PMC Articles for MedGen (Select 419358) - PMC

Samantha C. Lau, Mhamed Grati, Kevin Isgrig, Moaz Sinan, Kaitlyn R. Calabro, Jianliang Zhu, Yasuko Ishibashi, Zeynep Ozgur, Talah Wafa, Inna A. Belyantseva, Tracy Fitzgerald, Thomas B. Friedman, Sanford L. Boye, Shannon E. Boye, Wade W. Chien

Mol Ther Methods Clin Dev. 2023 Sep 14; 30: 534–545. Published online 2023 Aug 21. doi: 10.1016/j.omtm.2023.08.012

PMCID:: PMC10491803

Article PDF–3.2M

Select item 99963804.

Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B

Rita Ferla, Fabio Dell’Aquila, Monica Doria, Maria Ferraiuolo, Alessia Noto, Fabiana Grazioli, Virginia Ammendola, Francesco Testa, Paolo Melillo, Carolina Iodice, Giulia Risca, Novella Tedesco, Pierre Romain le Brun, Enrico Maria Surace, Francesca Simonelli, Stefania Galimberti, Maria Grazia Valsecchi, Jean-Brice Marteau, Philippe Veron, Stefano Colloca, Alberto Auricchio

Mol Ther Methods Clin Dev. 2023 Mar 9; 28: 396–411. Published online 2023 Feb 11. doi: 10.1016/j.omtm.2023.02.002

PMCID:: PMC9996380

Article PDF–3.6M

Select item 99043275.

Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report

Shannon E. Boye, Todd Durham, Amy Laster, Claire M. Gelfman, José-Alain Sahel

Transl Vis Sci Technol. 2023 Feb; 12(2): 2. Published online 2023 Feb 1. doi: 10.1167/tvst.12.2.2

PMCID:: PMC9904327

Article PDF–294K

Select item 97018746.

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

Article PDF–2.0M

Select item 96696397.

Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution

Yeh Chwan Leong, Valentina Di Foggia, Hema Pramod, Maria Bitner-Glindzicz, Aara Patel, Jane C. Sowden

Stem Cell Reports. 2022 Nov 8; 17(11): 2421–2437. Published online 2022 Oct 13. doi: 10.1016/j.stemcr.2022.09.006

PMCID:: PMC9669639

Article PDF–7.8M

Select item 93071488.

Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B

T Hashimoto, D Gibbs, C Lillo, SM Azarian, E Legacki, X-M Zhang, X-J Yang, DS Williams

Gene Ther. Author manuscript; available in PMC 2022 Jul 22.

Published in final edited form as: Gene Ther. 2007 Apr; 14(7): 584–594. Published online 2007 Feb 1. doi: 10.1038/sj.gt.3302897

PMCID:: PMC9307148

Article PDF–2.0M

Select item 92037439.

CRISPR/Cas9 editing of the MYO7A gene in rhesus macaque embryos to generate a primate model of Usher syndrome type 1B

Junghyun Ryu, John P. Statz, William Chan, Fernanda C. Burch, John V. Brigande, Beth Kempton, Edward V. Porsov, Lauren Renner, Trevor McGill, Benjamin J. Burwitz, Carol B. Hanna, Martha Neuringer, Jon D. Hennebold

Sci Rep. 2022; 12: 10036. Published online 2022 Jun 16. doi: 10.1038/s41598-022-13689-x

PMCID:: PMC9203743

Article PDF–3.1M

Select item 903500010.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Paulina Bahena, Narsis Daftarian, Reza Maroofian, Paola Linares, Daniel Villalobos, Mehraban Mirrahimi, Aboulfazl Rad, Julia Doll, Michaela A. H. Hofrichter, Asuman Koparir, Tabea Röder, Seungbin Han, Hamideh Sabbaghi, Hamid Ahmadieh, Hassan Behboudi, Cristina Villanueva-Mendoza, Vianney Cortés-Gonzalez, Rocio Zamora-Ortiz, Susanne Kohl, Laura Kuehlewein, Hossein Darvish, Elham Alehabib, Maria de la Luz Arenas-Sordo, Fatemeh Suri, Barbara Vona, Thomas Haaf

Hum Genet. 2022; 141(3-4): 785–803. Published online 2021 Jun 20. doi: 10.1007/s00439-021-02303-1

PMCID:: PMC9035000

Article PDF–1.9M

Select item 805962711.

Homology modeling and global computational mutagenesis of human myosin VIIa

Annapurna Kuppa, Yuri V Sergeev

J Anal Pharm Res. Author manuscript; available in PMC 2021 Apr 21.

Published in final edited form as: J Anal Pharm Res. 2021; 10(1): 41–48. Published online 2021 Mar 4. doi: 10.15406/japlr.2021.10.00364

PMCID:: PMC8059627

Article PDF–836K

Select item 791934312.

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

Article PDF–6.8M

Select item 688374813.

A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies

Kaitlyn R. Calabro, Sanford L. Boye, Shreyasi Choudhury, Diego Fajardo, James J. Peterson, Wei Li, Sean M. Crosson, Mi-Jung Kim, Dalian Ding, Richard Salvi, Shinichi Someya, Shannon E. Boye

Front Neurosci. 2019; 13: 1255. Published online 2019 Nov 22. doi: 10.3389/fnins.2019.01255

PMCID:: PMC6883748

Article PDF–5.4M

Select item 665924814.

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report

Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu, Jing Wang

BMC Med Genet. 2019; 20: 130. Published online 2019 Jul 25. doi: 10.1186/s12881-019-0850-7

PMCID:: PMC6659248

Article PDF–1.4M

Select item 601060315.

Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene

Ehab Abdelkader, Lama Enani, Patrik Schatz, Leen Safieh

Saudi J Ophthalmol. 2018 Apr-Jun; 32(2): 119–125. Published online 2017 Oct 26. doi: 10.1016/j.sjopt.2017.10.004

PMCID:: PMC6010603

Article PDF–1.8M

Select item 541748516.

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Amina Bakhchane, Majida Charif, Amale Bousfiha, Redouane Boulouiz, Halima Nahili, Hassan Rouba, Hicham Charoute, Guy Lenaers, Abdelhamid Barakat

PLoS One. 2017; 12(5): e0176516. Published online 2017 May 4. doi: 10.1371/journal.pone.0176516

PMCID:: PMC5417485

Article PDF–5.0M

Select item 497852417.

The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals

Tongchao Li, Nikolaos Giagtzoglou, Daniel F Eberl, Sonal Nagarkar Jaiswal, Tiantian Cai, Dorothea Godt, Andrew K Groves, Hugo J Bellen

eLife. 2016; 5: e15258. Published online 2016 Jun 22. doi: 10.7554/eLife.15258

PMCID:: PMC4978524

Article PDF–7.5M

Select item 449809218.

Structure and Regulation of the Movement of Human Myosin VIIA

Tsuyoshi Sakai, Hyun Suk Jung, Osamu Sato, Masafumi D. Yamada, Dong-Ju You, Reiko Ikebe, Mitsuo Ikebe

J Biol Chem. 2015 Jul 10; 290(28): 17587–17598. Published online 2015 May 22. doi: 10.1074/jbc.M114.599365

PMCID:: PMC4498092

Article PDF–2.9M

Select item 440876319.

Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light/dark changes-induced degeneration

Mei Tian, Weimin Wang, Duane Delimont, Linda Cheung, Marisa Zallocchi, Dominic Cosgrove, You-Wei Peng

Exp Eye Res. Author manuscript; available in PMC 2015 Apr 24.

Published in final edited form as: Exp Eye Res. 2014 Jan; 118: 145–153. Published online 2013 Nov 7. doi: 10.1016/j.exer.2013.10.021

PMCID:: PMC4408763

Article PDF–1.3M

Select item 403417720.

myosin 7aa^−/− mutant zebrafish show mild photoreceptor degeneration and reduced electroretinographic responses

Meagan M. Wasfy, Jonathan I. Matsui, Jessica Miller, John E. Dowling, Brian D. Perkins

Exp Eye Res. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Exp Eye Res. 2014 May; 122: 65–76. Published online 2014 Apr 1. doi: 10.1016/j.exer.2014.03.007

PMCID:: PMC4034177

Article PDF–1.3M

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