First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

Autor: Jan Gehlen, Ann-Sophie Giel, Ricarda Köllges, Stephan L. Haas, Rong Zhang, Jiri Trcka, Ayse Ö. Sungur, Florian Renziehausen, Dorothea Bornholdt, Daphne Jung, Paul D. Hoyer, Agneta Nordenskjöld, Dick Tibboel, John Vlot, Manon C.W. Spaander, Robert Smigiel, Dariusz Patkowski, Nel Roeleveld, Iris ALM. van Rooij, Ivo de Blaauw, Alice Hölscher, Marcus Pauly, Andreas Leutner, Joerg Fuchs, Joel Niethammer, Maria-Theodora Melissari, Ekkehart Jenetzky, Nadine Zwink, Holger Thiele, Alina Christine Hilger, Timo Hess, Jessica Trautmann, Matthias Marks, Martin Baumgarten, Gaby Bläss, Mikael Landén, Bengt Fundin, Cynthia M. Bulik, Tracie Pennimpede, Michael Ludwig, Kerstin U. Ludwig, Elisabeth Mangold, Stefanie Heilmann-Heimbach, Susanne Moebus, Bernhard G. Herrmann, Kristina Alsabeah, Carmen M. Burgos, Helene E. Lilja, Sahar Azodi, Pernilla Stenström, Einar Arnbjörnsson, Barbora Frybova, Dariusz M. Lebensztejn, Wojciech Debek, Elwira Kolodziejczyk, Katarzyna Kozera, Jaroslaw Kierkus, Piotr Kaliciński, Marek Stefanowicz, Anna Socha-Banasiak, Michal Kolejwa, Anna Piaseczna-Piotrowska, Elzbieta Czkwianianc, Markus M. Nöthen, Phillip Grote, Michal Rygl, Konrad Reinshagen, Nicole Spychalski, Barbara Ludwikowski, Jochen Hubertus, Andreas Heydweiller, Benno Ure, Oliver J. Muensterer, Ophelia Aubert, Jan-Hendrik Gosemann, Martin Lacher, Petra Degenhardt, Thomas M. Boemers, Anna Mokrowiecka, Ewa Małecka-Panas, Markus Wöhr, Michael Knapp, Guido Seitz, Annelies de Klein, Grzegorz Oracz, Erwin Brosens, Heiko Reutter, Johannes Schumacher

Publikováno v: HGG Advances, Vol 3, Iss 2, Pp 100093- (2022)

Summary: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/

Externí odkaz: https://doaj.org/article/e9a5e2a8eb8e4559958fd4286f773ad1

More than fetal urine

Autor: Nel Roeleveld, Erwin Brosens, Benno E. Ure, Ekkehart Jenetzky, Joerg Arand, Soyhan Bagci, Dick Tibboel, Ivo de Blaauw, Oliver Münsterer, Charlotte H. W. Wijers, Johannes Schumacher, Paul M. A. Broens, Heiko Reutter, Nadine Zwink, Alice Hölscher, Eberhard Schmiedeke, Mattias Schäfer, Martin Lacher, Hanneke IJsselstijn, David Katzer, Thomas M. Boemers, Iris A.L.M. van Rooij, Peter Bartmann, Vera Choinitzki, Annelies de Klein, Marcus Pauly

Publikováno v: European Journal of Pediatrics, 175, 825-31
European Journal of Pediatrics, 175(6), 825-831. SPRINGER
European Journal of Pediatrics, 175, 6, pp. 825-31
European Journal of Pediatrics, 175(6), 825-831. Springer-Verlag

Contains fulltext : 170996.pdf (Publisher’s version ) (Closed access) The purpose of our study was to investigate the importance of amniotic fluid (AF) for fetal growth during late gestation using esophageal atresia (EA) patients as a model. In thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4da3bd1db049c9b060e4d3ae395f68
https://doi.org/10.1007/s00431-016-2713-y

Quality of Life after Surgical Treatment for Esophageal Atresia: Long-Term Outcome of 154 Patients

Autor: Michael Laschat, Andreas Leutner, Thomas M. Boemers, Ulrike Brokmeier, Ekkehart Jenetzky, Nadine Zwink, Heiko Reutter, Oliver Münsterer, Martin Lacher, Ralf Kurz, Vera Choinitzki, Marcus Pauly, Alice Hölscher, Johannes Schumacher, Benno M. Ure

Publikováno v: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie. 27(5)

Background The short- and long-term surgical results in patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) have been described in depth from a physician's perspective. Contrarily, the perception and coping strategie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::312853b9421ea8f330a068f2527f7ca9
https://pubmed.ncbi.nlm.nih.gov/28061521

Inhibition of UV-lnduced Immune Suppression and lnterleukin-10 Production by Plant Oligosaccharides and Polysaccharides

Autor: Faith M. Strickland, Stefan Eberhard, Marcus Pauly, Ronald P. Pelley, Peter Albersheim, Alan G. Darvill

Publikováno v: Photochemistry and Photobiology. 69:141-147

Application of Aloe barbadensis poly/oligosaccharides to UV-irradiated skin prevents photosuppression of delayed-type hypersensitivity (DTH) responses in mice. We tested the hypothesis that these carbohydrates belong to a family of biologically activ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f95de9e8e891b9788bea118c4a5121d3
https://doi.org/10.1111/j.1751-1097.1999.tb03266.x

Urinary calcium excretion in children with spina bifida: correlation to level of lesion, mobility and frequency of fractures?

Autor: Reinhold Cremer, Marcus Pauly

Publikováno v: Cerebrospinal Fluid Research, Vol 6, Iss Suppl 2, p S35 (2009)
Cerebrospinal Fluid Research

Conclusion The urinary calcium cannot be used as an easy method to predict the risk of fractures due to osteopenia. The correlation of serum calcium levels mobility parameters has to be explained by further investigations with more patients and refin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2677ba95bb5a1522ea6cf08af0367b9f
https://doaj.org/article/bda80b218a9a47c88d5196157e50c136