PMC Links for Gene (Select 27255) - PMC

Select item 53788081.

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

O Mercati, G Huguet, A Danckaert, G André-Leroux, A Maruani, M Bellinzoni, T Rolland, L Gouder, A Mathieu, J Buratti, F Amsellem, M Benabou, J Van-Gils, A Beggiato, M Konyukh, J-P Bourgeois, M J Gazzellone, R K C Yuen, S Walker, M Delépine, A Boland, B Régnault, M Francois, T Van Den Abbeele, A L Mosca-Boidron, L Faivre, Y Shimoda, K Watanabe, D Bonneau, M Rastam, M Leboyer, S W Scherer, C Gillberg, R Delorme, I Cloëz-Tayarani, T Bourgeron

Mol Psychiatry. 2017 Apr; 22(4): 625–633. Published online 2016 May 10. doi: 10.1038/mp.2016.61

PMCID:: PMC5378808

Abstract Article PDF–484K

Select item 45283952.

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders

Jie Hu, Jun Liao, Malini Sathanoori, Sally Kochmar, Jessica Sebastian, Svetlana A. Yatsenko, Urvashi Surti

J Neurodev Disord. 2015; 7(1): 26. Published online 2015 Aug 6. doi: 10.1186/s11689-015-9122-9

PMCID:: PMC4528395

Abstract Article PDF–1.6M

Select item 42998083.

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

Anna A Kashevarova, Lyudmila P Nazarenko, Soren Schultz-Pedersen, Nikolay A Skryabin, Olga A Salyukova, Nataliya N Chechetkina, Ekaterina N Tolmacheva, Aleksey A Rudko, Pamela Magini, Claudio Graziano, Giovanni Romeo, Shelagh Joss, Zeynep Tümer, Igor N Lebedev

Mol Cytogenet. 2014; 7: 97. Published online 2014 Dec 31. doi: 10.1186/s13039-014-0097-0

PMCID:: PMC4299808

Abstract Article PDF–1.3M

Select item 55682514.

Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome

Alden Y. Huang, Dongmei Yu, Lea K. Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A. Chen, Lauren M. McGrath, Cornelia Illmann, Paul Sandor, Cathy L. Barr, Marco Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Robert A. King, Yves Dion, Guy Rouleau, Cathy L. Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R. Muller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J. Lyon, William M. McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R. Batterson, Renata Rizzo, Danielle C. Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A. Malaty, Michael S. Okun, Douglas W. Woods, Elliott Rees, Carlos N. Pato, Michele T. Pato, James A Knowles, Danielle Posthuma, David L. Pauls, Nancy J. Cox, Benjamin M. Neale, Nelson B. Freimer, Peristera Paschou, Carol A. Mathews, Jeremiah M. Scharf, Giovanni Coppola

Neuron. Author manuscript; available in PMC 2018 Jun 21.

Published in final edited form as: Neuron. 2017 Jun 21; 94(6): 1101–1111.e7. doi: 10.1016/j.neuron.2017.06.010

PMCID:: PMC5568251

Abstract Article PDF–1.3M

Select item 32443965.

Genome-Wide Association Study in Bipolar Patients Stratified by Co-Morbidity

Berit Kerner, Christophe G. Lambert, Bengt O. Muthén

PLoS One. 2011; 6(12): e28477. Published online 2011 Dec 21. doi: 10.1371/journal.pone.0028477

PMCID:: PMC3244396

Abstract Article PDF–441K

Select item 39904066.

A genome-wide association study for venous thromboembolism: the extended Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

Weihong Tang, Martina Teichert, Daniel I. Chasman, John A. Heit, Pierre-Emmanuel Morange, Guo Li, Nathan Pankratz, Frank W. Leebeek, Guillaume Paré, Mariza de Andrade, Christophe Tzourio, Bruce M. Psaty, Saonli Basu, Rikje Ruiter, Lynda Rose, Sebastian M. Armasu, Thomas Lumley, Susan R. Heckbert, André G. Uitterlinden, Mark Lathrop, Kenneth M. Rice, Mary Cushman, Albert Hofman, Jean-Charles Lambert, Nicole L. Glazer, James S. Pankow, Jacqueline C. Witteman, Philippe Amouyel, Joshua C. Bis, Edwin G. Bovill, Xiaoxiao Kong, Russell P. Tracy, Eric Boerwinkle, Jerome I. Rotter, David-Alexandre Trégouët, Daan W. Loth, Bruno H. Ch. Stricker, Paul M Ridker, Aaron R. Folsom, Nicholas L. Smith

Genet Epidemiol. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Genet Epidemiol. 2013 Jul; 37(5): 512–521. Published online 2013 May 5. doi: 10.1002/gepi.21731

PMCID:: PMC3990406

Abstract Article PDF–441K

Select item 22061217.

Neural recognition molecules CHL1 and NB-3 regulate apical dendrite orientation in the neocortex via PTPα

Haihong Ye, Yen Ling Jessie Tan, Sathivel Ponniah, Yasuo Takeda, Shi-Qiang Wang, Melitta Schachner, Kazutada Watanabe, Catherine J Pallen, Zhi-Cheng Xiao

EMBO J. 2008 Jan 9; 27(1): 188–200. Published online 2007 Nov 29. doi: 10.1038/sj.emboj.7601939

PMCID:: PMC2206121

Abstract Article PDF–874K

Select item 2754278.

Nogo-A at CNS paranodes is a ligand of Caspr: possible regulation of K⁺ channel localization

Du-Yu Nie, Zhi-Hong Zhou, Beng-Ti Ang, Felicia Y.H. Teng, Gang Xu, Tao Xiang, Chao-yang Wang, Li Zeng, Yasuo Takeda, Tian-Le Xu, Yee-Kong Ng, Catherine Faivre-Sarrailh, Brian Popko, Eng-Ang Ling, Melitta Schachner, Kazutada Watanabe, Catherine J. Pallen, Bor Luen Tang, Zhi-Cheng Xiao

EMBO J. 2003 Nov 3; 22(21): 5666–5678. doi: 10.1093/emboj/cdg570

PMCID:: PMC275427

Abstract Article PDF–735K

Select item 41565439.

GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region

Don L. Armstrong, Raphael Zidovetzki, Marta E Alarcón-Riquelme, Betty P Tsao, Lindsey A Criswell, Robert P Kimberly, John B Harley, Kathy L Sivils, Timothy J Vyse, Patrick M. Gaffney, Carl D Langefeld, Chaim O. Jacob

Genes Immun. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Genes Immun. 2014 Sep; 15(6): 347–354. Published online 2014 May 29. doi: 10.1038/gene.2014.23

PMCID:: PMC4156543

Abstract Article PDF–1.5M

Select item 329186310.

A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants

Sha Tao, Zhong Wang, Junjie Feng, Fang-Chi Hsu, Guangfu Jin, Seong-Tae Kim, Zheng Zhang, Henrik Gronberg, Lilly S. Zheng, William B. Isaacs, Jianfeng Xu, Jielin Sun

Carcinogenesis. 2012 Mar; 33(3): 598–603. Published online 2012 Jan 4. doi: 10.1093/carcin/bgr316

PMCID:: PMC3291863

Abstract Article PDF–109K

Select item 284229811.

Genome-Wide Association of Lipid-Lowering Response to Statins in Combined Study Populations

Mathew J. Barber, Lara M. Mangravite, Craig L. Hyde, Daniel I. Chasman, Joshua D. Smith, Catherine A. McCarty, Xiaohui Li, Russell A. Wilke, Mark J. Rieder, Paul T. Williams, Paul M. Ridker, Aurobindo Chatterjee, Jerome I. Rotter, Deborah A. Nickerson, Matthew Stephens, Ronald M. Krauss

PLoS One. 2010; 5(3): e9763. Published online 2010 Mar 22. doi: 10.1371/journal.pone.0009763

PMCID:: PMC2842298

Abstract Article PDF–162K

Select item 385466912.

Genome Wide Association Study (GWAS) of Chagas Cardiomyopathy in Trypanosoma cruzi Seropositive Subjects

Xutao Deng, Ester C. Sabino, Edecio Cunha-Neto, Antonio L. Ribeiro, Barbara Ianni, Charles Mady, Michael P. Busch, Mark Seielstad, the REDSII Chagas study group from the NHLBI Retrovirus Epidemiology Donor Study-II (REDS-II), International Component

PLoS One. 2013; 8(11): e79629. Published online 2013 Nov 20. doi: 10.1371/journal.pone.0079629

PMCID:: PMC3854669

Abstract Article PDF–408K

Select item 334973413.

Genome-Wide Association for Abdominal Subcutaneous and Visceral Adipose Reveals a Novel Locus for Visceral Fat in Women

Caroline S. Fox, Yongmei Liu, Charles C. White, Mary Feitosa, Albert V. Smith, Nancy Heard-Costa, Kurt Lohman, GIANT Consortium, MAGIC Consortium, GLGC Consortium, Andrew D. Johnson, Meredith C. Foster, Danielle M. Greenawalt, Paula Griffin, Jinghong Ding, Anne B. Newman, Fran Tylavsky, Iva Miljkovic, Stephen B. Kritchevsky, Lenore Launer, Melissa Garcia, Gudny Eiriksdottir, J. Jeffrey Carr, Vilmunder Gudnason, Tamara B. Harris, L. Adrienne Cupples, Ingrid B. Borecki

PLoS Genet. 2012 May; 8(5): e1002695. Published online 2012 May 10. doi: 10.1371/journal.pgen.1002695

PMCID:: PMC3349734

Abstract Article PDF–377K

Select item 607772214.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115

PMCID:: PMC6077722

Abstract Article PDF–2.4M

Select item 289646415.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 135612916.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406