Mechanisms of otoconia and otolith development
YW Lundberg, Y Xu, KD Thiessen… - Developmental …, 2015 - Wiley Online Library
Background: Otoconia are bio‐crystals that couple mechanic forces to the sensory hair cells
in the utricle and saccule, a process essential for us to sense linear acceleration and gravity …
in the utricle and saccule, a process essential for us to sense linear acceleration and gravity …
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
K Honda, AJ Griffith - Human genetics, 2022 - Springer
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
Programmed cell senescence during mammalian embryonic development
D Muñoz-Espín, M Cañamero, A Maraver… - Cell, 2013 - cell.com
Cellular senescence disables proliferation in damaged cells, and it is relevant for cancer
and aging. Here, we show that senescence occurs during mammalian embryonic …
and aging. Here, we show that senescence occurs during mammalian embryonic …
[HTML][HTML] Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing
MA Kim, SH Kim, N Ryu, JH Ma, YR Kim, J Jung… - Theranostics, 2019 - ncbi.nlm.nih.gov
Abstract Rationale: Mutations of SLC26A4 that abrogate pendrin, expressed in
endolymphatic sac, cochlea and vestibule, are known to cause autosomal recessive …
endolymphatic sac, cochlea and vestibule, are known to cause autosomal recessive …
Genetic determinants of non-syndromic enlarged vestibular aqueduct: a review
Hearing loss is the most common sensorial deficit in humans and one of the most common
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition
Mutations in human SLC26A4 are a common cause of hearing loss associated with
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …
Advances and challenges in adeno-associated viral inner-ear gene therapy for sensorineural hearing loss
There is growing attention and effort focused on treating the root cause of sensorineural
hearing loss rather than managing associated secondary characteristic features. With recent …
hearing loss rather than managing associated secondary characteristic features. With recent …
Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models
AJ Griffith, P Wangemann - Hearing research, 2011 - Elsevier
Enlargement of the vestibular aqueduct (EVA) is one of the most common inner ear
malformations associated with sensorineural hearing loss in children. The delayed onset …
malformations associated with sensorineural hearing loss in children. The delayed onset …
A new look at electrolyte transport in the distal tubule
D Eladari, R Chambrey… - Annual review of …, 2012 - annualreviews.org
The distal nephron plays a critical role in the renal control of homeostasis. Until very recently
most studies focused on the control of Na+, K+, and water balance by principal cells of the …
most studies focused on the control of Na+, K+, and water balance by principal cells of the …
Adeno-associated virus gene replacement for recessive inner ear dysfunction: Progress and challenges
Approximately 3 in 1000 children in the US under 4 years of age are affected by hearing
loss. Currently, cochlear implants represent the only line of treatment for patients with severe …
loss. Currently, cochlear implants represent the only line of treatment for patients with severe …