[HTML][HTML] SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation
T Takeichi, T Hirabayashi, Y Miyasaka… - The Journal of …, 2020 - Am Soc Clin Investig
The corneocyte lipid envelope, composed of covalently bound ceramides and fatty acids, is
important to the integrity of the permeability barrier in the stratum corneum, and its absence …
important to the integrity of the permeability barrier in the stratum corneum, and its absence …
[HTML][HTML] Autoinflammatory keratinization disease with hepatitis and autism reveals roles for JAK1 kinase hyperactivity in autoinflammation
T Takeichi, JYW Lee, Y Okuno, Y Miyasaka… - Frontiers in …, 2022 - frontiersin.org
Heterozygous mutations in JAK1 which result in JAK-STAT hyperactivity have been implicated
in an autosomal dominant disorder that features multi-organ immune dysregulation. This …
in an autosomal dominant disorder that features multi-organ immune dysregulation. This …
Advantages of a mouse model for human hearing impairment
…, Y Seki, K Okumura, Y Ohshiba, Y Miyasaka… - Experimental …, 2012 - jstage.jst.go.jp
Hearing is a major factor in human quality of life. Mouse models are important tools for
discovering the genes that are responsible for genetic hearing loss, and these models often allow …
discovering the genes that are responsible for genetic hearing loss, and these models often allow …
Compound heterozygosity of the functionally null Cdh23v-ngt and hypomorphic Cdh23ahl alleles leads to early-onset progressive hearing loss in mice
Y Miyasaka, S Suzuki, Y Ohshiba, K Watanabe… - Experimental …, 2013 - jstage.jst.go.jp
The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for
Usher syndrome type 1D, which is characterized by congenital deafness, vestibular …
Usher syndrome type 1D, which is characterized by congenital deafness, vestibular …
c. 753A> G genome editing of a Cdh23ahl allele delays age-related hearing loss and degeneration of cochlear hair cells in C57BL/6J mice
…, X Hou, K Matsuoka, K Wada, H Shitara, Y Miyasaka… - Hearing Research, 2020 - Elsevier
C57BL/6J mice have long been studied as a model of age-related hearing loss (ARHL). In
C57BL/6J mice, ARHL begins in the high-frequency range at 3 months of age and spreads …
C57BL/6J mice, ARHL begins in the high-frequency range at 3 months of age and spreads …
[HTML][HTML] UVB-Induced Skin Autoinflammation Due to Nlrp1b Mutation and Its Inhibition by Anti-IL-1β Antibody
Y Murase, T Takeichi, J Koseki, Y Miyasaka… - Frontiers in …, 2022 - frontiersin.org
NLRP1 (NACHT and leucine-rich repeat-containing protein family, pyrin domain-containing
protein 1) is an innate immune sensor that is involved in the formation of inflammasome …
protein 1) is an innate immune sensor that is involved in the formation of inflammasome …
Structural basis for proteolytic processing of Aspergillus sojae α-glucosidase L with strong transglucosylation activity
Y Ding, A Oyagi, Y Miyasaka, T Kozono… - Journal of Structural …, 2022 - Elsevier
An α-glucosidase from Aspergillus sojae, AsojAgdL, exhibits strong transglucosylation activity
to produce α-1,6-glucosidic linkages. The most remarkable structural feature of AsojAgdL …
to produce α-1,6-glucosidic linkages. The most remarkable structural feature of AsojAgdL …
Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23
Y Miyasaka, H Shitara, S Suzuki… - Human Molecular …, 2016 - academic.oup.com
Most clinical reports have suggested that patients with congenital profound hearing loss
have recessive mutations in deafness genes, whereas dominant alleles are associated with …
have recessive mutations in deafness genes, whereas dominant alleles are associated with …
[HTML][HTML] A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells
Y Seki, Y Miyasaka, S Suzuki, K Wada, SP Yasuda… - PLoS …, 2017 - journals.plos.org
An unconventional myosin encoded by the myosin VI gene (MYO6) contributes to hearing
loss in humans. Homozygous mutations of MYO6 result in nonsyndromic profound congenital …
loss in humans. Homozygous mutations of MYO6 result in nonsyndromic profound congenital …
[HTML][HTML] Two loci contribute to age-related hearing loss resistance in the Japanese wild-derived inbred MSM/Ms mice
SP Yasuda, Y Miyasaka, X Hou, Y Obara, H Shitara… - Biomedicines, 2022 - mdpi.com
An MSM/Ms strain was established using Japanese wild mice, which exhibit resistance to
several phenotypes associated with aging, such as obesity, inflammation, and tumorigenesis, …
several phenotypes associated with aging, such as obesity, inflammation, and tumorigenesis, …