Pages that link to "Q30492341"

The following pages link to A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9 (Q30492341):

Displaying 30 items.

• Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair (Q27022787) (← links)
• Synaptic transmission between end bulbs of Held and bushy cells in the cochlear nucleus of mice with a mutation in Otoferlin. (Q30396025) (← links)
• Otoferlin deficiency in zebrafish results in defects in balance and hearing: rescue of the balance and hearing phenotype with full-length and truncated forms of mouse otoferlin (Q30403961) (← links)
• Relating structure and function of inner hair cell ribbon synapses (Q30407369) (← links)
• The precise temporal pattern of prehearing spontaneous activity is necessary for tonotopic map refinement (Q30411197) (← links)
• Identification of the hair cell soma-1 antigen, HCS-1, as otoferlin. (Q30434073) (← links)
• Otoferlin is critical for a highly sensitive and linear calcium-dependent exocytosis at vestibular hair cell ribbon synapses (Q30479008) (← links)
• Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy (Q30480555) (← links)
• Hair cell afferent synapses (Q30481808) (← links)
• Glutamate co-release at GABA/glycinergic synapses is crucial for the refinement of an inhibitory map. (Q30493499) (← links)
• Calcium regulates molecular interactions of otoferlin with soluble NSF attachment protein receptor (SNARE) proteins required for hair cell exocytosis (Q30575681) (← links)
• Human hereditary hearing impairment: mouse models can help to solve the puzzle (Q33346003) (← links)
• High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5. (Q33759166) (← links)
• Otoferlin is a calcium sensor that directly regulates SNARE-mediated membrane fusion (Q34191602) (← links)
• A new Otogelin ENU mouse model for autosomal-recessive nonsyndromic moderate hearing impairment (Q36319732) (← links)
• The molecular architecture of ribbon presynaptic terminals (Q37239696) (← links)
• Structure and development of cochlear afferent innervation in mammals (Q37900809) (← links)
• Multiple Ca2 sensors in secretion: teammates, competitors or autocrats? (Q37914985) (← links)
• The emerging framework of mammalian auditory hindbrain development (Q38337997) (← links)
• Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3. (Q42138536) (← links)
• Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell. (Q43779285) (← links)
• Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants (Q45161041) (← links)
• Cav1.3 calcium channels are required for normal development of the auditory brainstem (Q45832169) (← links)
• Repertoire of high voltage-activated Ca2 channels in the lateral superior olive: functional analysis in wild-type, Ca(v)1.3(-/-), and Ca(v)1.2DHP(-/-) mice (Q46241560) (← links)
• Emerging Functional Differences between the Synaptotagmin and Ferlin Calcium Sensor Families (Q47096382) (← links)
• Otoferlin acts as a Ca2 sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses (Q47373170) (← links)
• Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes (Q58765228) (← links)
• A dual‐AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock‐out mice (Q60238531) (← links)
• An Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder (Q64123157) (← links)
• Deciphering the Roles of C2-Domain-Containing Proteins (Synaptotagmins and Otoferlin) in the Inner Ear (Q83750661) (← links)