Mitochondrial deafness
H Kokotas, MB Petersen, PJ Willems - Clinical genetics, 2007 - Wiley Online Library
Non‐syndromic deafness can be caused by mutations in both nuclear and mitochondrial
genes. More than 50 nuclear genes have been shown to be involved in non‐syndromic …
genes. More than 50 nuclear genes have been shown to be involved in non‐syndromic …
Connexins: key mediators of endocrine function
D Bosco, JA Haefliger, P Meda - Physiological reviews, 2011 - journals.physiology.org
The appearance of multicellular organisms imposed the development of several
mechanisms for cell-to-cell communication, whereby different types of cells coordinate their …
mechanisms for cell-to-cell communication, whereby different types of cells coordinate their …
[HTML][HTML] Rare variants create synthetic genome-wide associations
Genome-wide association studies (GWAS) have now identified at least 2,000 common
variants that appear associated with common diseases or related traits (http://www. genome …
variants that appear associated with common diseases or related traits (http://www. genome …
[HTML][HTML] Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy
Mice lacking the vesicular glutamate transporter-3 (VGLUT3) are congenitally deaf due to
loss of glutamate release at the inner hair cell afferent synapse. Cochlear delivery of …
loss of glutamate release at the inner hair cell afferent synapse. Cochlear delivery of …
[HTML][HTML] Hippo/YAP signaling pathway protects against neomycin-induced hair cell damage in the mouse cochlea
M Wang, Y Dong, S Gao, Z Zhong, C Cheng… - Cellular and Molecular …, 2022 - Springer
Abstract The Hippo/Yes-associated protein (YAP) signaling pathway has been shown to be
able to maintain organ size and homeostasis by regulating cell proliferation, differentiation …
able to maintain organ size and homeostasis by regulating cell proliferation, differentiation …
Connexin hemichannel‐mediated CO2‐dependent release of ATP in the medulla oblongata contributes to central respiratory chemosensitivity
RTR Huckstepp, R Id Bihi, R Eason… - The Journal of …, 2010 - Wiley Online Library
Arterial, a major determinant of breathing, is detected by chemosensors located in the
brainstem. These are important for maintaining physiological levels of in the blood and …
brainstem. These are important for maintaining physiological levels of in the blood and …
Connexins, pannexins, innexins: novel roles of “hemi-channels”
The advent of multicellular organisms, some 800 million years ago, necessitated the
development of mechanisms for cell-to-cell synchronization and for the spread of signals …
development of mechanisms for cell-to-cell synchronization and for the spread of signals …
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory …
M Rodríguez‐Ballesteros, R Reynoso… - Human …, 2008 - Wiley Online Library
Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous
condition, for which 53 genetic loci have been reported, and 29 genes have been identified …
condition, for which 53 genetic loci have been reported, and 29 genes have been identified …
Mutations in connexin genes and disease
A Pfenniger, A Wohlwend… - European journal of …, 2011 - Wiley Online Library
Eur J Clin Invest 2010; 41 (1): 103–116 Abstract Background Connexins are a family of
transmembrane proteins that are widely expressed in the human body. Connexins play an …
transmembrane proteins that are widely expressed in the human body. Connexins play an …
Connexin-26 mutations in deafness and skin disease
JR Lee, TW White - Expert reviews in molecular medicine, 2009 - cambridge.org
Gap junctions allow the exchange of ions and small molecules between adjacent cells
through intercellular channels formed by connexin proteins, which can also form functional …
through intercellular channels formed by connexin proteins, which can also form functional …