Journal ArticleDOI
The history of the genetics of hearing impairment.
Robert J. Ruben,Robert J. Ruben +1 more
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This article is published in Annals of the New York Academy of Sciences.The article was published on 1991-09-01. It has received 29 citations till now.read more
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Book ChapterDOI
Early Embryology of the Vertebrate Ear
TL;DR: Organogenesis of the vertebrates inner ear has been described as “one of the most remarkable displays of precision microengineering in the vertebrate body” and contributes to cranial nerve VIII and to the specialized sensory structures known as hair cells.
Journal ArticleDOI
Genetics, genomics and gene discovery in the auditory system
TL;DR: Investigations in the auditory system will provide important insight into how the nervous system decodes molecular information and will be critical to a full comprehension of genotype-phenotype relationships.
Journal ArticleDOI
Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss.
TL;DR: The ability to diagnose specific forms of recessive deafness by molecular testing even in simplex families with only one affected child is rapidly becoming the standard of care for the management of such cases, and the imminent availability of widespread testing in the deaf community has raised a number of ethical issues.
Journal ArticleDOI
A comparison of vestibular and auditory phenotypes in inbred mouse strains
Sherri M. Jones,Timothy A. Jones,Kenneth R. Johnson,Heping Yu,Lawrence C. Erway,Qing Yin Zheng +5 more
TL;DR: The results suggest that functional change in one sensory system does not obligate change in the other and that genes responsible for early onset hearing loss may affect otolithic function, yet the time course of functional change may vary.
Journal ArticleDOI
A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart
Kathleen S. Arnos,Katherine O. Welch,Mustafa Tekin,Virginia W. Norris,Susan H. Blanton,Arti Pandya,Walter E. Nance +6 more
TL;DR: Data from pedigree data on 311 contemporary marriages among deaf individuals are collected and show that the estimated proportion of noncomplementary matings that can produce only deaf children has increased by a factor of more than five in the past 100 years, consistent with the increase in the frequency of DFNB1 predicted by simulations.
References
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Journal ArticleDOI
Three sets of actin filaments in sensory cells of the inner ear. Identification and functional orientation determined by gel electrophoresis, immunofluorescence and electron microscopy.
TL;DR: The presence of actin in inner ear sensory organs and receptor cells was established by gel electrophoresis, by labelling with antibodies against actin, and by electron microscopy after decoration with subfragment-1 of Myosin to determine the functional orientation ofActin filaments found to be present in the mechanosensitive region of the receptor cells.
Journal ArticleDOI
Inherited diseases of the inner ear in man in the light of studies on the mouse.
Journal ArticleDOI
Hearing degeneration in shaker-1 mouse. correlation of physiological observations with behavioral responses and with cochlear anatomy.
D. Mikaelian,Robert J. Ruben +1 more
TL;DR: The anatomical and behavioral observations from this laboratory are in agreement with Deol's, and the changes found at different ages in the cochlear potentials and the eighth nerve activity are correlated with those found in the deaf mice.
Journal ArticleDOI
Shaker, a New Mutation of the House Mouse (Mus musculus)
TL;DR: A new behavioristic mutation, shaker, of the house mouse is described, which expresses itself in the form of nervous head movements, circling and deafness, and which behaves in inheritance as a single gene character, recessive to the normal and not sex linked.
Journal ArticleDOI
Influence of the neural tube on the differentiation of the inner ear in the mammalian embryo.
TL;DR: An attempt is made to extend findings from transplantation experiments in amphibians and birds to mammals by examining the inner ear in mutants where nothing is known about this organ but where the neural tube is known to be abnormal.