang PP, Russell L, Hinds DA, Hu Y, Weirauch MT, Chen X, Chavan AR, Wagner GP, Pavličev M, Nnamani MC, Maziarz J, Karjalainen MK, Rämet M, Sengpiel V, Geller F, Boyd HA, Palotie A, Momany A, Bedell B, Ryckman KK, Huusko JM, Forney CR, Kottyan LC, Hallman M, Teramo K, Nohr EA, Davey Smith G, Melbye M, Jacobsson B, Muglia LJ., Free PMC Article | 10/24/2017 |
| This study demonstrated that whole-exome sequencing show reveled ADCY5 mutation with early-onset generalized dystonia. | Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J. | 08/26/2017 |
| 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. | Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VSC, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. | 07/29/2017 |
| This study showed that ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.( | ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
Friedman JR, Méneret A, Chen DH, Trouillard O, Vidailhet M, Raskind WH, Roze E., Free PMC Article | 10/22/2016 |