Communication Sciences and Disorders Commons^™

Advanced Phenotyping Of Otosclerosis In An Ontario Population And Two Large Newfoundland Families, Matthew B. Lucas

Electronic Thesis and Dissertation Repository

Otosclerosis is a relatively common hearing loss disorder characterized by abnormal bone growth in the otic capsule leading to stapes fixation. In approximately half of cases, otosclerosis is inherited as an autosomal dominant trait. Typically, gene discovery efforts rely on surgical confirmation, audiometry and occasionally acoustic reflexes to identify affected cases of otosclerosis within families, requiring that the otosclerosis was at an advanced stage to be detected. This makes it difficult to identify individuals with early otosclerosis. The use of advanced phenotyping to identify cases of otosclerosis was tested in an Ontario otosclerotic population as well as in two large …

Cochlear Development And Auditory Function In The Absence Of Thyroid Hormone Transporters Mct8 And Oatp1c1, Richard Sinn

All Graduate Theses, Dissertations, and Other Capstone Projects

Thyroid hormone (TH) is essential for the development and maturation of the nervous system. The thyroid gland secretes an active form of TH, triiodothyronine, and a prohormone, thyroxine, into the blood. TH is charged, which prevents it from passively diffusing across cell membranes and thus requires cell membrane transporters to facilitate its movement into and out of cells. However, whether TH transporters are required for TH-mediated developmental events, including the auditory system, is largely unknown.

The purpose of the present study was to investigate two specific TH transporters, monocarboxylate transporter 8 (Mct8) and organic anion transporting polypeptide 1c1 (Oatp1c1), and …