Cargando…
A de novo variant in the ASPRV1 gene in a dog with ichthyosis
Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key pl...
Autores principales: | Bauer, Anina, Waluk, Dominik P., Galichet, Arnaud, Timm, Katrin, Jagannathan, Vidhya, Sayar, Beyza S., Wiener, Dominique J., Dietschi, Elisabeth, Müller, Eliane J., Roosje, Petra, Welle, Monika M., Leeb, Tosso |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352138/ https://www.ncbi.nlm.nih.gov/pubmed/28249031 http://dx.doi.org/10.1371/journal.pgen.1006651 |
Ejemplares similares
-
SUV39H2 epigenetic silencing controls fate conversion of epidermal stem and progenitor cells
por: Balmer, Pierre, et al.
Publicado: (2021) -
A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype
por: Waluk, Dominik P., et al.
Publicado: (2016) -
Novel insights into the pathways regulating the canine hair cycle and their deregulation in alopecia X
por: Brunner, Magdalena A. T., et al.
Publicado: (2017) -
An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture
por: Murgiano, Leonardo, et al.
Publicado: (2016) -
A curated catalog of canine and equine keratin genes
por: Balmer, Pierre, et al.
Publicado: (2017)