M
Marci M. Lesperance
Researcher at University of Michigan
Publications - 69
Citations - 2403
Marci M. Lesperance is an academic researcher from University of Michigan. The author has contributed to research in topics: Hearing loss & Sensorineural hearing loss. The author has an hindex of 25, co-authored 69 publications receiving 2147 citations. Previous affiliations of Marci M. Lesperance include Kresge Hearing Research Institute & University of Iowa.
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Journal ArticleDOI
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
Jérôme Ruel,Jérôme Ruel,S. Emery,Régis Nouvian,Tiphaine Bersot,Tiphaine Bersot,Bénédicte Amilhon,Jana M. Van Rybroek,Guy Rebillard,Guy Rebillard,Marc Lenoir,Marc Lenoir,Michel Eybalin,Michel Eybalin,Benjamin Delprat,Benjamin Delprat,Theru A. Sivakumaran,Bruno Giros,Salah El Mestikawy,Tobias Moser,Richard J.H. Smith,Marci M. Lesperance,Jean-Luc Puel,Jean-Luc Puel +23 more
TL;DR: It is concluded that deafness in Slc17a8-deficient mice is due to a specific defect of vesicular glutamate uptake and release and that VGLUT3 is essential for auditory coding at the IHC synapse.
Journal ArticleDOI
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
Irina N. Bespalova,Irina N. Bespalova,Guy Van Camp,Steven J. H. Bom,David J. Brown,Kim Cryns,Andrew T. DeWan,Ayse E. Erson,Kris Flothmann,Henricus P. M. Kunst,Purnima Kurnool,Theru A. Sivakumaran,Cor W. R. J. Cremers,Suzanne M. Leal,Margit Burmeister,Marci M. Lesperance +15 more
TL;DR: Five different heterozygous missense mutations (T699M, A716T, V779M, L829P, G831D) in the WFS1 gene found in six LFSNHL families conclude that mutations in WFS 1 are a common cause of non-syndromic low frequency sensorineural hearing loss.
Journal ArticleDOI
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Kim Cryns,Theru A. Sivakumaran,Jody M.W. van den Ouweland,Ronald J.E. Pennings,Cor W. R. J. Cremers,Kris Flothmann,Terry-Lynn Young,Richard J.H. Smith,Marci M. Lesperance,Guy Van Camp +9 more
TL;DR: An overview of the currently known disease‐causing and benign allele variants of WFS1 are provided and a potential genotype–phenotype correlation for Wolfram syndrome and LFSNHI is proposed.
Journal ArticleDOI
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila
Cynthia J. Schoen,S. Emery,Marc C. Thorne,Hima R. Ammana,Elżbieta Śliwerska,Jameson Arnett,Michael Hortsch,Frances Hannan,Margit Burmeister,Marci M. Lesperance +9 more
TL;DR: A 2- to 3-fold overexpression of DIAPH3 mRNA in lymphoblastoid cell lines from affected individuals is demonstrated and the expression of a constitutively active form of diaphanous protein in the auditory organ of Drosophila melanogaster recapitulates the phenotype of impaired response to sound.
Journal ArticleDOI
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
David J. Brown,Theresa B. Kim,Elizabeth M. Petty,Catherine A. Downs,Donna M. Martin,Peter J. Strouse,Sayoko E. Moroi,Jeff M. Milunsky,Marci M. Lesperance +8 more
TL;DR: Clinical and molecular findings suggest that a broader range of conductive hearing-loss phenotypes are associated with NOG mutations than had previously been recognized, and patients with sporadic or familial nonsyndromic otosclerosis should be evaluated for mild features of this syndrome.