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Items: 1 to 20 of 76

1.
Expression of two major isoforms of MYO7A in the retina: considerations for gene therapy of Usher syndrome type 1B
W. Blake Gilmore, Nan W. Hultgren, Abhishek Chadha, Sonia B. Barocio, Joyce Zhang, Oksana Kutsyr, Miguel Flores-Bellver, M. Valeria Canto-Soler, David S. Williams
Vision Res. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Vision Res. 2023 Nov; 212: 108311. Published online 2023 Aug 15. doi: 10.1016/j.visres.2023.108311
PMCID:
PMC10984346
AbstractArticlePDF–624K
2.
Dispersed DNA variants underlie hearing loss in South Florida’s minority population
LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A. Eshraghi, Michael E. Hoffer, Simon I. Angeli, Guney Bademci, Susan Blanton, Carson Smith, Fred F. Telischi, Mustafa Tekin
Hum Genomics. 2023; 17: 103. Published online 2023 Nov 24. doi: 10.1186/s40246-023-00556-7
PMCID:
PMC10668374
AbstractArticlePDF–1.3M
3.
FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia
Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen
J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0
PMCID:
PMC9922468
AbstractArticlePDF–4.9M
4.
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss
Yanbao Xiang, Chenyang Xu, Yunzhi Xu, Lili Zhou, Shaohua Tang, Xueqin Xu
J Clin Lab Anal. 2022 Nov; 36(11): e24708. Published online 2022 Sep 26. doi: 10.1002/jcla.24708
PMCID:
PMC9701874
AbstractArticlePDF–2.0M
5.
Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials
Lilián Galbis‐Martínez, Fiona Blanco‐Kelly, Gema García‐García, Almudena Ávila‐Fernández, Teresa Jaijo, Carla Fuster‐García, Irene Perea‐Romero, Olga Zurita‐Muñoz, Belén Jimenez‐Rolando, Ester Carreño, Blanca García‐Sandoval, José M. Millán, Carmen Ayuso
Acta Ophthalmol. 2021 Dec; 99(8): 922–930. Published online 2021 Feb 11. doi: 10.1111/aos.14795
PMCID:
PMC9540557
AbstractArticlePDF–484K
6.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
7.
Two-Dimensional Fractionation Method for Proteome-Wide Cross-Linking Mass Spectrometry Analysis
Fenglong Jiao, Clinton Yu, Andrew Wheat, Xiaorong Wang, Scott D. Rychnovsky, Lan Huang
Anal Chem. Author manuscript; available in PMC 2022 Apr 30.
Published in final edited form as: Anal Chem. 2022 Mar 15; 94(10): 4236–4242. Published online 2022 Mar 2. doi: 10.1021/acs.analchem.1c04485
PMCID:
PMC9056026
AbstractArticlePDF–1.0M
8.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
9.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Int J Mol Sci. 2021 Dec; 22(24): 13294. Published online 2021 Dec 10. doi: 10.3390/ijms222413294
PMCID:
PMC8703989
AbstractArticlePDF–2.7M
10.
Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry
Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang
Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118
PMCID:
PMC8364181
AbstractArticlePDF–3.0M
11.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
12.
Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families
Xueshuang Mei, Yaqi Zhou, Muhammad Amjad, Weiqiang Yang, Rufei Zhu, Muhammad Asif, Hafiz Muhammad Jafar Hussain, Tao Yang, Furhan Iqbal, Hongyi Hu
Neural Plast. 2021; 2021: 5528434. Published online 2021 Apr 22. doi: 10.1155/2021/5528434
PMCID:
PMC8084664
AbstractArticlePDF–1.0M
13.
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations
Rosemary Ida Kabahuma, Wolf-Dieter Schubert, Christiaan Labuschagne, Denise Yan, Susan Halloran Blanton, Michael Sean Pepper, Xue Zhong Liu
Genes (Basel) 2021 Feb; 12(2): 274. Published online 2021 Feb 15. doi: 10.3390/genes12020274
PMCID:
PMC7919343
AbstractArticlePDF–6.8M
14.
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene
Olaia Subirà, Jaume Català-Mora, Jesús Díaz-Cascajosa, Noel Padrón-Pérez, M. A. Claveria, Natalia Coll-Alsina, Crystel Bonnet, Christine Petit, J. M. Caminal, Joan Prat
Eye (Lond) 2020 Mar; 34(3): 499–506. Published online 2019 Jul 18. doi: 10.1038/s41433-019-0536-6
PMCID:
PMC7042307
AbstractArticlePDF–933K
15.
Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development
Pu Wang, Feng Yan, Zhijun Li, Yanbao Yu, Scott E. Parnell, Yue Xiong
J Clin Invest. 2019 Oct 1; 129(10): 4393–4407. Published online 2019 Sep 9. doi: 10.1172/JCI129107
PMCID:
PMC6763242
AbstractArticlePDF–12M
16.
TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile
Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert
Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116
Correction in:
Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.
PMCID:
PMC6600915
AbstractArticlePDF–1.7M
17.
LncRNAs-directed PTEN enzymatic switch governs epithelial–mesenchymal transition
Qingsong Hu, Chunlai Li, Shouyu Wang, Yajuan Li, Bo Wen, Yanyan Zhang, Ke Liang, Jun Yao, Youqiong Ye, Heidi Hsiao, Tina K. Nguyen, Peter K. Park, Sergey D. Egranov, David H. Hawke, Jeffrey R. Marks, Leng Han, Mien-Chie Hung, Bing Zhang, Chunru Lin, Liuqing Yang
Cell Res. 2019 Apr; 29(4): 286–304. Published online 2019 Jan 10. doi: 10.1038/s41422-018-0134-3
PMCID:
PMC6461864
AbstractArticlePDF–11M
18.
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations
Chiara M. Eandi, Laura Dallorto, Roberta Spinetta, Maria Pia Micieli, Mario Vanzetti, Alessandro Mariottini, Ilaria Passerini, Francesca Torricelli, Camilla Alovisi, Cristiana Marchese
Sci Rep. 2017; 7: 15681. Published online 2017 Nov 15. doi: 10.1038/s41598-017-16014-z
PMCID:
PMC5688149
AbstractArticlePDF–1.7M
19.
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review
Maryam Beheshtian, Mojgan Babanejad, Hela Azaiez, Niloofar Bazazzadegan, Diana Kolbe, Christina Sloan-Heggen, Sanaz Arzhangi, Kevin Booth, Marzieh Mohseni, Kathy Frees, Mohammad Hossein Azizi, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard JH Smith, Hossein Najmabadi
Arch Iran Med. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: Arch Iran Med. 2016 Oct 1; 19(10): 720–728.
PMCID:
PMC5541368
AbstractArticlePDF–1.6M
20.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M

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