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Select item 109843461.

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

Abstract Article PDF–624K

Select item 106683742.

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

Abstract Article PDF–1.3M

Select item 99224683.

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

Abstract Article PDF–4.9M

Select item 97018744.

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

Abstract Article PDF–2.0M

Select item 95405575.

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

Abstract Article PDF–484K

Select item 92626146.

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

Abstract Article PDF–3.6M

Select item 90560267.

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

Abstract Article PDF–1.0M

Select item 88970228.

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

Abstract Article PDF–3.0M

Select item 87039899.

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

Abstract Article PDF–2.7M

Select item 836418110.

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

Abstract Article PDF–3.0M

Select item 816503011.

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

Abstract Article PDF–2.2M

Select item 808466412.

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

Abstract Article PDF–1.0M

Select item 791934313.

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

Abstract Article PDF–6.8M

Select item 704230714.

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

Abstract Article PDF–933K

Select item 676324215.

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

Abstract Article PDF–12M

Select item 660091516.

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

Abstract Article PDF–1.7M

Select item 646186417.

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

Abstract Article PDF–11M

Select item 568814918.

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

Abstract Article PDF–1.7M

Select item 554136819.

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

Abstract Article PDF–1.6M

Select item 553161120.

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

Abstract Article PDF–2.7M

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PMC Links for GEO Profiles (Select 9220447) (76)
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txid285562[Organism] (3069)
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PREDICTED: Mus musculus phosphatidylinositol glycan anchor biosynthesis, class K...
PREDICTED: Mus musculus phosphatidylinositol glycan anchor biosynthesis, class K (Pigk), transcript variant X16, mRNA
gi|1907151081|ref|XM_006501612.5|

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