Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

@inproceedings{Verdin2015ProfilingOC,
  title={Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape},
  author={Hannah Verdin and Ana Fern{\'a}ndez-Mi{\~n}{\'a}n and Sara Benito-Sanz and Sandra Janssens and Bert Callewaert and Kathleen De Waele and Jean de Schepper and I. B. François and Bj{\"o}rn Menten and Karen E Heath and Jos{\'e} Luis G{\'o}mez-Skarmeta and Elfride de Baere},
  booktitle={Scientific reports},
  year={2015}
}
Genetic defects such as copy number variations (CNVs) in non-coding regions containing conserved non-coding elements (CNEs) outside the transcription unit of their target gene, can underlie genetic disease. An example of this is the short stature homeobox (SHOX) gene, regulated by seven CNEs located downstream and upstream of SHOX, with proven enhancer capacity in chicken limbs. CNVs of the downstream CNEs have been reported in many idiopathic short stature (ISS) cases, however, only recently… CONTINUE READING
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