NOVEL TRENDS IN THE MOLECULAR GENETICS OF HEARING LOSS
Journal Title: Journal of Hearing Science - Year 2015, Vol 5, Issue 3
Abstract
Genetically determined hearing loss is a highly heterogeneous disorder, and to date the analysis of its causes has been conducted selectively, covering only individual genes. Breakthroughs associated with current technological advances have contributed to a rapid development in the molecular genetics of hearing loss. Here we review a number of novel and important achievements in the field: application of next-generation sequencing, novel genes, and trends in molecular therapies for hearing loss. Current achievements in the molecular genetics of hearing loss are discussed in the context of previously published results and data from our own studies.
Authors and Affiliations
Urszula Lechowicz, Agnieszka Pollak, Monika Oldak
NEONATAL HEARING SCREENING IN INTENSIVE CARE UNITS
Background: Diagnosis of neonatal hearing impairment depends on universal hearing screening programs (otoacoustic emissions, OAEs, and/or auditory brainstem responses, ABRs). The aim of this study is to determine the pre...
REVIEW OF MEASUREMENT IN MEDICINE: A PRACTICAL GUIDE. HENRICA C. W. DE VET, CAROLINE B. TERWEE, LIDWINE B. MOKKINK, DIRK L. KNOL. CAMBRIDGE UNIVERSITY PRESS, 2011.
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ANATOMICAL LOCUS OF THE ANGULAR GYRUS: PRELIMINARY FINDINGS
Background: The angular gyrus (AG) is an association area of the human cerebral cortex that plays a role in several processes, including auditory function. However, the precise anatomical location of the AG is not entire...
SURGICAL TREATMENT OF OTOSCLEROSIS: EXPANDING INDICATIONS AND NEW RECOMMENDATIONS
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POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO A VERY RARE COCH PATHOGENIC VARIANT
Background: The COCH gene encoding cochlin is highly expressed in the inner ear but the exact physiological function of the protein still remains unknown. Pathogenic variants located in COCH cause autosomal dominant hear...