L E Kuil, R K Chauhan, B M de Graaf, W W Cheng, N J M Kakiailatu, R Lasabuda, C Verhaeghe, J D Windster, D Schriemer, Z Azmani, A S Brooks, S Edie, R H Reeves, B J L Eggen, I T Shepherd, A J Burns, R M W Hofstra, V Melotte, E Brosens, M M Alves
Hirschsprung disease (HSCR) is a complex genetic disorder characterized by the absence of enteric nervous system (ENS) in the distal region of the intestine. Down Syndrome (DS) patients have a >50-fold higher risk of developing HSCR than the general population, suggesting that overexpression of human chromosome 21 (Hsa21) genes contribute to HSCR etiology. However, identification of responsible genes remains challenging. Here, we describe a genetic screening of potential candidate genes located on Hsa21, using the zebrafish...
December 19, 2023: Biochimica et Biophysica Acta. Molecular Basis of Disease