0000000000089722
AUTHOR
Jörg Fuchs
showing 2 related works from this author
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia
2020
Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…
Reviewing the identity of the Maltese Polypodium (Polypodiaceae) – new evidence from morphology and flow cytometry
2020
The first record of Polypodium from Gozo (Maltese Islands) was described as a new endemic taxon, Polypodium vulgare subsp. melitense, based on its unique set of morphological characters. It was treated as a novelty and designated as a subspecies of P. vulgare mainly due to the lack of paraphyses, the presence of 10–16 annular cells, and a mean spore length of 64 μm. The fern was reassessed by us employing a more rigid morphological analysis and the application of flow cytometry. The absence of paraphyses was confirmed, but the number of annular cells (5–11) and the spore length (70–79 μm) differed from the previous study. These and other morphological traits, the phenology (leaf-shedding in…