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Select item 72534401.

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Iris G. M. Wijnen, Hermine E. Veenstra-Knol, Fleur Vansenne, Erica H. Gerkes, Tom de Koning, Yvonne J. Vos, Marina A. J. Tijssen, Deborah Sival, Niklas Darin, Els K. Vanhoutte, Mayke Oosterloo, Maartje Pennings, Bart P. van de Warrenburg, Erik-Jan Kamsteeg

Eur J Hum Genet. 2020 Jun; 28(6): 763–769. Published online 2020 Mar 10. doi: 10.1038/s41431-020-0600-5

PMCID:: PMC7253440

Abstract Article PDF–647K

Select item 68990892.

CAMTA-1 Expression in 24 Cases of Hepatic Epithelioid Hemangioendothelioma in a Single Institute: Diagnostic Utility for Differential Diagnosis from Hepatic Angiosarcoma

HERA JUNG, HAN-NA KIM, YUNJEONG JANG, CHEOL-KEUN PARK, SANG-YUN HA

In Vivo. 2019 Nov-Dec; 33(6): 2293–2297. Published online 2019 Nov 3. doi: 10.21873/invivo.11736

PMCID:: PMC6899089

Abstract Article PDF–415K

Select item 55563663.

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Isabella Fogh, Kuang Lin, Cinzia Tiloca, James Rooney, Cinzia Gellera, Frank P. Diekstra, Antonia Ratti, Aleksey Shatunov, Michael A. van Es, Petroula Proitsi, Ashley Jones, William Sproviero, Adriano Chiò, Russell Lewis McLaughlin, Gianni Sorarù, Lucia Corrado, Daniel Stahl, Roberto Del Bo, Cristina Cereda, Barbara Castellotti, Jonathan D. Glass, Steven Newhouse, Richard Dobson, Bradley N. Smith, Simon Topp, Wouter van Rheenen, Vincent Meininger, Judith Melki, Karen E. Morrison, Pamela J. Shaw, P. Nigel Leigh, Peter M. Andersen, Giacomo P. Comi, Nicola Ticozzi, Letizia Mazzini, Sandra D’Alfonso, Bryan J. Traynor, Philip Van Damme, Wim Robberecht, Robert H. Brown, John E. Landers, Orla Hardiman, Cathryn M. Lewis, Leonard H. van den Berg, Christopher E. Shaw, Jan H. Veldink, Vincenzo Silani, Ammar Al-Chalabi, John Powell

JAMA Neurol. Author manuscript; available in PMC 2017 Aug 15.

Published in final edited form as: JAMA Neurol. 2016 Jul 1; 73(7): 812–820. doi: 10.1001/jamaneurol.2016.1114

PMCID:: PMC5556366

Abstract Article PDF–612K

Select item 48849334.

Epithelioid hemangioendotheliomas with TFE3 gene translocations are compossible with CAMTA1 gene rearrangements

Seok Joo Lee, Woo Ick Yang, Woo-Suk Chung, Sang Kyum Kim

Oncotarget. 2016 Feb 16; 7(7): 7480–7488. Published online 2016 Jan 28. doi: 10.18632/oncotarget.7060

PMCID:: PMC4884933

Abstract Article PDF–1.8M

Select item 31993895.

CAMTA1 is a novel tumour suppressor regulated by miR-9/9^* in glioblastoma stem cells

Daniel Schraivogel, Lasse Weinmann, Dagmar Beier, Ghazaleh Tabatabai, Alexander Eichner, Jia Yun Zhu, Martina Anton, Michael Sixt, Michael Weller, Christoph P Beier, Gunter Meister

EMBO J. 2011 Oct 19; 30(20): 4309–4322. Published online 2011 Aug 19. doi: 10.1038/emboj.2011.301

PMCID:: PMC3199389

Abstract Article PDF–1.0M

Select item 42682256.

Thoracic Epithelioid Malignant Vascular Tumors: A Clinicopathologic Study of 52 Cases with Emphasis on Pathologic Grading and Molecular Studies of WWTR1-CAMTA1 Fusions

Todd Anderson, Lei Zhang, Meera Hameed, Valerie Rusch, William D. Travis, Cristina R. Antonescu

Am J Surg Pathol. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Am J Surg Pathol. 2015 Jan; 39(1): 132–139. doi: 10.1097/PAS.0000000000000346

PMCID:: PMC4268225

Abstract Article PDF–1.5M

Select item 33619037.

Monoclonality of Multifocal Epithelioid Hemangioendothelioma of the Liver by Analysis of WWTR1-CAMTA1 Breakpoints

Costantino Errani, Yun Shao Sung, Lei Zhang, John H. Healey, Cristina R. Antonescu

Cancer Genet. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Cancer Genet. 2012 Jan-Feb; 205(1-2): 12–17. doi: 10.1016/j.cancergen.2011.10.008

PMCID:: PMC3361903

Abstract Article PDF–3.4M

Select item 32646788.

A Novel WWTR1-CAMTA1 Gene Fusion is a Consistent Abnormality in Epithelioid Hemangioendothelioma of Different Anatomic Sites

Costantino Errani, Lei Zhang, Sung Yun Shao, Mihai Hajdu, Samuel Singer, Robert G Maki, John H Healey, Cristina R Antonescu

Genes Chromosomes Cancer. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Genes Chromosomes Cancer. 2011 Aug; 50(8): 644–653. Published online 2011 May 16. doi: 10.1002/gcc.20886

PMCID:: PMC3264678

Abstract Article PDF–2.5M

Select item 63267859.

TDP-43 enhances translation of specific mRNAs linked to neurodegenerative disease

Nagammal Neelagandan, Giorgio Gonnella, Stefan Dang, Philipp C Janiesch, Katharine K Miller, Katrin Küchler, Rita F Marques, Daniela Indenbirken, Malik Alawi, Adam Grundhoff, Stefan Kurtz, Kent E Duncan

Nucleic Acids Res. 2019 Jan 10; 47(1): 341–361. Published online 2018 Oct 24. doi: 10.1093/nar/gky972

PMCID:: PMC6326785

Abstract Article PDF–3.0M

Select item 623062510.

Molecular Markers Distinguishing T Cell Subtypes With TSDR Strand-Bias Methylation

Ekaterina Minskaia, Barbara C. Saraiva, Maria M. V. Soares, Rita I. Azevedo, Ruy M. Ribeiro, Saumya D. Kumar, Ana I. S. Vieira, João F. Lacerda

Front Immunol. 2018; 9: 2540. Published online 2018 Nov 5. doi: 10.3389/fimmu.2018.02540

PMCID:: PMC6230625

Abstract Article PDF–5.0M

Select item 498345911.

Mechanism of action of a WWTR1(TAZ)-CAMTA1 fusion oncoprotein

MR Tanas, S Ma, FO Jadaan, CKY Ng, B Weigelt, JS Reis-Filho, BP Rubin

Oncogene. Author manuscript; available in PMC 2016 Aug 14.

Published in final edited form as: Oncogene. 2016 Feb 18; 35(7): 929–938. Published online 2015 May 11. doi: 10.1038/onc.2015.148

PMCID:: PMC4983459

Abstract Article PDF–1.9M

Select item 337108612.

Calcium Dependent CAMTA1 in Adult Stem Cell Commitment to a Myocardial Lineage

Barbara Muller-Borer, Gwyn Esch, Rob Aldina, Woohyun Woon, Raymond Fox, Nenad Bursac, Sylvia Hiller, Nobuyuo Maeda, Neal Shepherd, Jian Ping Jin, Mary Hutson, Page Anderson, Margaret L. Kirby, Nadia N. Malouf

PLoS One. 2012; 7(6): e38454. Published online 2012 Jun 8. doi: 10.1371/journal.pone.0038454

PMCID:: PMC3371086

Abstract Article PDF–731K

Select item 814379713.

TAZ-CAMTA1 and YAP-TFE3 alter the TAZ/YAP transcriptome by recruiting the ATAC histone acetyltransferase complex

Nicole Merritt, Keith Garcia, Dushyandi Rajendran, Zhen-Yuan Lin, Xiaomeng Zhang, Katrina A Mitchell, Nicholas Borcherding, Colleen Fullenkamp, Michael S Chimenti, Anne-Claude Gingras, Kieran F Harvey, Munir R Tanas

eLife. 2021; 10: e62857. Published online 2021 Apr 29. doi: 10.7554/eLife.62857

PMCID:: PMC8143797

Abstract Article PDF–4.5M

Select item 416830714.

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty

Diana L. Cousminer, Evangelia Stergiakouli, Diane J. Berry, Wei Ang, Maria M. Groen-Blokhuis, Antje Körner, Niina Siitonen, Ioanna Ntalla, Marcella Marinelli, John R.B. Perry, Johannes Kettunen, Rick Jansen, Ida Surakka, Nicholas J. Timpson, Susan Ring, George Mcmahon, Chris Power, Carol Wang, Mika Kähönen, Jorma Viikari, Terho Lehtimäki, Christel M. Middeldorp, Hilleke E. Hulshoff Pol, Madlen Neef, Sebastian Weise, Katja Pahkala, Harri Niinikoski, Eleftheria Zeggini, Kalliope Panoutsopoulou, Mariona Bustamante, Brenda W.J.H. Penninx, the ReproGen Consortium, Joanne Murabito, Maties Torrent, George V. Dedoussis, Wieland Kiess, Dorret I. Boomsma, Craig E. Pennell, Olli T. Raitakari, Elina Hyppönen, George Davey Smith, Samuli Ripatti, Mark I. McCarthy, Elisabeth Widén, for the Early Growth Genetics (EGG) Consortium

Hum Mol Genet. 2014 Aug 15; 23(16): 4452–4464. Published online 2014 Apr 25. doi: 10.1093/hmg/ddu150

PMCID:: PMC4168307

Abstract Article PDF–595K

Select item 375720415.

MicroRNA-124 Suppresses the Transactivation of Nuclear Factor of Activated T Cells by Targeting Multiple Genes and Inhibits the Proliferation of Pulmonary Artery Smooth Muscle Cells

Kang Kang, Xiao Peng, Xiaoying Zhang, Yuna Wang, Lishu Zhang, Li Gao, Tingting Weng, Honghao Zhang, Ramaswamy Ramchandran, J. Usha Raj, Deming Gou, Lin Liu

J Biol Chem. 2013 Aug 30; 288(35): 25414–25427. Published online 2013 Jul 12. doi: 10.1074/jbc.M113.460287

PMCID:: PMC3757204

Abstract Article PDF–2.6M

Select item 428259416.

Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette Syndrome and Obsessive-Compulsive Disorder

Dongmei Yu, Carol A. Mathews, Jeremiah M. Scharf, Benjamin M. Neale, Lea K. Davis, Eric R. Gamazon, Eske M. Derks, Patrick Evans, Christopher K. Edlund, Jacquelyn Crane, Jesen A. Fagerness, Lisa Osiecki, Patience Gallagher, Gloria Gerber, Stephen Haddad, Cornelia Illmann, Lauren M. McGrath, Catherine Mayerfeld, Sampath Arepalli, Cristina Barlassina, Cathy L. Barr, Laura Bellodi, Fortu Benarroch, Gabriel Bedoya Berrió, O. Joseph Bienvenu, Donald Black, Michael H. Bloch, Helena Brentani, Ruth D. Bruun, Cathy L. Budman, Beatriz Camarena, Desmond D. Campbell, Carolina Cappi, Julio C. Cardona Silgado, Maria C. Cavallini, Denise A. Chavira, Sylvain Chouinard, Edwin H. Cook, M. R. Cookson, Vladimir Coric, Bernadette Cullen, Daniele Cusi, Richard Delorme, Damiaan Denys, Yves Dion, Valsama Eapen, Karin Egberts, Peter Falkai, Thomas Fernandez, Eduardo Fournier, Helena Garrido, Daniel Geller, Donald Gilbert, Simon L. Girard, Hans J. Grabe, Marco A. Grados, Benjamin D. Greenberg, Varda Gross-Tsur, Edna Grünblatt, John Hardy, Gary A. Heiman, Sian M.J. Hemmings, Luis D. Herrera, Dianne M. Hezel, Pieter J. Hoekstra, Joseph Jankovic, James L. Kennedy, Robert A. King, Anuar I. Konkashbaev, Barbara Kremeyer, Roger Kurlan, Nuria Lanzagorta, Marion Leboyer, James F. Leckman, Leonhard Lennertz, Chunyu Liu, Christine Lochner, Thomas L. Lowe, Sara Lupoli, Fabio Macciardi, Wolfgang Maier, Paolo Manunta, Maurizio Marconi, James T. McCracken, Sandra C. Mesa Restrepo, Rainald Moessner, Priya Moorjani, Jubel Morgan, Heike Muller, Dennis L. Murphy, Allan L. Naarden, William Cornejo Ochoa, Roel A. Ophoff, Andrew J. Pakstis, Michele T. Pato, Carlos N. Pato, John Piacentini, Christopher Pittenger, Yehuda Pollak, Scott L. Rauch, Tobias Renner, Victor I. Reus, Margaret A. Richter, Mark A. Riddle, Mary M. Robertson, Roxana Romero, Maria C. Rosário, David Rosenberg, Stephan Ruhrmann, Chiara Sabatti, Erika Salvi, Aline S. Sampaio, Jack Samuels, Paul Sandor, Susan K. Service, Brooke Sheppard, Harvey S. Singer, Jan H. Smit, Dan J. Stein, Eric Strengman, Jay A. Tischfield, Maurizio Turiel, Ana V. Valencia Duarte, Homero Vallada, Jeremy Veenstra-VanderWeele, Prof. Susanne Walitza, John Walkup, Ying Wang, Mike Weale, Robert Weiss, Jens R. Wendland, Herman G.M. Westenberg, Yin Yao, Ana G. Hounie, Euripedes C. Miguel, Humberto Nicolini, Michael Wagner, Andres Ruiz-Linares, Danielle C. Cath, William McMahon, Danielle Posthuma, Ben A. Oostra, Gerald Nestadt, Guy A. Rouleau, Shaun Purcell, Michael A. Jenike, Peter Heutink, Gregory L. Hanna, David V. Conti, Paul D. Arnold, Nelson Freimer, S. Evelyn Stewart, James A. Knowles, Nancy J. Cox, David L. Pauls

Am J Psychiatry. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Am J Psychiatry. 2015 Jan 1; 172(1): 82–93. Published online 2014 Oct 31. doi: 10.1176/appi.ajp.2014.13101306

PMCID:: PMC4282594

Abstract Article PDF–1005K

Select item 338310317.

Genome-wide Association Study of Periodontal Pathogen Colonization

K. Divaris, K.L. Monda, K.E. North, A.F. Olshan, E.M. Lange, K. Moss, S.P. Barros, J.D. Beck, S. Offenbacher

J Dent Res. 2012 Jul; 91(7 Suppl): S21–S28. doi: 10.1177/0022034512447951

PMCID:: PMC3383103

Abstract Article PDF–2.0M

Select item 389105418.

Genome-Wide Association Study Identifies Novel Loci Associated With Concentrations of Four Plasma Phospholipid Fatty Acids in the De Novo Lipogenesis Pathway: Results from the CHARGE Consortium

Jason H.Y. Wu, Rozenn N. Lemaitre, Ani Manichaikul, Weihua Guan, Toshiko Tanaka, Millennia Foy, Edmond K. Kabagambe, Luc Djousse, David Siscovick, Amanda M. Fretts, Catherine Johnson, Irena B. King, Bruce M. Psaty, Barbara McKnight, Stephen S. Rich, Yii-Der I. Chen, Jennifer A. Nettleton, Weihong Tang, Stefania Bandinelli, David R. Jacobs, Jr, Brian L. Browning, Cathy C. Laurie, Xiangjun Gu, Michael Y. Tsai, Lyn M. Steffen, Luigi Ferrucci, Myriam Fornage, Dariush Mozaffarian

Circ Cardiovasc Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Circ Cardiovasc Genet. 2013 Apr; 6(2): 171–183. Published online 2013 Jan 29. doi: 10.1161/CIRCGENETICS.112.964619

PMCID:: PMC3891054

Abstract Article PDF–1.9M

Select item 298736719.

Common genetic variation and performance on standardized cognitive tests

Elizabeth T Cirulli, Dalia Kasperavičiūtė, Deborah K Attix, Anna C Need, Dongliang Ge, Greg Gibson, David B Goldstein

Eur J Hum Genet. 2010 Jul; 18(7): 815–820. Published online 2010 Feb 3. doi: 10.1038/ejhg.2010.2

Correction in:: Eur J Hum Genet. 2010 Jul; 18(7): 820.

PMCID:: PMC2987367

Abstract Article PDF–273K

Select item 268575920.

Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk

Fotios Drenos, Philippa J. Talmud, Juan P. Casas, Liam Smeeth, Jutta Palmen, Steve E. Humphries, Aroon D. Hingorani

Hum Mol Genet. 2009 Jun 15; 18(12): 2305–2316. Published online 2009 Mar 31. doi: 10.1093/hmg/ddp159

PMCID:: PMC2685759

Abstract Article PDF–530K

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