This study investigates the roles of SOX2 and SOX21 in the differentiation, distribution, and maturation of pulmonary neuroendocrine cells, showing that SOX2 suppresses precursor cell differentiation while SOX21 promotes it.

Cellular and Molecular Life Sciences · Mar 1, 2023Peer-reviewedDevelopmental Biology

Size matters: large copy number losses reveal novel Hirschsprung disease genes

Laura E. Kuil, Katherine C. MacKenzie, Clara Sze-Man Tang, Jonathan D. Windster, Linh Thuy Le, Anwarul Karim, Bianca M. de Graaf, Robert M. van der Helm, Yolande van Bever, Cornelius E. J. Sloots, Conny J. H. M. Meeussen, Dick Tibboel, Annelies de Klein, Rene M. H. Wijnen, Jeanne Amiel, , Erwin Brosens

The paper identifies large copy number losses as contributors to Hirschsprung disease, specifically in HSCR-AAM patients, and validates four genes involved in enteric nervous system development.

PLoS Genetics · Aug 6, 2021Peer-reviewedGenetic & Genomic Medicine

Models for infantile hypertrophic pyloric stenosis development in patients with esophageal atresia

Chantal A. ten Kate, Rutger W. W. Brouwer, Yolande van Bever, Vera K. Martens, Tom Brands, Nicole W. G. van Beelen, Alice S. Brooks, Daphne Huigh, Bert J.F.M.M. Eussen, Wilfred F. J. van IJcken, Hanneke IJsselstijn, Dick Tibboel, Rene M. H. Wijnen, Annelies de Klein, Robert M.W. Hofstra, Erwin Brosens

The paper investigates genetic and environmental factors contributing to the co-occurrence of esophageal atresia and infantile hypertrophic pyloric stenosis, finding a significant association with a risk SNP but no clear single genetic cause.

bioRxiv · May 2, 2019 · PreprintGenetics