PMC Links for GEO Profiles (Select 1013582) - PMC

Links from GEO Profiles

Items: 1 to 20 of 37

<< First< Prev

Page of 2

Next >Last >>

Select item 108118071.

Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications

Yuqing Su, Juntao Zhang, Jiahui Gao, Guoqing Ding, Heng Jiang, Yang Liu, Yulei Li, Guohua Yang

BMC Med Genomics. 2024; 17: 36. Published online 2024 Jan 26. doi: 10.1186/s12920-024-01817-7

PMCID:: PMC10811807

Abstract Article PDF–3.7M

Select item 92517922.

Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus

Junwon Lee, Han Jeong, Dongju Won, Saeam Shin, Seung-Tae Lee, Jong Rak Choi, Suk Ho Byeon, Helen J. Kuht, Mervyn G. Thomas, Jinu Han

Transl Vis Sci Technol. 2022 Jun; 11(6): 25. Published online 2022 Jun 28. doi: 10.1167/tvst.11.6.25

PMCID:: PMC9251792

Abstract Article PDF–2.0M

Select item 92007813.

Correlations of FRMD7 gene mutations with ocular oscillations

Lijuan Huang, Yunyu Zhou, Wencong Chen, Ping Lin, Yan Xie, Kaiwen He, Shasha Zhang, Yuyu Wu, Ningdong Li

Sci Rep. 2022; 12: 9914. Published online 2022 Jun 15. doi: 10.1038/s41598-022-14144-7

PMCID:: PMC9200781

Abstract Article PDF–1.3M

Select item 74057824.

FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome

Lei Jiang, Yulei Li, Kangjuan Yang, Yuping Wang, Jiuxiang Wang, Xiaoniu Cui, Jinglin Mao, Yong Gao, Ping Yi, Lejin Wang, Jing Yu Liu

Invest Ophthalmol Vis Sci. 2020 May; 61(5): 41. Published online 2020 May 23. doi: 10.1167/iovs.61.5.41

PMCID:: PMC7405782

Abstract Article PDF–2.4M

Select item 71699835.

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

Select item 69771366.

Next‐generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus

Fengqi Wang, Hongzai Guan, Wenmiao Liu, Guiqiu Zhao, Shiguo Liu

J Clin Lab Anal. 2020 Jan; 34(1): e23012. Published online 2019 Sep 8. doi: 10.1002/jcla.23012

PMCID:: PMC6977136

Abstract Article PDF–724K

Select item 64238837.

X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review

Naihong Yan, Lirong Xiao, Chen Hou, Bo Guo, Wei Fan, Yingping Deng, Ke Ma

BMC Med Genet. 2019; 20: 41. Published online 2019 Mar 19. doi: 10.1186/s12881-019-0780-4

PMCID:: PMC6423883

Abstract Article PDF–1.1M

Select item 63865888.

The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2

Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari

Mol Cell. Author manuscript; available in PMC 2020 Feb 21.

Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001

PMCID:: PMC6386588

Abstract Article PDF–1.7M

Select item 63237109.

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

Junjue Chen, Yan Wei, Linlu Tian, Xiaoli Kang

BMC Med Genet. 2019; 20: 5. Published online 2019 Jan 7. doi: 10.1186/s12881-018-0720-8

PMCID:: PMC6323710

Abstract Article PDF–889K

Select item 610262910.

Identification of a novel idiopathic congenital nystagmus-causing missense mutation, p.G296C, in the FRMD7 gene

Yanghui Xiu, Yihua Yao, Tanchu Yang, Meihua Pan, Hui Yang, Weifang Fang, Feng Gu, Junzhao Zhao, Yihua Zhu

Mol Med Rep. 2018 Sep; 18(3): 2816–2822. Published online 2018 Jul 9. doi: 10.3892/mmr.2018.9260

PMCID:: PMC6102629

Abstract Article PDF–1.3M

Select item 556210011.

Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus

Xiuhua Jia, Xiang Zhu, Qigen Li, Xiaoyun Jia, Shiqiang Li, Xiangming Guo

Mol Med Rep. 2017 Aug; 16(2): 1753–1758. Published online 2017 Jun 20. doi: 10.3892/mmr.2017.6824

PMCID:: PMC5562100

Abstract Article PDF–1.0M

Select item 547737112.

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

Mervyn G Thomas, Gail DE Maconachie, Viral Sheth, Rebecca J McLean, Irene Gottlob

Eur J Hum Genet. 2017 Jun; 25(6): 725–734. Published online 2017 Apr 5. doi: 10.1038/ejhg.2017.44

PMCID:: PMC5477371

Abstract Article PDF–2.5M

Select item 482345013.

Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus

Hui Zhao, Xiu-Feng Huang, Zhi-Li Zheng, Wen-Li Deng, Xin-Lan Lei, Dong-Jun Xing, Liang Ye, Su-Zhong Xu, Jie Chen, Fang Zhang, Xin-Ping Yu, Zi-Bing Jin

BMJ Open. 2016; 6(4): e010649. Published online 2016 Apr 1. doi: 10.1136/bmjopen-2015-010649

PMCID:: PMC4823450

Abstract Article PDF–837K

Select item 453476114.

A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus

Jae-Hwan Choi, Jin-Hong Shin, Je Hyun Seo, Jae-Ho Jung, Kwang-Dong Choi

Sci Rep. 2015; 5: 13003. Published online 2015 Aug 13. doi: 10.1038/srep13003

PMCID:: PMC4534761

Abstract Article PDF–804K

Select item 412562015.

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

Mervyn G. Thomas, Moira Crosier, Susan Lindsay, Anil Kumar, Shery Thomas, Masasuke Araki, Chris J. Talbot, Rebecca J. McLean, Mylvaganam Surendran, Katie Taylor, Bart P. Leroy, Anthony T. Moore, David G. Hunter, Richard W. Hertle, Patrick Tarpey, Andrea Langmann, Susanne Lindner, Martina Brandner, Irene Gottlob

Brain. 2011 Mar; 134(3): 892–902. Published online 2011 Feb 8. doi: 10.1093/brain/awq373

PMCID:: PMC4125620

Abstract Article PDF–1.0M

Select item 408237016.

Abnormal retinal development associated with FRMD7 mutations

Mervyn G. Thomas, Moira Crosier, Susan Lindsay, Anil Kumar, Masasuke Araki, Bart P. Leroy, Rebecca J. McLean, Viral Sheth, Gail Maconachie, Shery Thomas, Anthony T. Moore, Irene Gottlob

Hum Mol Genet. 2014 Aug 1; 23(15): 4086–4093. Published online 2014 Mar 31. doi: 10.1093/hmg/ddu122