PMC Links for Gene (Select 100996717) - PMC

Select item 112359381.

GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration

Qiong Liu, Juan Chen, Jin Xue, Xun Zhou, Yun Tian, Qiao Xiao, Wen Huang, Yongcheng Pan, Xiaoxia Zhou, Jian Li, Yuwen Zhao, Hongxu Pan, Yige Wang, Runcheng He, Yaqin Xiang, Tian Tu, Qian Xu, Qiying Sun, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Jifeng Guo, Lu Shen, Ranhui Duan, Beisha Tang, Zhenhua Liu

Eur J Neurol. 2024 Feb; 31(2): e16145. Published online 2023 Nov 17. doi: 10.1111/ene.16145

PMCID:: PMC11235938

Abstract Article PDF–14M

Select item 85907772.

Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing

Hiromi Fukuda, Daisuke Yamaguchi, Kristofor Nyquist, Yasushi Yabuki, Satoko Miyatake, Yuri Uchiyama, Kohei Hamanaka, Ken Saida, Eriko Koshimizu, Naomi Tsuchida, Atsushi Fujita, Satomi Mitsuhashi, Kazuyuki Ohbo, Yuki Satake, Jun Sone, Hiroshi Doi, Keisuke Morihara, Tomoko Okamoto, Yuji Takahashi, Aaron M. Wenger, Norifumi Shioda, Fumiaki Tanaka, Naomichi Matsumoto, Takeshi Mizuguchi

Clin Epigenetics. 2021; 13: 204. Published online 2021 Nov 13. doi: 10.1186/s13148-021-01192-5

PMCID:: PMC8590777

Abstract Article PDF–2.3M

Select item 83202663.

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

Jiaxi Yu, Jianwen Deng, Xueyu Guo, Jingli Shan, Xinghua Luan, Li Cao, Juan Zhao, Meng Yu, Wei Zhang, He Lv, Zhiying Xie, LingChao Meng, Yiming Zheng, Yawen Zhao, Qiang Gang, Qingqing Wang, Jing Liu, Min Zhu, Binbin Zhou, Pidong Li, Yinzhe Liu, Yang Wang, Chuanzhu Yan, Daojun Hong, Yun Yuan, Zhaoxia Wang

Brain. 2021 Jun; 144(6): 1819–1832. Published online 2021 Mar 9. doi: 10.1093/brain/awab077

Correction in:: Brain. 2021 Sep; 144(9): e81.

PMCID:: PMC8320266

Abstract Article PDF–966K

Select item 76901904.

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

Masashi Ogasawara, Aritoshi Iida, Theerawat Kumutpongpanich, Ayami Ozaki, Yasushi Oya, Hirofumi Konishi, Akinori Nakamura, Ryuta Abe, Hiroshi Takai, Ritsuko Hanajima, Hiroshi Doi, Fumiaki Tanaka, Hisayoshi Nakamura, Ikuya Nonaka, Zhaoxia Wang, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino

Acta Neuropathol Commun. 2020; 8: 204. Published online 2020 Nov 25. doi: 10.1186/s40478-020-01084-4

PMCID:: PMC7690190

Abstract Article PDF–8.8M

Select item 71877085.

Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy

Pu Fang, Yanyan Yu, Sheng Yao, Shuyun Chen, Min Zhu, Yunqing Chen, Keji Zou, Lulu Wang, Huan Wang, Ling Xin, Tao Hong, Daojun Hong

Ann Clin Transl Neurol. 2020 Apr; 7(4): 517–526. Published online 2020 Apr 6. doi: 10.1002/acn3.51021

PMCID:: PMC7187708

Abstract Article PDF–3.0M

Select item 66125306.

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

Yun Tian, Jun-Ling Wang, Wen Huang, Sheng Zeng, Bin Jiao, Zhen Liu, Zhao Chen, Yujing Li, Ying Wang, Hao-Xuan Min, Xue-Jing Wang, Yong You, Ru-Xu Zhang, Xiao-Yu Chen, Fang Yi, Ya-Fang Zhou, Hong-Yu Long, Chao-Jun Zhou, Xuan Hou, Jun-Pu Wang, Bin Xie, Fan Liang, Zhuan-Yi Yang, Qi-Ying Sun, Emily G. Allen, Andrew Mark Shafik, Ha Eun Kong, Ji-Feng Guo, Xin-Xiang Yan, Zheng-Mao Hu, Kun Xia, Hong Jiang, Hong-Wei Xu, Ran-Hui Duan, Peng Jin, Bei-Sha Tang, Lu Shen

Am J Hum Genet. 2019 Jul 3; 105(1): 166–176. Published online 2019 Jun 6. doi: 10.1016/j.ajhg.2019.05.013

PMCID:: PMC6612530

Abstract Article PDF–1.2M

Select item 103516607.

Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort

Minglei Liu, Yangyang Wang, Changhe Shi, Yanpeng Yuan, Lanjun Li, Xiaoyun Zhang, Yuming Xu, Jing Yang

Ann Clin Transl Neurol. 2023 Jul; 10(7): 1119–1135. Published online 2023 May 26. doi: 10.1002/acn3.51794

PMCID:: PMC10351660

Abstract Article PDF–5.3M

Select item 110494338.

Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy

Paola Ruffo, Francesca De Amicis, Vincenzo La Bella, Francesca Luisa Conforti

Cells. 2024 Apr; 13(8): 677. Published online 2024 Apr 14. doi: 10.3390/cells13080677

PMCID:: PMC11049433

Abstract Article PDF–1.6M

Select item 74750429.

Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels

Gerrald A Lodewijk, Diana P Fernandes, Iraklis Vretzakis, Jeanne E Savage, Frank M J Jacobs

Mol Biol Evol. 2020 Sep; 37(9): 2531–2548. Published online 2020 Apr 24. doi: 10.1093/molbev/msaa104

PMCID:: PMC7475042

Abstract Article PDF–1.4M

Select item 589891410.

Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex

Marta Florio, Michael Heide, Anneline Pinson, Holger Brandl, Mareike Albert, Sylke Winkler, Pauline Wimberger, Wieland B Huttner, Michael Hiller

eLife. 2018; 7: e32332. Published online 2018 Mar 21. doi: 10.7554/eLife.32332

PMCID:: PMC5898914

Abstract Article PDF–12M

Select item 609241911.

Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation

Ikuo K. Suzuki, David Gacquer, Roxane Van Heurck, Devesh Kumar, Marta Wojno, Angéline Bilheu, Adèle Herpoel, Nelle Lambert, Julian Cheron, Franck Polleux, Vincent Detours, Pierre Vanderhaeghen

Cell. 2018 May 31; 173(6): 1370–1384.e16. doi: 10.1016/j.cell.2018.03.067

PMCID:: PMC6092419

Abstract Article

Select item 598610412.

Human-specific NOTCH2NL genes affect Notch signaling and cortical neurogenesis

Ian T. Fiddes, Gerrald A. Lodewijk, Meghan Mooring, Colleen M. Bosworth, Adam D. Ewing, Gary L. Mantalas, Adam M. Novak, Anouk van den Bout, Alex Bishara, Jimi L. Rosenkrantz, Ryan Lorig-Roach, Andrew R. Field, Maximilian Haeussler, Lotte Russo, Aparna Bhaduri, Tomasz J. Nowakowski, Alex A. Pollen, Max L. Dougherty, Xander Nuttle, Marie-Claude Addor, Simon Zwolinski, Sol Katzman, Arnold Kriegstein, Evan E. Eichler, Sofie R. Salama, Frank M.J. Jacobs, David Haussler

Cell. Author manuscript; available in PMC 2019 May 31.

Published in final edited form as: Cell. 2018 May 31; 173(6): 1356–1369.e22. Published online 2018 May 31. doi: 10.1016/j.cell.2018.03.051

PMCID:: PMC5986104

Abstract Article PDF–2.3M

Select item 616989313.

Transcriptional fates of human-specific segmental duplications in brain

Max L. Dougherty, Jason G. Underwood, Bradley J. Nelson, Elizabeth Tseng, Katherine M. Munson, Osnat Penn, Tomasz J. Nowakowski, Alex A. Pollen, Evan E. Eichler

Genome Res. 2018 Oct; 28(10): 1566–1576. doi: 10.1101/gr.237610.118

PMCID:: PMC6169893

Abstract Article PDF–2.3M

Select item 716998314.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

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