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Items: 1 to 20 of 30

1.
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy
KJ Low, K Stals, R Caswell, M Wakeling, J Clayton-Smith, A Donaldson, N Foulds, A Norman, M Splitt, K Urankar, K Vijayakumar, A Majumdar, DDD Study, S Ellard, SF Smithson
Eur J Hum Genet. 2018 Jun; 26(6): 796–807. Published online 2018 Mar 6. doi: 10.1038/s41431-018-0110-x
PMCID:
PMC5974240
AbstractArticlePDF–2.2M
2.
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy
Shenela Lakhani, Ryan Doan, Mariam Almureikhi, Jennifer N. Partlow, Muna Al Saffar, Mahmoud F. Elsaid, Nada Alaaraj, A. James Barkovich, Christopher A. Walsh, Tawfeg Ben-Omran
Eur J Med Genet. Author manuscript; available in PMC 2018 May 1.
Published in final edited form as: Eur J Med Genet. 2017 May; 60(5): 245–249. Published online 2017 Feb 27. doi: 10.1016/j.ejmg.2017.02.006
PMCID:
PMC5569911
AbstractArticlePDF–443K
3.
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy
Mathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, Madeleine Joubert, Jean-Michel Liet, Laure Simon, Marie Vincent, Sébastien Küry, Pierre Boisseau, Sébastien Schmitt, Sandra Mercier, Claire Bénéteau, Catherine Larrose, Marianne Coste, Xénia Latypova, Yann Péréon, Jean-Marie Mussini, Stéphane Bézieau, Bertrand Isidor
Eur J Hum Genet. 2017 Jan; 25(1): 150–152. Published online 2016 Oct 26. doi: 10.1038/ejhg.2016.142
PMCID:
PMC5159775
AbstractArticlePDF–898K
4.
Mutations of CNTNAP1 led to defects in neuronal development
Wanxing Li, Lin Yang, Chuanqing Tang, Kaiyi Liu, Yulan Lu, Huijun Wang, Kai Yan, Zilong Qiu, Wenhao Zhou
JCI Insight. 2020 Nov 5; 5(21): e135697. Published online 2020 Nov 5. doi: 10.1172/jci.insight.135697
PMCID:
PMC7710280
AbstractArticlePDF–63M
5.
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region
Jean-Michel Vallat, Mathilde Nizon, Alex Magee, Bertrand Isidor, Laurent Magy, Yann Péréon, Laurence Richard, Robert Ouvrier, Benjamin Cogné, Jérôme Devaux, Stephan Zuchner, Stéphane Mathis
J Neuropathol Exp Neurol. 2016 Dec; 75(12): 1155–1159. Published online 2016 Nov 5. doi: 10.1093/jnen/nlw093
PMCID:
PMC6394372
AbstractArticlePDF–662K
6.
CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis
Holger Hengel, Alex Magee, Muhammad Mahanjah, Jean-Michel Vallat, Robert Ouvrier, Mohammad Abu-Rashid, Jamal Mahamid, Rebecca Schüle, Martin Schulze, Ingeborg Krägeloh-Mann, Peter Bauer, Stephan Züchner, Rajech Sharkia, Ludger Schöls
Neurol Genet. 2017 Apr; 3(2): e144. Published online 2017 Mar 22. doi: 10.1212/NXG.0000000000000144
PMCID:
PMC5363873
AbstractArticlePDF–856K
7.
Identification of Novel γ-Secretase-associated Proteins in Detergent-resistant Membranes from Brain
Ji-Yeun Hur, Yasuhiro Teranishi, Takahiro Kihara, Natsuko Goto Yamamoto, Mitsuhiro Inoue, Waltteri Hosia, Masakazu Hashimoto, Bengt Winblad, Susanne Frykman, Lars O. Tjernberg
J Biol Chem. 2012 Apr 6; 287(15): 11991–12005. Published online 2012 Feb 7. doi: 10.1074/jbc.M111.246074
PMCID:
PMC3320946
AbstractArticlePDF–1.6M
8.
Caspr1 is a host receptor for meningitis-causing Escherichia coli
Wei-Dong Zhao, Dong-Xin Liu, Jia-Yi Wei, Zi-Wei Miao, Ke Zhang, Zheng-Kang Su, Xue-Wei Zhang, Qiang Li, Wen-Gang Fang, Xiao-Xue Qin, De-Shu Shang, Bo Li, Qing-Chang Li, Liu Cao, Kwang Sik Kim, Yu-Hua Chen
Nat Commun. 2018; 9: 2296. Published online 2018 Jun 12. doi: 10.1038/s41467-018-04637-3
PMCID:
PMC5997682
AbstractArticlePDF–2.6M
9.
Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits
Cheng Chang, Lacey B. Sell, Qian Shi, Manzoor A. Bhat
Cell Rep. Author manuscript; available in PMC 2024 Feb 16.
Published in final edited form as: Cell Rep. 2023 Oct 31; 42(10): 113274. Published online 2023 Oct 19. doi: 10.1016/j.celrep.2023.113274
PMCID:
PMC10873044
AbstractArticlePDF–4.5M
10.
Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions.
E Peles, M Nativ, M Lustig, M Grumet, J Schilling, R Martinez, G D Plowman, J Schlessinger
EMBO J. 1997 Mar 3; 16(5): 978–988. doi: 10.1093/emboj/16.5.978
PMCID:
PMC1169698
SummaryPDF–608K
11.
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
AbstractArticlePDF–735K
12.
A CASPR1–ATP1B3 protein interaction modulates plasma membrane localization of Na+/K+-ATPase in brain microvascular endothelial cells
Shu-Hong Zhang, Dong-Xin Liu, Li Wang, Yu-Hua Li, Yan-Hua Wang, Hu Zhang, Zheng-Kang Su, Wen-Gang Fang, Xiao-Xue Qin, De-Shu Shang, Bo Li, Xiao-Ning Han, Wei-Dong Zhao, Yu-Hua Chen
J Biol Chem. 2019 Apr 19; 294(16): 6375–6386. Published online 2019 Feb 21. doi: 10.1074/jbc.RA118.006263
PMCID:
PMC6484117
AbstractArticlePDF–2.3M
13.
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women’s Health Initiative SHARe Study
Digna R. Velez Edwards, Adam C. Naj, Keri Monda, Kari E. North, Marian Neuhouser, Oyunbileg Magvanjav, Ibukun Kusimo, Mara Z. Vitolins, JoAnn E. Manson, Mary Jo O’Sullivan, Evadnie Rampersaud, Todd L. Edwards
Hum Genet. Author manuscript; available in PMC 2013 Jul 8.
Published in final edited form as: Hum Genet. 2013 Mar; 132(3): 323–336. Published online 2012 Nov 29. doi: 10.1007/s00439-012-1246-3
PMCID:
PMC3704217
AbstractArticlePDF–87K
14.
LRRC31 inhibits DNA repair and sensitizes breast cancer brain metastasis to radiation therapy
Yanke Chen, Ting Jiang, Hongyi Zhang, Xingchun Gou, Cong Han, Jianhui Wang, Ann T. Chen, Jun Ma, Jun Liu, Zeming Chen, Xintao Jing, Hong Lei, Zhenzhen Wang, Youmei Bao, Mehdi Baqri, Yong Zhu, Ranjit S. Bindra, James E. Hansen, Jun Dou, Chen Huang, Jiangbing Zhou
Nat Cell Biol. Author manuscript; available in PMC 2021 Apr 1.
Published in final edited form as: Nat Cell Biol. 2020 Oct; 22(10): 1276–1285. Published online 2020 Oct 1. doi: 10.1038/s41556-020-00586-6
PMCID:
PMC7962994
AbstractArticlePDF–5.5M
15.
Polymorphisms in innate immunity genes and risk of childhood leukemia
Sohee Han, Qing Lan, Ae Kyung Park, Kyoung-Mu Lee, Sue K. Park, Hyo Seop Ahn, Hee Young Shin, Hyoung Jin Kang, Hong Hoe Koo, Jong Jin Seo, Ji Eun Choi, Yoon-Ok Ahn, Stephen J. Chanock, Ho Kim, Nathaniel Rothman, Daehee Kang
Hum Immunol. Author manuscript; available in PMC 2010 Nov 2.
Published in final edited form as: Hum Immunol. 2010 Jul; 71(7): 727–730. Published online 2010 May 16. doi: 10.1016/j.humimm.2010.04.004
PMCID:
PMC2967770
AbstractArticlePDF–306K
16.
Risk of Meningioma and Common Variation in Genes related to Innate Immunity
Preetha Rajaraman, Alina V. Brenner, Gila Neta, Ruth Pfeiffer, Sophia S. Wang, Meredith Yeager, Gilles Thomas, Howard A. Fine, Martha S. Linet, Nathaniel Rothman, Stephen J. Chanock, Peter D. Inskip
Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2011 Sep 7.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2010 May; 19(5): 1356–1361. Published online 2010 Apr 20. doi: 10.1158/1055-9965.EPI-09-1151
PMCID:
PMC3169167
AbstractArticlePDF–61K
17.
Common Variation in Genes Related to Innate Immunity and Risk of Adult Glioma
Preetha Rajaraman, Alina V. Brenner, Mary Ann Butler, Sophia S. Wang, Ruth M. Pfeiffer, Avima M. Ruder, Martha S. Linet, Meredith Yeager, Zhaoming Wang, Nick Orr, Howard A. Fine, Deukwoo Kwon, Gilles Thomas, Nathaniel Rothman, Peter D. Inskip, Stephen J. Chanock
Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2010 May 1.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2009 May; 18(5): 1651–1658. doi: 10.1158/1055-9965.EPI-08-1041
PMCID:
PMC2771723
AbstractArticlePDF–392K
18.
Global landscape of HIV–human protein complexes
Stefanie Jäger, Peter Cimermancic, Natali Gulbahce, Jeffrey R. Johnson, Kathryn E. McGovern, Starlynn C. Clarke, Michael Shales, Gaelle Mercenne, Lars Pache, Kathy Li, Hilda Hernandez, Gwendolyn M. Jang, Shoshannah L. Roth, Eyal Akiva, John Marlett, Melanie Stephens, Ivan D’Orso, Jason Fernandes, Marie Fahey, Cathal Mahon, Anthony J. O’Donoghue, Aleksandar Todorovic, John H. Morris, David A. Maltby, Tom Alber, Gerard Cagney, Frederic D. Bushman, John A. Young, Sumit K. Chanda, Wesley I. Sundquist, Tanja Kortemme, Ryan D. Hernandez, Charles S. Craik, Alma Burlingame, Andrej Sali, Alan D. Frankel, Nevan J. Krogan
Nature. Author manuscript; available in PMC 2013 Jan 19.
Published in final edited form as: Nature. 2011 Dec 21; 481(7381): 365–370. Published online 2011 Dec 21. doi: 10.1038/nature10719
PMCID:
PMC3310911
AbstractArticlePDF–1.8M
19.
Interpreting cancer genomes using systematic host perturbations by tumour virus proteins
Orit Rozenblatt-Rosen, Rahul C. Deo, Megha Padi, Guillaume Adelmant, Michael A. Calderwood, Thomas Rolland, Miranda Grace, Amélie Dricot, Manor Askenazi, Maria Tavares, Sam Pevzner, Fieda Abderazzaq, Danielle Byrdsong, Anne-Ruxandra Carvunis, Alyce A. Chen, Jingwei Cheng, Mick Correll, Melissa Duarte, Changyu Fan, Mariet C. Feltkamp, Scott B. Ficarro, Rachel Franchi, Brijesh K. Garg, Natali Gulbahce, Tong Hao, Amy M. Holthaus, Robert James, Anna Korkhin, Larisa Litovchick, Jessica C. Mar, Theodore R. Pak, Sabrina Rabello, Renee Rubio, Yun Shen, Saurav Singh, Jennifer M. Spangle, Murat Tasan, Shelly Wanamaker, James T. Webber, Jennifer Roecklein-Canfield, Eric Johannsen, Albert-László Barabási, Rameen Beroukhim, Elliott Kieff, Michael E. Cusick, David E. Hill, Karl Münger, Jarrod A. Marto, John Quackenbush, Frederick P. Roth, James A. DeCaprio, Marc Vidal
Nature. Author manuscript; available in PMC 2013 Jan 26.
Published in final edited form as: Nature. 2012 Jul 26; 487(7408): 491–495. doi: 10.1038/nature11288
PMCID:
PMC3408847
AbstractArticlePDF–937K
20.
Systematic protein–protein interaction mapping for clinically relevant human GPCRs
Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar
Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430
PMCID:
PMC5371730
AbstractArticlePDF–4.1M

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