M
Matthew R. Avenarius
Researcher at Ohio State University
Publications - 32
Citations - 1507
Matthew R. Avenarius is an academic researcher from Ohio State University. The author has contributed to research in topics: Hair cell & Stereocilia. The author has an hindex of 15, co-authored 27 publications receiving 1285 citations. Previous affiliations of Matthew R. Avenarius include University of Michigan & Nationwide Children's Hospital.
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Journal ArticleDOI
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
F J del Castillo,Montserrat Rodríguez-Ballesteros,Araceli Álvarez,Hutchin Tp,Emanuela Leonardi,C. A. M. de Oliveira,Hela Azaiez,Zippora Brownstein,Matthew R. Avenarius,Sandrine Marlin,Arti Pandya,Hashem Shahin,Kirby Siemering,Dominique Weil,Wim Wuyts,Luis A. Aguirre,Y. Martin,M A Moreno-Pelayo,Manuela Villamar,Karen B. Avraham,H.-H. M. Dahl,Moien Kanaan,Walter E. Nance,Christine Petit,Richard J.H. Smith,G. Van Camp,Edi Lúcia Sartorato,Alessandra Murgia,F Moreno,I del Castillo +29 more
TL;DR: The finding of a large number of affected subjects with only one GJB2 mutant allele complicates the molecular diagnosis of DFNB1 deafness, which has become the standard of care for the diagnosis of patients with non-syndromic hearing impairment of unknown cause.
Journal ArticleDOI
Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein
Matthew R. Avenarius,Michael S. Hildebrand,Yuzhou Zhang,Nicole C. Meyer,Luke L. H. Smith,Kimia Kahrizi,Hossein Najmabadi,Richard J.H. Smith +7 more
TL;DR: Routine semen analysis is used to identify two consanguineous Iranian families segregating autosomal-recessive male infertility and suggests that CATSPER1 is also essential for normal male fertility in humans.
Journal ArticleDOI
A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function
Martin Schwander,Anna Sczaniecka,Nicolas Grillet,Janice S. Bailey,Matthew R. Avenarius,Hossein Najmabadi,Brian M. Steffy,Glenn C. Federe,Erica A. Lagler,Raheleh Banan,Rudy Hice,Laura Grabowski-Boase,Elisabeth M. Keithley,Allen F. Ryan,Gary D. Housley,Tim Wiltshire,Richard J.H. Smith,Lisa M. Tarantino,Ulrich Müller +18 more
TL;DR: The findings demonstrate that recessive screens in mice are powerful tools for identifying genes that control the development and function of mechanosensory hair cells and cause deafness in humans, as well as generating animal models for disease.
Journal ArticleDOI
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
R Varga,Matthew R. Avenarius,P.M. Kelley,Bronya J.B. Keats,Charles I. Berlin,Linda J. Hood,Linda J. Hood,Thierry Morlet,Thierry Morlet,S M Brashears,S M Brashears,Arnold Starr,Edward S. Cohn,Richard J.H. Smith,William J. Kimberling +14 more
TL;DR: Mutations in OTOF cause both profound hearing loss and a type of hearing loss where otoacoustic emissions are spared called auditory neuropathy.
Journal ArticleDOI
Genetic male infertility and mutation of CATSPER ion channels
Michael S. Hildebrand,Matthew R. Avenarius,Marc Fellous,Yuzhou Zhang,Nicole C. Meyer,Jana Auer,Jana Auer,Catherine Serres,Catherine Serres,Kimia Kahrizi,Hossein Najmabadi,Jacques S. Beckmann,Richard J.H. Smith +12 more
TL;DR: The genetic and clinical data showing the role of CATSPER mutation in human forms of NSMI and SMI are summarized and how the CATSPEER channel could be used as a target for development of a male contraceptive is described.