Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes
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چکیده
منابع مشابه
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss
Mutation of the GJB2 gene, which encodes the connexin 26 (Cx26) gap junction (GJ) protein, is the most common cause of hereditary, sensorineural hearing loss. Cx26 is not expressed in hair cells, but is widely expressed throughout the non-sensory epithelial cells of the cochlea. Most GJB2 mutations produce non-syndromic deafness, but a subset produces syndromic deafness in which profound hearin...
متن کاملAberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine
Keratitis-ichthyosis-deafness (KID) syndrome is an ectodermal dysplasia caused by dominant mutations of connexin26 (Cx26). Loss of Cx26 function causes nonsyndromic sensorineural deafness, without consequence in the epidermis. Functional analyses have revealed that a majority of KID-causing mutations confer a novel expansion of hemichannel activity, mediated by connexin channels in a nonjunctio...
متن کاملKeratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad.
Keratitis-Ichthyosis-Deafness syndrome is a rare congenital disorder of the ectoderm caused by mutations in the connexin-26 gene (GJB2) on chromosome 13q11-q12, giving rise to keratitis, erythrokeratoderma and neurosensory deafness. We report the case of a 31-year-old black male diagnosed as having KID syndrome. Sequencing analysis showed a heterozygous missense mutation D50N (148G > A) in the ...
متن کاملSmall interfering RNA; principles, applications and challenges--
Gene silencing using RNAi (RNA interference), has recently been used as a successful laboratory technique in determining the function and control of gene expression and provides a wide range of applications in molecular biology and gene therapy. RNAi is a method of suppressing gene expression. In this direction, a single-stranded RNA molecule of about 21–23 nucleotides, called siRNA (small inte...
متن کاملLe Syndrome Kid ou Keratitis-Ichthyosis-Deafness Syndrome: à propos d'un cas
Le syndrome KID est une anomalie congénitale rare des tissus d'origine ectodermique, caractérisé par une kératite bilatérale progressive accompagnée de néovaisseaux (keratitis), une atteinte cutanée érythro-kératodermique et/ou ichtyosique (ichtyosis) et une surdité de perception sévère (deafness). Nous rapportons le cas d'un jeune garçon de 12 ans, suivi depuis deux ans pour ichtyose, qui cons...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2020
ISSN: 0022-202X
DOI: 10.1016/j.jid.2019.09.022