Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes

Keratitis-ichthyosis-deafness (KID) syndrome is a severe, untreatable condition characterized by ocular, auditory, and cutaneous abnormalities, with major complications of infection and skin cancer. Most cases of KID syndrome (86%) are caused by a heterozygous missense mutation (c.148G>A, p.D50N)...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of investigative dermatology 2020-05, Vol.140 (5), p.1035-1044.e7
Hauptverfasser:	Lee, Ming Yang, Wang, Hong-Zhan, White, Thomas W., Brooks, Tony, Pittman, Alan, Halai, Heerni, Petrova, Anastasia, Xu, Diane, Hart, Stephen L., Kinsler, Veronica A., Di, Wei-Li
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Cell Line Chimera Connexins - genetics Gap Junctions - metabolism Heterografts Heterozygote Humans Keratinocytes - physiology Keratitis - genetics Keratitis - therapy Membrane Potentials Mice Mutation, Missense - genetics RNA, Small Interfering - genetics Skin - metabolism Skin - pathology Skin Transplantation
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!