Article
Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.
PloS one - 1 Jan 2012
Ripoll Clémentine, Rivals Isabelle, Ait Yahya-Graison Emilie, Dauphinot Luce, Paly Evelyne, Mircher Clothilde, Ravel Aimé, Grattau Yann, Bléhaut Henri, Mégarbane André, Dembour Guy, de Fréminville Bénédicte, Touraine Renaud, Créau Nicole, Potier Marie Claude, Delabar Jean Maurice
Abstract excerpt
Forty percent of people with Down syndrome exhibit heart defects, most often an atrioventricular septal defect (AVSD) and less frequently a ventricular septal defect (VSD) or atrial septal defect (ASD). Lymphoblastoid cell lines (LCLs) were established from lymphocytes of individuals with trisomy 21, the chromosomal abnormality causing Down syndrome. Gene expression profiles generated from DNA microarrays of LCLs...
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