The in vivo mechanisms underlying dominant syndromes caused by mutations in SRY-Box
Transcription Factor 9 (SOX9) and SOX10 (SOXE) transcription factors, when they either are …

Studies by His from 1868 to 1904 delineated the critical role of the dorsal roof plate in the
development of the hindbrain choroid plexus, and of the rhombic lips in the development of …

The inner ear, projections, and brainstem nuclei are essential components of the auditory
and vestibular systems. It is believed that the evolution of complex systems depends on …

Age-related hearing impairment (ARHI), one of the most common medical conditions, is
strongly heritable, yet its genetic causes remain largely unknown. We conducted a meta …

In the mature cochlea, each inner hair cell (IHC) is innervated by multiple spiral ganglion
neurons of type I (SGNI). SGNIs are morphologically and electro-physiologically diverse …

Methods: Among 728 probands of which genomic DNA went through exome sequencing
regardless of any specific audiologic phenotypes, probands for which exome sequencing …

Sensorineural hearing loss is one of the most common inherited sensory disorders.
Functional classifications of deafness genes have shed light on genotype-and mechanism …

Abstract LMX1A, encoding the LIM homeobox transcription factor, is essential for inner ear
development. Despite previous reports of three human LMX1A variants with nonsyndromic …

Novel hearing loss (HL) genes are constantly being discovered, and evidence from
independent studies is essential to strengthen their position as causes of hereditary HL. To …

Non-syndromic sensorineural hearing loss (NSHL) is a group of genetically heterogeneous
conditions with broad phenotypic heterogeneity. There is, at present, no curative treatment …