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Select item 95696911.

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

Select item 78331702.

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 76745683.

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 70673924.

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 66225135.

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 61666826.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 58603747.

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 55614228.

Genetic Associations with Gestational Length and Spontaneous Preterm Birth

Ge Zhang, Bjarke Feenstra, Jonas Bacelis, Xueping Liu, Lisa M. Muglia, Julius Juodakis, Daniel E. Miller, Nadia Litterman, Pan-Pan Jiang, Laura Russell, David A. Hinds, Youna Hu, Matthew T. Weirauch, Xiaoting Chen, Arun R. Chavan, Günter P. Wagner, Mihaela Pavličev, Mauris C. Nnamani, Jamie Maziarz, Minna K. Karjalainen, Mika Rämet, Verena Sengpiel, D Frank Geller, Heather A. Boyd, Aarno Palotie, Allison Momany, Bruce Bedell, Kelli K. Ryckman, Johanna M. Huusko, Carmy R. Forney, Leah C. Kottyan, Mikko Hallman, Kari Teramo, Ellen A. Nohr, George Davey-Smith, Mads Melbye, Bo Jacobsson, Louis J. Muglia

N Engl J Med. Author manuscript;

Published in final edited form as: N Engl J Med. 2017 Sep 6; 377(12): 1156–1167. Published online 2017 Sep 6. doi: 10.1056/NEJMoa1612665

PMCID:: PMC5561422

Abstract Article PDF–1.9M

Select item 55495079.

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 535938310.

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 495000311.

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 482294612.

Risk Alleles in/near ADCY5, ADRA2A, CDKAL1, CDKN2A/B, GRB10, and TCF7L2 Elevate Plasma Glucose Levels at Birth and in Early Childhood: Results from the FAMILY Study

Zahra N. Sohani, Sonia S. Anand, Sebastien Robiou-du-Pont, Katherine M. Morrison, Sarah D. McDonald, Stephanie A. Atkinson, Koon K. Teo, David Meyre

PLoS One. 2016; 11(4): e0152107. Published online 2016 Apr 6. doi: 10.1371/journal.pone.0152107

PMCID:: PMC4822946

Abstract Article PDF–214K

Select item 472429613.

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 450193714.

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 445732315.

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 436811216.

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 416656717.

Differential dopamine receptor subtype regulation of adenylyl cyclases in lipid rafts in human embryonic kidney and renal proximal tubule cells

Peiying Yu, Min Sun, Van Anthony M. Villar, Yanrong Zhang, Edward J. Weinman, Robin A. Felder, Pedro A. Jose

Cell Signal. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Cell Signal. 2014 Nov; 26(11): 2521–2529. Published online 2014 Jul 15. doi: 10.1016/j.cellsig.2014.07.003

PMCID:: PMC4166567

Abstract Article PDF–526K

Select item 414136418.

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 396961219.

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, South Asian Type 2 Diabetes (SAT2D) Consortium, Mexican American Type 2 Diabetes (MAT2D) Consortium, Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) Consortium

Nat Genet. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Nat Genet. 2014 Mar; 46(3): 234–244. Published online 2014 Feb 9. doi: 10.1038/ng.2897

PMCID:: PMC3969612

Abstract Article PDF–725K

Select item 394144620.

Dynamic Regulation of cAMP Synthesis through Anchored PKA-Adenylyl Cyclase V/VI Complexes

Andrea L. Bauman, Joseph Soughayer, Bao T. Nguyen, Debbie Willoughby, Graeme K. Carnegie, Wei Wong, Naoto Hoshi, Lorene K. Langeberg, Dermot M.F. Cooper, Carmen W. Dessauer, John D. Scott

Mol Cell. Author manuscript; available in PMC 2014 Mar 4.

Published in final edited form as: Mol Cell. 2006 Sep 15; 23(6): 925–931. doi: 10.1016/j.molcel.2006.07.025

PMCID:: PMC3941446

Abstract Article PDF–2.3M

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