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Select item 76745681.

Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series

Ana Luísa de Almeida Marcelino, Tina Mainka, Patricia Krause, Werner Poewe, Christos Ganos, Andrea A. Kühn

J Neurol. 2020; 267(12): 3624–3631. Published online 2020 Jul 9. doi: 10.1007/s00415-020-09871-8

PMCID:: PMC7674568

Abstract Article PDF–551K

Select item 70673922.

Common genetic variants in ADCY5 and gestational glycemic traits

Rong Lin, Ziyu Yuan, Caicai Zhang, Hongfang Ju, Yuantian Sun, Na Huang, Langxin Chen, Li Jin

PLoS One. 2020; 15(3): e0230032. Published online 2020 Mar 12. doi: 10.1371/journal.pone.0230032

PMCID:: PMC7067392

Abstract Article PDF–1016K

Select item 66225133.

Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements

Aurélie Méneret, Emmanuel Roze, Jean-Baptiste Maranci, Pauline Dodet, Diane Doummar, Florence Riant, Christine Tranchant, Valérie Fraix, Mathieu Anheim, Asya Ekmen, Eavan McGovern, Marie Vidailhet, Isabelle Arnulf, Smaranda Leu-Semenescu

J Clin Sleep Med. 2019 Jul 15; 15(7): 1021–1029. Published online 2019 Jul 15. doi: 10.5664/jcsm.7886

PMCID:: PMC6622513

Abstract Article PDF–637K

Select item 58603744.

A Type 2 Diabetes–Associated Functional Regulatory Variant in a Pancreatic Islet Enhancer at the ADCY5 Locus

Tamara S. Roman, Maren E. Cannon, Swarooparani Vadlamudi, Martin L. Buchkovich, Brooke N. Wolford, Ryan P. Welch, Mario A. Morken, Grace J. Kwon, Arushi Varshney, Romy Kursawe, Ying Wu, Anne U. Jackson, National Institutes of Health Intramural Sequencing Center (NISC) Comparative Sequencing Program, Michael R. Erdos, Johanna Kuusisto, Markku Laakso, Laura J. Scott, Michael Boehnke, Francis S. Collins, Stephen C.J. Parker, Michael L. Stitzel, Karen L. Mohlke

Diabetes. 2017 Sep; 66(9): 2521–2530. Published online 2017 Jul 6. doi: 10.2337/db17-0464

PMCID:: PMC5860374

Abstract Article PDF–1.1M

Select item 55495075.

Miryam Carecchio, Niccolò E. Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P. Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci

Parkinsonism Relat Disord. 2017 Aug; 41: 37–43. doi: 10.1016/j.parkreldis.2017.05.004

PMCID:: PMC5549507

Abstract Article PDF–408K

Select item 53593836.

Andrew G. L. Douglas, Gaia Andreoletti, Kevin Talbot, Simon R. Hammans, Jaspal Singh, Andrea Whitney, Sarah Ennis, Nicola C. Foulds

Neurogenetics. 2017; 18(2): 111–117. Published online 2017 Feb 22. doi: 10.1007/s10048-017-0510-z

PMCID:: PMC5359383

Abstract Article PDF–780K

Select item 49500037.

Phenotypic insights into ADCY5‐associated disease

Florence C.F. Chang, Ana Westenberger, Russell C. Dale, Martin Smith, Hardev S. Pall, Belen Perez‐Dueñas, Padraic Grattan‐Smith, Robert A. Ouvrier, Neil Mahant, Bernadette C. Hanna, Matthew Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G.L. Morris, Alex Münchau, Detelina Grozeva, Keren J. Carss, Lucy Raymond, Manju A. Kurian, Christine Klein, Victor S.C. Fung

Mov Disord. 2016 Jul; 31(7): 1033–1040. Published online 2016 Apr 8. doi: 10.1002/mds.26598

PMCID:: PMC4950003

Abstract Article PDF–366K

Select item 47242968.

ADCY5 Mutation Carriers Display Pleiotropic Paroxysmal Day and Nighttime Dyskinesias

Jennifer R Friedman, Aurélie Méneret, Dong-Hui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H. Raskind, Emmanuel Roze

Mov Disord. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Mov Disord. 2016 Jan; 31(1): 147–148. Published online 2015 Dec 21. doi: 10.1002/mds.26494

PMCID:: PMC4724296

Article PDF–370K

Select item 45019379.

ADCY5 mutations are another cause of benign hereditary chorea

Niccolo E. Mencacci, Roberto Erro, Sarah Wiethoff, Joshua Hersheson, Mina Ryten, Bettina Balint, Christos Ganos, Maria Stamelou, Niall Quinn, Henry Houlden, Nicholas W. Wood, Kailash P. Bhatia

Neurology. 2015 Jul 7; 85(1): 80–88. doi: 10.1212/WNL.0000000000001720

PMCID:: PMC4501937

Abstract Article PDF–651K

Select item 286323510.

AKAP79 Interacts with Multiple Adenylyl Cyclase (AC) Isoforms and Scaffolds AC5 and -6 to α-Amino-3-hydroxyl-5-methyl-4-isoxazole-propionate (AMPA) Receptors

Riad Efendiev, Bret K. Samelson, Bao T. Nguyen, Prasad V. Phatarpekar, Faiza Baameur, John D. Scott, Carmen W. Dessauer

J Biol Chem. 2010 May 7; 285(19): 14450–14458. Published online 2010 Mar 15. doi: 10.1074/jbc.M110.109769

PMCID:: PMC2863235

Abstract Article PDF–2.1M

Select item 278473111.

N Terminus of Type 5 Adenylyl Cyclase Scaffolds G_s Heterotrimer

Rachna Sadana, Nathan Dascal, Carmen W. Dessauer

Mol Pharmacol. 2009 Dec; 76(6): 1256–1264. doi: 10.1124/mol.109.058370

PMCID:: PMC2784731

Abstract Article PDF–1.2M

Select item 783317012.

Gα_i1 inhibition mechanism of ATP-bound adenylyl cyclase type 5

Daniele Narzi, Siri C. van Keulen, Ursula Röthlisberger

PLoS One. 2021; 16(1): e0245197. Published online 2021 Jan 25. doi: 10.1371/journal.pone.0245197

PMCID:: PMC7833170

Abstract Article PDF–2.7M

Select item 445732313.

Gain-of-Function ADCY5 Mutations in Familial Dyskinesia with Facial Myokymia

Ying-Zhang Chen, Jennifer R. Friedman, Dong-Hui Chen, Guy C.-K. Chan, Cinnamon S. Bloss, Fuki M. Hisama, Sarah E. Topol, Andrew R. Carson, Phillip H. Pham, Emily S. Bonkowski, Erick R. Scott, Janel K. Lee, Guangfa Zhang, Glenn Oliveira, Jian Xu, Ashley A. Scott-Van Zeeland, Qi Chen, Samuel Levy, Eric J. Topol, Daniel Storm, Phillip D. Swanson, Thomas D. Bird, Nicholas J. Schork, Wendy H. Raskind, Ali Torkamani

Ann Neurol. Author manuscript; available in PMC 2015 Jun 5.

Published in final edited form as: Ann Neurol. 2014 Apr; 75(4): 542–549. Published online 2014 Mar 13. doi: 10.1002/ana.24119

PMCID:: PMC4457323

Abstract Article PDF–1.6M

Select item 436811214.

ADCY5 Gene Expression in Adipose Tissue Is Related to Obesity in Men and Mice

Anja Knigge, Nora Klöting, Michael R. Schön, Arne Dietrich, Mathias Fasshauer, Daniel Gärtner, Tobias Lohmann, Miriam Dreßler, Michael Stumvoll, Peter Kovacs, Matthias Blüher

PLoS One. 2015; 10(3): e0120742. Published online 2015 Mar 20. doi: 10.1371/journal.pone.0120742

PMCID:: PMC4368112

Abstract Article PDF–204K

Select item 414136415.

ADCY5 Couples Glucose to Insulin Secretion in Human Islets

David J. Hodson, Ryan K. Mitchell, Lorella Marselli, Timothy J. Pullen, Silvia Gimeno Brias, Francesca Semplici, Katy L. Everett, Dermot M.F. Cooper, Marco Bugliani, Piero Marchetti, Vanessa Lavallard, Domenico Bosco, Lorenzo Piemonti, Paul R. Johnson, Stephen J. Hughes, Daliang Li, Wen-Hong Li, A.M. James Shapiro, Guy A. Rutter

Diabetes. 2014 Sep; 63(9): 3009–3021. Published online 2014 Aug 16. doi: 10.2337/db13-1607

PMCID:: PMC4141364

Abstract Article PDF–6.0M

Select item 362093216.

Genetic Markers of Co-Morbid Depression and Alcoholism in Women

Daniela O. Procopio, Laura M. Saba, Henriette Walter, Otto Lesch, Katrin Skala, Golda Schlaff, Lauren Vanderlinden, Peter Clapp, Paula L. Hoffman, Boris Tabakoff

Alcohol Clin Exp Res. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Alcohol Clin Exp Res. 2013 Jun; 37(6): 896–904. Published online 2012 Dec 27. doi: 10.1111/acer.12060

PMCID:: PMC3620932

Abstract Article PDF–1.2M

Select item 332249317.

Genome-wide DNA methylation profiling of chronic lymphocytic leukemia allows identification of epigenetically repressed molecular pathways with clinical impact

Wei-Gang Tong, William G. Wierda, E. Lin, Shao-Qing Kuang, B. Nebiyou Bekele, Zeev Estrov, Yue Wei, Hui Yang, Michael J Keating, Guillermo Garcia-Manero

Epigenetics. 2010 Aug 16; 5(6): 499–508. doi: 10.4161/epi.5.6.12179

PMCID:: PMC3322493

Abstract Article PDF–2.3M

Select item 317676718.

Effects of 16 Genetic Variants on Fasting Glucose and Type 2 Diabetes in South Asians: ADCY5 and GLIS3 Variants May Predispose to Type 2 Diabetes

Simon D. Rees, M. Zafar I. Hydrie, J. Paul O'Hare, Sudhesh Kumar, A. Samad Shera, Abdul Basit, Anthony H. Barnett, M. Ann Kelly

PLoS One. 2011; 6(9): e24710. Published online 2011 Sep 20. doi: 10.1371/journal.pone.0024710

PMCID:: PMC3176767

Abstract Article PDF–414K

Select item 311967719.

Absence of Birth-Weight Lowering Effect of ADCY5 and Near CCNL, but Association of Impaired Glucose-Insulin Homeostasis with ADCY5 in Asian Indians

Senthil K. Vasan, Matt J. Neville, Belavendra Antonisamy, Prasanna Samuel, Caroline H. Fall, Finney S. Geethanjali, Nihal Thomas, Palany Raghupathy, Kerstin Brismar, Fredrik Karpe

PLoS One. 2011; 6(6): e21331. Published online 2011 Jun 21. doi: 10.1371/journal.pone.0021331

PMCID:: PMC3119677

Abstract Article PDF–96K

Select item 956969120.

Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men

Berenice Rivera-Paredez, Diana I. Aparicio-Bautista, Anna D. Argoty-Pantoja, Nelly Patiño, Jeny Flores Morales, Jorge Salmerón, Guadalupe León-Reyes, Rafael Velázquez-Cruz

Int J Mol Sci. 2022 Oct; 23(19): 11815. Published online 2022 Oct 5. doi: 10.3390/ijms231911815

PMCID:: PMC9569691

Abstract Article PDF–1.3M

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