10.25387/g3.6104780.v1
Erin E. Baschal
Erin E.
Baschal
Elizabeth A. Terhune
Elizabeth A.
Terhune
Cambria I. Wethey
Cambria I.
Wethey
Robin M. Baschal
Robin M.
Baschal
Kandice D. Robinson
Kandice D.
Robinson
Melissa T. Cuevas
Melissa T.
Cuevas
Shreyash Pradhan
Shreyash
Pradhan
Brittan S. Sutphin
Brittan
S. Sutphin
Matthew R.G. Taylor
Matthew R.G.
Taylor
Katherine Gowan
Katherine
Gowan
Chad G. Pearson
Chad
G. Pearson
Lee A. Niswander
Lee A.
Niswander
Kenneth L. Jones
Kenneth L.
Jones
Nancy H. Miller
Nancy H.
Miller
Supplemental Material for Baschal et al., 2018
GSA Journals
2018
Idiopathic scoliosis
exome sequencing
actin cytoskeleton
microtubules
cilia
extracellular matrix
Genetics
2018-06-20 20:52:29
Dataset
https://gsajournals.figshare.com/articles/dataset/Supplemental_Material_for_Baschal_et_al_2018/6104780
<p>Idiopathic
scoliosis (IS) is a complex genetic disease of unknown etiology. We completed exome sequencing for five IS
families and performed GO term enrichment analyses on the resulting variant
lists. Overall, we
identified enriched categories in our affected families that include stereocilia
and other actin-based cellular projections, cilia and other microtubule-based
cellular projections, and the extracellular matrix (ECM). Our results suggest that
there are multiple paths to IS and provide a foundation for future studies of
IS pathogenesis.</p><p></p>