shox

Summary

Gene Symbol: shox
Description: short stature homeobox
Alias: si:ch211-134k13.1, zgc:123182, short stature homeobox protein
Species: zebrafish
Products:     shox

Top Publications

  1. Kenyon E, McEwen G, Callaway H, Elgar G. Functional analysis of conserved non-coding regions around the short stature hox gene (shox) in whole zebrafish embryos. PLoS ONE. 2011;6:e21498 pubmed publisher
    Mutations in the SHOX gene are responsible for Leri-Weill Dyschondrosteosis, a disorder characterised by mesomelic limb shortening...
  2. Poon K, Liebling M, Kondrychyn I, Brand T, Korzh V. Development of the cardiac conduction system in zebrafish. Gene Expr Patterns. 2016;21:89-96 pubmed publisher
    ..Fhf2a is represented by three transcripts, one of which is expressed in the developing heart. These transgenics are useful tools for studies of development of the CCS and cardiac disease. ..
  3. Sawada R, Kamei H, Hakuno F, Takahashi S, Shimizu T. In vivo loss of function study reveals the short stature homeobox-containing (shox) gene plays indispensable roles in early embryonic growth and bone formation in zebrafish. Dev Dyn. 2015;244:146-56 pubmed publisher
    Congenital loss of the SHOX gene is considered to be a genetic cause of short stature phenotype in Turner syndrome and Leri-Weill dyschondrosteosis patients...
  4. Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke Otto S, et al. Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO Mol Med. 2016;8:1455-1469 pubmed publisher
    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...