Results 101 to 110 of about 89,289 (243)

Mechanosensory hair cells express two molecularly distinct mechanotransduction channels

Nature Neuroscience, 2016
Auditory hair cells contain mechanotransduction channels that rapidly open in response to sound-induced vibrations. We report here that auditory hair cells contain two molecularly distinct mechanotransduction channels.
Zizhen Wu, N. Grillet, Bo Zhao, Christopher L Cunningham, Sarah R. Harkins-Perry, B. Coste, Sanjeev S. Ranade, Navid Zebarjadi, M. Beurg, R. Fettiplace, A. Patapoutian, U. Mueller   +11 more
semanticscholar   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Inner Hair Cell Loss Disrupts Hearing and Cochlear Function Leading to Sensory Deprivation and Enhanced Central Auditory Gain

Frontiers in Neuroscience, 2017
There are three times as many outer hair cells (OHC) as inner hair cells (IHC), yet IHC transmit virtually all acoustic information to the brain as they synapse with 90–95% of type I auditory nerve fibers.
R. Salvi, Wei Sun, D. Ding, Guang-di Chen, E. Lobarinas, Jian Wang, Kelly E. Radziwon, Benjamin D. Auerbach   +7 more
semanticscholar   +1 more source

Cutting‐Edge Advancements in Physical Stimulation for Spiral Ganglion Neuron Protection and Regeneration

Advanced NanoBiomed Research, EarlyView.
Physical stimulation strategies have emerged as a therapeutic avenue for the regeneration of spiral ganglion neurons. This review explores diverse physical stimulation modalities—including topographical modulation, electrical stimulation, and photostimulation—each operating through distinct mechanisms to regulate SGN biological behavior. By elucidating
Yuhan Bai, Bin Zhang, Hong Cheng, Yunzhu Huang, Xinyue Han, Yangnan Hu, Renjie Chai, Wei Cao   +7 more
wiley   +1 more source

Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt)

eLife, 2017
Transmembrane O-methyltransferase (TOMT/LRTOMT) is responsible for non-syndromic deafness DFNB63. However, the specific defects that lead to hearing loss have not been described. Using a zebrafish model of DFNB63, we show that the auditory and vestibular
T. Erickson, C. Morgan, J. Olt, K. Hardy, E. Busch-Nentwich, Reo Maeda, Rachel Clemens, Jocelyn F Krey, Alex V. Nechiporuk, Peter G. Barr-Gillespie, W. Marcotti, T. Nicolson   +11 more
semanticscholar   +1 more source

Early synapsids neurosensory diversity revealed by CT and synchrotron scanning

The Anatomical Record, EarlyView.
Abstract Non‐mammaliaform synapsids (NMS) represent the closest relatives of today's mammals among the early amniotes. Exploring their brain and nervous system is key to understanding how mammals evolved. Here, using CT and Synchrotron scanning, we document for the first time three extreme cases of neurosensory and behavioral adaptations that probe ...
J. Benoit, R. Araujo, E. S. Lund, A. Bolton, T. Lafferty, Z. Macungo, V. Fernandez   +6 more
wiley   +1 more source

Enlargement of Ribbons in Zebrafish Hair Cells Increases Calcium Currents But Disrupts Afferent Spontaneous Activity and Timing of Stimulus Onset

Journal of Neuroscience, 2017
In sensory hair cells of auditory and vestibular organs, the ribbon synapse is required for the precise encoding of a wide range of complex stimuli.
L. Sheets, X. He, J. Olt, M. Schreck, R. Petralia, Ya‐Xian Wang, Qiuxiang Zhang, Alisha Beirl, T. Nicolson, W. Marcotti, Josef G. Trapani, Katie S. Kindt   +11 more
semanticscholar   +1 more source

Intraspecific variation of cochlear morphology in bowhead and beluga whales

The Anatomical Record, EarlyView.
Abstract The bony labyrinth of the petrosal bone, a distinctive feature of mammal skulls, is often identified in micro‐computed tomography imaging to infer species' physiological and ecological traits. When done as part of a comparative study, one individual specimen is normally considered representative of a species, and intraspecific variation is ...
John Peacock, J. G. M. Thewissen
wiley   +1 more source