Cargando…
Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease
Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam an...
Autores principales: | Kaukonen, Maria, Woods, Sean, Ahonen, Saija, Lemberg, Seppo, Hellman, Maarit, Hytönen, Marjo K., Permi, Perttu, Glaser, Tom, Lohi, Hannes |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6546432/ https://www.ncbi.nlm.nih.gov/pubmed/29847795 http://dx.doi.org/10.1016/j.celrep.2018.04.118 |
Ejemplares similares
-
Canine MPV17 truncation without clinical manifestations
por: Hänninen, Reetta L., et al.
Publicado: (2015) -
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
por: Hytönen, Marjo K., et al.
Publicado: (2019) -
Canine models of human rare disorders
por: Hytönen, Marjo K., et al.
Publicado: (2016) -
Increased Expression of MERTK is Associated with a Unique Form of Canine Retinopathy
por: Ahonen, Saija J., et al.
Publicado: (2014) -
A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
por: Hytönen, Marjo K., et al.
Publicado: (2019)