Literature DB >> 32451864

Myosins and Hearing.

Thomas B Friedman1, Inna A Belyantseva2, Gregory I Frolenkov3.   

Abstract

Hearing loss is both genetically and clinically heterogeneous, and pathogenic variants of over a hundred different genes are associated with this common neurosensory disorder. A relatively large number of these "deafness genes" encode myosin super family members. The evidence that pathogenic variants of human MYO3A, MYO6, MYO7A, MYO15A, MYH14 and MYH9 are associated with deafness ranges from moderate to definitive. Additional evidence for the involvement of these six myosins for normal hearing also comes from animal models, usually mouse or zebra fish, where mutations of these genes cause hearing loss and from biochemical, physiological and cell biological studies of their roles in the inner ear. This chapter focuses on these six genes for which evidence of a causative role in deafness is substantial.

Entities:  

Keywords:  Deafness; Hair cells; Harmonin; Hearing; Helio gene-gun; MYH14; MYH9; MYO15A; MYO3A; MYO6; MYO7A; Retinitis pigmentosa; Shaker 2 mouse; Stereocilia; Usher syndrome; Whirler mouse

Year:  2020        PMID: 32451864     DOI: 10.1007/978-3-030-38062-5_13

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  6 in total

1.  Intake of mother's milk by very-low-birth-weight infants and variation in DNA methylation of genes involved in neurodevelopment at 5.5 years of age.

Authors:  Jingxiong Xu; Jean Shin; Meghan McGee; Sharon Unger; Nicole Bando; Julie Sato; Marlee Vandewouw; Yash Patel; Helen M Branson; Tomas Paus; Zdenka Pausova; Deborah L O'Connor
Journal:  Am J Clin Nutr       Date:  2022-10-06       Impact factor: 8.472

2.  Deficiency of Klc2 Induces Low-Frequency Sensorineural Hearing Loss in C57BL/6 J Mice and Human.

Authors:  Xiaolong Fu; Yachun An; Hongyang Wang; Peipei Li; Jing Lin; Jia Yuan; Rongyu Yue; Yecheng Jin; Jiangang Gao; Renjie Chai
Journal:  Mol Neurobiol       Date:  2021-05-20       Impact factor: 5.590

3.  Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.

Authors:  Paola Tesolin; Sofia Fiorino; Stefania Lenarduzzi; Elisa Rubinato; Elisabetta Cattaruzzi; Lydie Ammar; Veronica Castro; Eva Orzan; Claudio Granata; Daniele Dell'Orco; Anna Morgan; Giorgia Girotto
Journal:  Genes (Basel)       Date:  2021-10-01       Impact factor: 4.096

4.  Cy3-ATP labeling of unfixed, permeabilized mouse hair cells.

Authors:  Itallia V Pacentine; Peter G Barr-Gillespie
Journal:  Sci Rep       Date:  2021-12-13       Impact factor: 4.379

5.  Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Authors:  Ambroise Wonkam; Samuel Mawuli Adadey; Isabelle Schrauwen; Elvis Twumasi Aboagye; Edmond Wonkam-Tingang; Kevin Esoh; Kalinka Popel; Noluthando Manyisa; Mario Jonas; Carmen deKock; Victoria Nembaware; Diana M Cornejo Sanchez; Thashi Bharadwaj; Abdul Nasir; Jenna L Everard; Magda K Kadlubowska; Liz M Nouel-Saied; Anushree Acharya; Osbourne Quaye; Geoffrey K Amedofu; Gordon A Awandare; Suzanne M Leal
Journal:  Commun Biol       Date:  2022-04-19

Review 6.  The Importance of Early Genetic Diagnostics of Hearing Loss in Children.

Authors:  Nina Božanić Urbančič; Saba Battelino; Tine Tesovnik; Katarina Trebušak Podkrajšek
Journal:  Medicina (Kaunas)       Date:  2020-09-14       Impact factor: 2.430

  6 in total

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