Cargando…
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals with SHOX deficiency are asymptomatic. To elucidate the factors that modify disea...
Autores principales: | Montalbano, Antonino, Juergensen, Lonny, Roeth, Ralph, Weiss, Birgit, Fukami, Maki, Fricke‐Otto, Susanne, Binder, Gerhard, Ogata, Tsutomu, Decker, Eva, Nuernberg, Gudrun, Hassel, David, Rappold, Gudrun A |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5167135/ https://www.ncbi.nlm.nih.gov/pubmed/27861128 http://dx.doi.org/10.15252/emmm.201606623 |
Ejemplares similares
-
A Track Record on SHOX: From Basic Research to Complex Models and Therapy
por: Marchini, Antonio, et al.
Publicado: (2016) -
The Homeobox Transcription Factor HOXA9 Is a Regulator of SHOX in U2OS Cells and Chicken Micromass Cultures
por: Durand, Claudia, et al.
Publicado: (2012) -
Alternative Splicing and Nonsense-Mediated RNA Decay Contribute to the Regulation of SHOX Expression
por: Durand, Claudia, et al.
Publicado: (2011) -
Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes
por: Hoffmann, Sandra, et al.
Publicado: (2021) -
Skeletal Deformity Associated with SHOX
Deficiency
por: Seki, Atsuhito, et al.
Publicado: (2014)