Clinical Heterogeneity Associated with <i>MYO7A</i> Variants Relies on Affected Domains by Sun Young Joo, Gina Na, Jung Ah Kim, Jee Eun Yoo, Da Hye Kim, Se Jin Kim, Seung Hyun Jang, Seyoung Yu, Hye-Youn Kim, Jae Young Choi, Heon Yung Gee, Jinsei Jung

Subjects: “…<i>MYO7A</i>…”
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Effective delivery of large genes to the retina by dual AAV vectors by Ivana Trapani, Pasqualina Colella, Andrea Sommella, Carolina Iodice, Giulia Cesi, Sonia de Simone, Elena Marrocco, Settimio Rossi, Massimo Giunti, Arpad Palfi, Gwyneth J Farrar, Roman Polishchuk, Alberto Auricchio

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The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B by Kizuki Watanabe, Shin-ya Nishio, Shin-ichi Usami, the Deafness Gene Study Consortium

“…However, the prevalence and detailed clinical features of MYO7A-associated hearing loss across a large population remain unclear. …”
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Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families by Xueshuang Mei, Yaqi Zhou, Muhammad Amjad, Weiqiang Yang, Rufei Zhu, Muhammad Asif, Hafiz Muhammad Jafar Hussain, Tao Yang, Furhan Iqbal, Hongyi Hu

“…Leu180Serfs∗20) in TECTA, c.3719 G>A (p. Arg1240Gln) in MYO7A, and c.482+1986_1988del in HGF were identified as the pathogenic causes of enrolled families. …”
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Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant by Elaine Y.M. Wong, Xin E. Khoh, Shang-Chih Chen, Joey Lye, Fiona K. Leith, Dan Zhang, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Marcus D. Atlas, Fred K. Chen, Samuel McLenachan

“…Here, we produced the LEIi020-A and LEIi020-B induced pluripotent stem cell (iPSC) lines from dermal fibroblasts derived from a patient with USH1B caused by inheritance of homozygous c.496del variants in MYO7A using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for TP53. …”
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EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat. by Marisa Zallocchi, Katie Binley, Yatish Lad, Scott Ellis, Peter Widdowson, Sharifah Iqball, Vicky Scripps, Michelle Kelleher, Julie Loader, James Miskin, You-Wei Peng, Wei-Min Wang, Linda Cheung, Duane Delimont, Kyriacos A Mitrophanous, Dominic Cosgrove

“…We evaluated the impact of subretinally delivered UshStat, a recombinant EIAV-based lentiviral vector expressing human MYO7A, on photoreceptor function in the shaker1 mouse model for Usher type 1B that lacks a functional Myo7A gene. …”
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Pathophysiology of human hearing loss associated with variants in myosins by Takushi Miyoshi, Takushi Miyoshi, Inna A. Belyantseva, Mrudhula Sajeevadathan, Thomas B. Friedman

“…Deleterious variants of more than one hundred genes are associated with hearing loss including MYO3A, MYO6, MYO7A and MYO15A and two conventional myosins MYH9 and MYH14. …”
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The differentiation of Lgr5+ progenitor cells on nanostructures of self-assembled silica beads. by Wenjun Cai, Zhichun Huang, Baobin Sun, Ling Lu, Xiaoqiong Ding, Feng Tao

“…Especially in the SB group, Lgr5+ progenitors generated significantly more Myo7a+ HCs outside of the colony than in the control group(**p < 0.01). …”
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Targeted next‐generation sequencing of deaf patients from Southwestern China by Yunlong Li, Jie Su, Jingman Zhang, Jiahong Pei, Dongmei Li, Yinhong Zhang, Jingyu Li, Menglang Chen, Baosheng Zhu

“…The most common causative genes were SLC26A4 (12.9%, 9/70), MT‐RNR1 (11.4%, 8/70), and MYO7A (2.9%, 2/70) in deaf patients. In “Unsolved” patients, possible pathogenic variants were most found in SLC26A4 (8.9%, 3/34), MYO7A (5.9%, 2/34), OTOF (5.9%, 2/34), and PDZD7 (5.9%, 2/34) genes. …”
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The study of interactome in Russian patients with Usher syndrome to select priority approaches in pathogenetically oriented treatment by M.E. Ivanova, D.S. Atarshchikov, A.M. Demchinsky, V.V. Strelnikov, D. Barh, G.V. Poryadin, L.M. Balashova, J.M. Salmasi

“…MYO7A: p.Q18* was the most common (27.27%) mutation associated with early and the most severe clinical manifestations. …”
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Identification of a novel compound heterozygous pathogenic variant in causing Usher syndrome type IB in a Chinese patient: a case report by Ya’nan Zhang, Xinyi Guo, Ling Hao, Meihui Tian, Yuan Ma, Yong Tang

“…The use of high-throughput sequencing technology to screen the patient’s family lineage for deafness-related genes revealed that the patient carried a compound heterozygous pathogenic variant of MYO7A : c.541C > T and c.6364delG. This pathogenic variant has not previously been reported. …”
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Grxcr1 regulates hair bundle morphogenesis and is required for normal mechanoelectrical transduction in mouse cochlear hair cells. by Beatriz Lorente-Cánovas, Stephanie Eckrich, Morag A Lewis, Stuart L Johnson, Walter Marcotti, Karen P Steel

“…The key stereociliary proteins ESPN, MYO7A, EPS8 and PTPRQ were distributed in hair bundles of homozygous tde mutants in a similar pattern compared with control mice. …”
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Identification of Binding Partners of Deafness-Related Protein PDZD7 by Haibo Du, Rui Ren, Panpan Chen, Zhigang Xu, Yanfei Wang

“…Several PDZD7-binding proteins have been identified, including usherin, ADGRV1, whirlin, harmonin, SANS, and MYO7A, all belonging to USH proteins. Here, we report the identification of novel PDZD7-binding partners through yeast two-hybrid screening using the first two PDZ domains of PDZD7 as bait. …”
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Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss by Songqun Hu, Feifei Sun, Jie Zhang, Yan Tang, Jinhong Qiu, Zhixia Wang, Luping Zhang

“…We identified novel pathogenic variants in six families including p.D1806E/p.R1588W, p.R964W/p.R1588W, and p.G17C/p.G1449D in CDH23; p.T584M/p.D1939N in LOXHD1; p.P1225L in MYO7A; and p.K612X in EYA4. Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family. …”
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Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies by Nam K. Lee, Kristin M. Uhler, Patricia J. Yoon, Regie Lyn P. Santos-Cortez

“…Novel pathogenic variants in the <i>MYO7A</i> and <i>TECTA</i> genes were also identified. …”
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An Update on the Genetics of Usher Syndrome by José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso

“…To date, five USH1 genes have been identified: MYO7A (USH1B), CDH23 (USH1D), PCDH15 (USH1F), USH1C(USH1C), and USH1G(USH1G). …”
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Senses lost : the impossible dilemma of Usher Syndrome, and its possible solutions by Telma, Kate

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Zebrafish myo7aa affects congenital hearing by regulating Rho-GTPase signaling by Binling Xie, Binling Xie, Binling Xie, Jiaxin Liang, Jiaxin Liang, Jiaxin Liang, Jifan Jiang, Jifan Jiang, Ting Zeng, Ting Zeng, Ling Liu, Ling Liu, Dinghua Xie, Ganghua Zhu, Lei Xiong, Lei Xiong, Lei Xiong, Kanjia Zhang, Dong Liu, Jie Gong, Xiangding Chen, Ruosha Lai, Huaping Xie

“…Introductionmyo7aa, the homolog of the human Usher 1B syndrome pathogenic gene, myo7A, plays an important role in stereociliary development and maintenance, therefore, is critical for hearing and balance. …”
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Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes by Micol Busi, Alessandro Castiglione

“…Among nine confirmed causative genes, <i>MYO7A</i> and <i>USH2A</i> are major players in US types 1 and 2, respectively, whereas <i>CRLN1</i> is the sole confirmed gene associated with type 3. …”
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Brainstem transcriptomic changes in male Wistar rats after acute stress, comparing the use of duplex specific nuclease (DSN) by Dmitriy A. Lanshakov, Ekaterina V. Sukhareva, Veta V. Bulygina, Anna A. Khozyainova, Tatiana S. Gerashchenko, Evgeny V. Denisov, Tatyana S. Kalinina

“…A strong increase in the expression of intermediate filaments Krt83/Krt86/Krt80/Krt84/Krt87/Krt4/Krt76 and motor proteins Myo7a, Klc3 was detected. Remarkably, in the absence of astrocyte activation, we also observed signs of microglial activation at this time point. …”
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