Diversity matters—extending sound intensity coding by inner hair cells via heterogeneous synapses
Our sense of hearing enables the processing of stimuli that differ in sound pressure by more
than six orders of magnitude. How to process a wide range of stimulus intensities with …
than six orders of magnitude. How to process a wide range of stimulus intensities with …
Voltage-gated calcium channels: key players in sensory coding in the retina and the inner ear
T Pangrsic, JH Singer, A Koschak - Physiological reviews, 2018 - journals.physiology.org
Calcium influx through voltage-gated Ca (CaV) channels is the first step in synaptic
transmission. This review concerns CaV channels at ribbon synapses in primary sense …
transmission. This review concerns CaV channels at ribbon synapses in primary sense …
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive
condition characterized by sensorineural hearing loss and ovarian failure. By a combination …
condition characterized by sensorineural hearing loss and ovarian failure. By a combination …
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
Hearing loss is the most common sensory deficit in humans with causative variants in over
140 genes. With few exceptions, however, the population-specific distribution for many of the …
140 genes. With few exceptions, however, the population-specific distribution for many of the …
Hair cells use active zones with different voltage dependence of Ca2+ influx to decompose sounds into complementary neural codes
TL Ohn, MA Rutherford, Z Jing, S Jung… - Proceedings of the …, 2016 - National Acad Sciences
For sounds of a given frequency, spiral ganglion neurons (SGNs) with different thresholds
and dynamic ranges collectively encode the wide range of audible sound pressures …
and dynamic ranges collectively encode the wide range of audible sound pressures …
[HTML][HTML] Autosomal recessive nonsyndromic deafness genes: a review
More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …
Review of hair cell synapse defects in sensorineural hearing impairment
Review of Hair Cell Synapse Defects in Sensorineural Hearing... : Otology & Neurotology
Review of Hair Cell Synapse Defects in Sensorineural Hearing Impairment : Otology & …
Review of Hair Cell Synapse Defects in Sensorineural Hearing Impairment : Otology & …
[HTML][HTML] Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
B Vona, I Nanda, MAH Hofrichter… - Molecular and cellular …, 2015 - Elsevier
From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …
present day, the field of human genetics has witnessed an unparalleled revolution that …
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
G Serra, S Felice, V Antona, MR Di Pace… - Italian Journal of …, 2022 - Springer
Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of
conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen …
conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen …
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to
the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive …
the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive …