PMC Articles for MedGen (Select 375076) - PMC

Select item 55682261.

A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells

Yuta Seki, Yuki Miyasaka, Sari Suzuki, Kenta Wada, Shumpei P. Yasuda, Kunie Matsuoka, Yasuhiro Ohshiba, Kentaro Endo, Rie Ishii, Hiroshi Shitara, Shin-ichiro Kitajiri, Naomi Nakagata, Hirohide Takebayashi, Yoshiaki Kikkawa

PLoS One. 2017; 12(8): e0183477. Published online 2017 Aug 23. doi: 10.1371/journal.pone.0183477

PMCID:: PMC5568226

Abstract Article PDF–95M

Select item 50743682.

Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding

Susan D. Arden, David A. Tumbarello, Tariq Butt, John Kendrick-Jones, Folma Buss

Biochem J. 2016 Oct 1; 473(19): 3307–3319. Prepublished online 2016 Jul 29. Published online 2016 Sep 27. doi: 10.1042/BCJ20160571

PMCID:: PMC5074368

Abstract Article PDF–875K

Select item 11802853.

Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

Zubair M. Ahmed, Robert J. Morell, Saima Riazuddin, Andrea Gropman, Shahzad Shaukat, Mussaber M. Ahmad, Saidi A. Mohiddin, Lameh Fananapazir, Rafael C. Caruso, Tayyab Husnain, Shaheen N. Khan, Sheikh Riazuddin, Andrew J. Griffith, Thomas B. Friedman, Edward R. Wilcox

Am J Hum Genet. 2003 May; 72(5): 1315–1322. Published online 2003 Apr 8. doi: 10.1086/375122

PMCID:: PMC1180285

Abstract Article PDF–463K

Select item 109856614.

59例大前庭导水管综合征SLC26A4基因突变频率及新发突变位点分析

苏栋, 娄凡, 黄锐, 李霞, 林垦, 李果, 马静

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Nov 3; 37(11): 909–915. Chinese. doi: 10.13201/j.issn.2096-7993.2023.11.010

PMCID:: PMC10985661

Abstract Article PDF–4.7M

Select item 102202945.

Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient

Yao Qin, Yi’nan Ma, Zhen’gang Zeng, Zhen Zhong, Yu Qi, Yuhe Liu

J Clin Lab Anal. 2023 Apr; 37(7): e24886. Published online 2023 Apr 27. doi: 10.1002/jcla.24886

PMCID:: PMC10220294

Abstract Article PDF–837K

Select item 90070946.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159

PMCID:: PMC9007094

Abstract Article PDF–1.3M

Select item 71408437.

Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-onset Progressive Hearing Loss

Shin-ichiro Oka, Timothy F. Day, Shin-ya Nishio, Hideaki Moteki, Maiko Miyagawa, Shinya Morita, Shuji Izumi, Tetsuo Ikezono, Satoko Abe, Jun Nakayama, Misako Hyogo, Nobuhiko Okamoto, Natsumi Uehara, Chie Oshikawa, Shin-ichiro Kitajiri, Shin-ichi Usami

Genes (Basel) 2020 Mar; 11(3): 273. Published online 2020 Mar 4. doi: 10.3390/genes11030273

PMCID:: PMC7140843

Abstract Article PDF–1.8M

Select item 50215738.

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N. Khan, Ayesha Imtiaz, Zubair M. Ahmed, Saima Riazuddin, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Thomas B. Friedman

Hum Mutat. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Hum Mutat. 2016 Oct; 37(10): 991–1003. Published online 2016 Aug 21. doi: 10.1002/humu.23042

PMCID:: PMC5021573

Abstract Article PDF–1.7M

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