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Select item 97018741.

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 95405572.

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 79193433.

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 70423074.

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 54917795.

Human myosin VIIa is a very slow processive motor protein on various cellular actin structures

Osamu Sato, Satoshi Komatsu, Tsuyoshi Sakai, Yoshikazu Tsukasaki, Ryosuke Tanaka, Takeomi Mizutani, Tomonobu M. Watanabe, Reiko Ikebe, Mitsuo Ikebe

J Biol Chem. 2017 Jun 30; 292(26): 10950–10960. Published online 2017 May 15. doi: 10.1074/jbc.M116.765966

PMCID:: PMC5491779

Abstract Article PDF–2.2M

Select item 54174856.

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

Abstract Article PDF–5.0M

Select item 48352507.

Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells

Zi-Hua Tang, Jia-Rong Chen, Jing Zheng, Hao-Song Shi, Jie Ding, Xiao-Dan Qian, Cui Zhang, Jian-Ling Chen, Cui-Cui Wang, Liang Li, Jun-Zhen Chen, Shan-Kai Yin, Tao-Sheng Huang, Ping Chen, Min-Xin Guan, Jin-Fu Wang

Stem Cells Transl Med. 2016 May; 5(5): 561–571. Published online 2016 Mar 24. doi: 10.5966/sctm.2015-0252

PMCID:: PMC4835250

Abstract Article PDF–3.1M

Select item 44980928.

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

Abstract Article PDF–2.9M

Select item 41174909.

Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family

Xue Gao, Guo-Jian Wang, Yong-Yi Yuan, Feng Xin, Ming-Yu Han, Jing-Qiao Lu, Hui Zhao, Fei Yu, Jin-Cao Xu, Mei-Guang Zhang, Jiang Dong, Xi Lin, Pu Dai

PLoS One. 2014; 9(7): e103415. Published online 2014 Jul 31. doi: 10.1371/journal.pone.0103415

Correction in:: PLoS One. 2015; 10(10): e0137883.

PMCID:: PMC4117490

Abstract Article PDF–1.4M

Select item 402272710.

Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

Weining Rong, Xue Chen, Kanxing Zhao, Yani Liu, Xiaoxing Liu, Shaoping Ha, Wenzhou Liu, Xiaoli Kang, Xunlun Sheng, Chen Zhao

PLoS One. 2014; 9(5): e97808. Published online 2014 May 15. doi: 10.1371/journal.pone.0097808

PMCID:: PMC4022727

Abstract Article PDF–1.2M

Select item 364077211.

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus

Vanda S. Lopes, Shannon E. Boye, Carrie M. Louie, Sanford Boye, Frank Dyka, Vince Chiodo, Hugo Fofo, William W. Hauswirth, David S. Williams

Gene Ther. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Gene Ther. 2013 Aug; 20(8): 824–833. Published online 2013 Jan 24. doi: 10.1038/gt.2013.3

PMCID:: PMC3640772

Abstract Article PDF–1.8M

Select item 361193812.

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1

Fei Liu, Pengcheng Li, Ying Liu, Weirong Li, Fulton Wong, Rong Du, Lei Wang, Chang Li, Fagang Jiang, Zhaohui Tang, Mugen Liu

Mol Vis. 2013; 19: 695–701. Published online 2013 Mar 21.

PMCID:: PMC3611938

Abstract Article PDF–2.0M

Select item 355842113.

Identification and Functional Study of a New Missense Mutation in the Motor Head Domain of Myosin VIIA in a Family with Autosomal Dominant Hearing Impairment (DFNA11)

Qing Sang, Xukun Yan, Huan Wang, Ruizhi Feng, Xiang Fei, Duan Ma, Qinghe Xing, Qiaoli Li, Xinzhi Zhao, Li Jin, Lin He, Huawei Li, Lei Wang

PLoS One. 2013; 8(1): e55178. Published online 2013 Jan 29. doi: 10.1371/journal.pone.0055178

PMCID:: PMC3558421

Abstract Article PDF–496K

Select item 326377214.

Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations

Samuel G. Jacobson, Artur V. Cideciyan, Dan Gibbs, Alexander Sumaroka, Alejandro J. Roman, Tomas S. Aleman, Sharon B. Schwartz, Melani B. Olivares, Robert C. Russell, Janet D. Steinberg, Margaret A. Kenna, William J. Kimberling, Heidi L. Rehm, David S. Williams

Invest Ophthalmol Vis Sci. 2011 Oct; 52(11): 7924–7936. Published online 2011 Oct 7. doi: 10.1167/iovs.11-8313

PMCID:: PMC3263772

Abstract Article PDF–3.1M

Select item 308412915.

Cargo binding activates myosin VIIA motor function in cells

Tsuyoshi Sakai, Nobuhisa Umeki, Reiko Ikebe, Mitsuo Ikebe

Proc Natl Acad Sci U S A. 2011 Apr 26; 108(17): 7028–7033. Published online 2011 Apr 11. doi: 10.1073/pnas.1009188108

PMCID:: PMC3084129

Abstract Article PDF–1.3M

Select item 295670116.

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness

Imen Ben Rebeh, Madeleine Morinière, Leila Ayadi, Zeineb Benzina, Ilhem Charfedine, Jamel Feki, Hammadi Ayadi, Abdelmonem Ghorbel, Faouzi Baklouti, Saber Masmoudi

Mol Vis. 2010; 16: 1898–1906. Published online 2010 Sep 30.

PMCID:: PMC2956701

Abstract Article PDF–2.5M

Select item 289119117.

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

Michael S. Hildebrand, Natalie P. Thorne, Catherine J. Bromhead, Kimia Kahrizi, Jennifer A. Webster, Zohreh Fattahi, Mojgan Bataejad, William J. Kimberling, Dietrich Stephan, Hossein Najmabadi, Melanie Bahlo, Richard J.H. Smith

Clin Genet. Author manuscript; available in PMC 2011 Jun 1.

Published in final edited form as: Clin Genet. 2010 Jun; 77(6): 563–571. Published online 2010 Feb 4. doi: 10.1111/j.1399-0004.2009.01344.x