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Select item 106550441.

Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene

Milos Kostic, Joseph J. Raymond, Christophe A. C. Freyre, Beata Henry, Tayfun Tumkaya, Jivan Khlghatyan, Jill Dvornik, Jingyao Li, Jack S. Hsiao, Seon Hye Cheon, Jonathan Chung, Yishan Sun, Ricardo E. Dolmetsch, Kathleen A. Worringer, Robert J. Ihry

ACS Chem Neurosci. 2023 Nov 15; 14(22): 3993–4012. Published online 2023 Oct 30. doi: 10.1021/acschemneuro.3c00442

PMCID:: PMC10655044

Abstract Article PDF–4.6M

Select item 97340452.

Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits

Aet O’Leary, Noèlia Fernàndez-Castillo, Gabriela Gan, Yunbo Yang, Anna Y. Yotova, Thorsten M. Kranz, Lena Grünewald, Florian Freudenberg, Ester Antón-Galindo, Judit Cabana-Domínguez, Anais Harneit, Janina I. Schweiger, Kristina Schwarz, Ren Ma, Junfang Chen, Emanuel Schwarz, Marcella Rietschel, Heike Tost, Andreas Meyer-Lindenberg, Christiane A. Pané-Farré, Tilo Kircher, Alfons O. Hamm, Demian Burguera, Nina Roth Mota, Barbara Franke, Susann Schweiger, Jennifer Winter, Andreas Heinz, Susanne Erk, Nina Romanczuk-Seiferth, Henrik Walter, Andreas Ströhle, Lydia Fehm, Thomas Fydrich, Ulrike Lueken, Heike Weber, Thomas Lang, Alexander L. Gerlach, Markus M. Nöthen, Georg W. Alpers, Volker Arolt, Stephanie Witt, Jan Richter, Benjamin Straube, Bru Cormand, David A. Slattery, Andreas Reif

Mol Psychiatry. 2022; 27(11): 4464–4473. Published online 2022 Aug 10. doi: 10.1038/s41380-022-01722-4

PMCID:: PMC9734045

Abstract Article PDF–2.3M

Select item 73095753.

Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease

Neha S. Raghavan, Logan Dumitrescu, Elizabeth Mormino, Emily R. Mahoney, Annie J. Lee, Yizhe Gao, Murat Bilgel, David Goldstein, Theresa Harrison, Corinne D. Engelman, Andrew J. Saykin, Christopher D. Whelan, Jimmy Z. Liu, William Jagust, Marilyn Albert, Sterling C. Johnson, Hyun-Sik Yang, Keith Johnson, Paul Aisen, Susan M. Resnick, Reisa Sperling, Philip L. De Jager, Julie Schneider, David A. Bennett, Matthew Schrag, Badri Vardarajan, Timothy J. Hohman, Richard Mayeux

JAMA Neurol. 2020 Oct; 77(10): 1–11. Published online 2020 Jun 22. doi: 10.1001/jamaneurol.2020.1760

PMCID:: PMC7309575

Abstract Article

Select item 57378494.

Structural study of the Fox-1 RRM protein hydration reveals a role for key water molecules in RRM-RNA recognition

Miroslav Krepl, Markus Blatter, Antoine Cléry, Fred F. Damberger, Frédéric H.T. Allain, Jiri Sponer

Nucleic Acids Res. 2017 Jul 27; 45(13): 8046–8063. Published online 2017 May 13. doi: 10.1093/nar/gkx418

PMCID:: PMC5737849

Abstract Article PDF–4.8M

Select item 53863025.

Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure

Karen Y. He, Heming Wang, Brian E. Cade, Priyanka Nandakumar, Ayush Giri, Erin B. Ware, Jeffrey Haessler, Jingjing Liang, Jennifer A. Smith, Nora Franceschini, Thu H. Le, Charles Kooperberg, Todd L. Edwards, Sharon L. R. Kardia, Xihong Lin, Aravinda Chakravarti, Susan Redline, Xiaofeng Zhu

PLoS Genet. 2017 Mar; 13(3): e1006678. Published online 2017 Mar 27. doi: 10.1371/journal.pgen.1006678

PMCID:: PMC5386302

Abstract Article PDF–1.6M

Select item 45372686.

Generalised Anxiety Disorder – A Twin Study of Genetic Architecture, Genome-Wide Association and Differential Gene Expression

Matthew N. Davies, Serena Verdi, Andrea Burri, Maciej Trzaskowski, Minyoung Lee, John M. Hettema, Rick Jansen, Dorret I. Boomsma, Tim D. Spector

PLoS One. 2015; 10(8): e0134865. Published online 2015 Aug 14. doi: 10.1371/journal.pone.0134865

PMCID:: PMC4537268

Abstract Article PDF–2.7M

Select item 43185177.

Orchestration of Neurodevelopmental Programs by RBFOX1: Implications for Autism Spectrum Disorder

Brent R. Bill, Jennifer K. Lowe, Christina T. DyBuncio, Brent L. Fogel

Int Rev Neurobiol. Author manuscript; available in PMC 2015 Feb 5.

Published in final edited form as: Int Rev Neurobiol. 2013; 113: 251–267. doi: 10.1016/B978-0-12-418700-9.00008-3

PMCID:: PMC4318517

Abstract Article PDF–737K

Select item 36748068.

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

Dwight Stambolian, Robert Wojciechowski, Konrad Oexle, Mario Pirastu, Xiaohui Li, Leslie J. Raffel, Mary Frances Cotch, Emily Y. Chew, Barbara Klein, Ronald Klein, Tien Y. Wong, Claire L. Simpson, Caroline C.W. Klaver, Cornelia M. van Duijn, Virginie J.M. Verhoeven, Paul N. Baird, Veronique Vitart, Andrew D. Paterson, Paul Mitchell, Seang Mei Saw, Maurizio Fossarello, Krista Kazmierkiewicz, Federico Murgia, Laura Portas, Maria Schache, Andrea Richardson, Jing Xie, Jie Jin Wang, Elena Rochtchina, DCCT/EDIC Research Group, Ananth C. Viswanathan, Caroline Hayward, Alan F. Wright, Ozren Polašek, Harry Campbell, Igor Rudan, Ben A. Oostra, André G. Uitterlinden, Albert Hofman, Fernando Rivadeneira, Najaf Amin, Lennart C. Karssen, Johannes R. Vingerling, S.M. Hosseini, Angela Döring, Thomas Bettecken, Zoran Vatavuk, Christian Gieger, H.-Erich Wichmann, James F. Wilson, Brian Fleck, Paul J. Foster, Fotis Topouzis, Peter McGuffin, Xueling Sim, Michael Inouye, Elizabeth G. Holliday, John Attia, Rodney J. Scott, Jerome I. Rotter, Thomas Meitinger, Joan E. Bailey-Wilson

Hum Mol Genet. 2013 Jul 1; 22(13): 2754–2764. Published online 2013 Mar 7. doi: 10.1093/hmg/ddt116

PMCID:: PMC3674806

Abstract Article PDF–182K

Select item 35447149.

Analysis of colorectal cancers in British Bangladeshi identifies early onset, frequent mucinous histotype and a high prevalence of RBFOX1 deletion

Neel Sengupta, Christopher Yau, Anuratha Sakthianandeswaren, Dmitri Mouradov, Peter Gibbs, Nirosha Suraweera, Jean-Baptiste Cazier, Guadalupe Polanco-Echeverry, Anil Ghosh, Mohamed Thaha, Shafi Ahmed, Roger Feakins, David Propper, Sina Dorudi, Oliver Sieber, Andrew Silver, Cecilia Lai

Mol Cancer. 2013; 12: 1. Published online 2013 Jan 3. doi: 10.1186/1476-4598-12-1

PMCID:: PMC3544714

Abstract Article PDF–1.6M

Select item 344111910.

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

Brent L. Fogel, Eric Wexler, Amanda Wahnich, Tara Friedrich, Chandran Vijayendran, Fuying Gao, Neelroop Parikshak, Genevieve Konopka, Daniel H. Geschwind

Hum Mol Genet. 2012 Oct 1; 21(19): 4171–4186. Published online 2012 Jun 23. doi: 10.1093/hmg/dds240

PMCID:: PMC3441119

Abstract Article PDF–749K

Select item 277723611.

Fox-1 family of RNA-binding proteins

Hidehito Kuroyanagi

Cell Mol Life Sci. 2009 Dec; 66(24): 3895–3907. Published online 2009 Aug 18. doi: 10.1007/s00018-009-0120-5

PMCID:: PMC2777236

Abstract Article PDF–1.4M

Select item 272937012.

A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium

G Zhai, J B J van Meurs, G Livshits, I Meulenbelt, A M Valdes, N Soranzo, D Hart, F Zhang, B S Kato, J B Richards, F M K Williams, M Inouye, M Kloppenburg, P Deloukas, E Slagboom, A Uitterlinden, T D Spector

J Med Genet. 2009 Sep; 46(9): 614–616. Published online 2009 Jun 24. doi: 10.1136/jmg.2009.067314

PMCID:: PMC2729370

Abstract Article PDF–178K

Select item 135636113.

Molecular basis of RNA recognition by the human alternative splicing factor Fox-1

Sigrid D Auweter, Rudi Fasan, Luc Reymond, Jason G Underwood, Douglas L Black, Stefan Pitsch, Frédéric H-T Allain

EMBO J. 2006 Jan 11; 25(1): 163–173. Published online 2005 Dec 15. doi: 10.1038/sj.emboj.7600918

PMCID:: PMC1356361

Abstract Article PDF–610K

Select item 529126314.

Synergy between NMR measurements and MD simulations of protein/RNA complexes: application to the RRMs, the most common RNA recognition motifs

Miroslav Krepl, Antoine Cléry, Markus Blatter, Frederic H.T. Allain, Jiri Sponer

Nucleic Acids Res. 2016 Jul 27; 44(13): 6452–6470. Published online 2016 May 18. doi: 10.1093/nar/gkw438

PMCID:: PMC5291263

Abstract Article PDF–5.0M

Select item 485841215.

Cytoplasmic Rbfox1 regulates the expression of synaptic and autism-related genes

Ji-Ann Lee, Andrey Damianov, Chia-Ho Lin, Mariana Fontes, Neelroop N. Parikshak, Erik S. Anderson, Daniel H. Geschwind, Douglas L. Black, Kelsey C. Martin

Neuron. Author manuscript; available in PMC 2017 Jan 6.

Published in final edited form as: Neuron. 2016 Jan 6; 89(1): 113–128. Published online 2015 Dec 10. doi: 10.1016/j.neuron.2015.11.025

PMCID:: PMC4858412

Abstract Article PDF–2.6M

Select item 416139416.

RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1

Roscoe Klinck, Angélique Fourrier, Philippe Thibault, Johanne Toutant, Mathieu Durand, Elvy Lapointe, Marie-Laure Caillet-Boudin, Nicolas Sergeant, Geneviève Gourdon, Giovanni Meola, Denis Furling, Jack Puymirat, Benoit Chabot

PLoS One. 2014; 9(9): e107324. Published online 2014 Sep 11. doi: 10.1371/journal.pone.0107324

PMCID:: PMC4161394

Abstract Article PDF–844K

Select item 401959717.

Genetic Influences on Hand Osteoarthritis in Finnish Women – A Replication Study of Candidate Genes

Satu Hämäläinen, Svetlana Solovieva, Tapio Vehmas, Katariina Luoma, Päivi Leino-Arjas, Ari Hirvonen

PLoS One. 2014; 9(5): e97417. Published online 2014 May 13. doi: 10.1371/journal.pone.0097417

PMCID:: PMC4019597

Abstract Article PDF–230K

Select item 376519718.

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer

PLoS One. 2013; 8(9): e73323. Published online 2013 Sep 6. doi: 10.1371/journal.pone.0073323

Correction in:: PLoS One. 2013; 8(10): 10.1371/annotation/f6aed47b-9135-45f5-bfdd-f4ceb33c8561.

PMCID:: PMC3765197

Abstract Article PDF–486K

Select item 326491419.

Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2

Shuying Sun, Zuo Zhang, Oliver Fregoso, Adrian R. Krainer

RNA. 2012 Feb; 18(2): 274–283. doi: 10.1261/rna.030486.111

PMCID:: PMC3264914

Abstract Article PDF–789K

Select item 296354220.

Evaluation of A2BP1 as an Obesity Gene

Lijun Ma, Robert L. Hanson, Michael T. Traurig, Yunhua L. Muller, Bakhshish P. Kaur, Jessica M. Perez, David Meyre, Mao Fu, Antje Körner, Paul W. Franks, Wieland Kiess, Sayuko Kobes, William C. Knowler, Peter Kovacs, Philippe Froguel, Alan R. Shuldiner, Clifton Bogardus, Leslie J. Baier

Diabetes. 2010 Nov; 59(11): 2837–2845. Published online 2010 Aug 19. doi: 10.2337/db09-1604

PMCID:: PMC2963542

Abstract Article PDF–413K

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