TY  - JOUR
AU  - Mederer, Tanja
AU  - Schmitteckert, Stefanie
AU  - Volz, Julia
AU  - Martinez, Cristina
AU  - Röth, Ralph
AU  - Thumberger, Thomas
AU  - Eckstein, Volker
AU  - Scheuerer, Jutta
AU  - Thöni, Cornelia
AU  - Lasitschka, Felix
AU  - Carstensen, Leonie
AU  - Günther, Patrick
AU  - Holland-Cunz, Stefan
AU  - Hofstra, Robert
AU  - Brosens, Erwin
AU  - Rosenfeld, Jill A
AU  - Schaaf, Christian P
AU  - Schriemer, Duco
AU  - Ceccherini, Isabella
AU  - Rusmini, Marta
AU  - Tilghman, Joseph
AU  - Luzón-Toro, Berta
AU  - Torroglosa, Ana
AU  - Borrego, Salud
AU  - Sze-Man Tang, Clara
AU  - Garcia-Barcelo, Merce
AU  - Tam, Paul
AU  - Paramasivam, Nagarajan
AU  - Bewerunge-Hudler, Melanie
AU  - De-La-Torre, Carolina
AU  - Gretz, Norbert
AU  - Rappold, Gudrun A
AU  - Romero, Philipp
AU  - Niesler, Beate
PY  - 2020
DO  - 10.1371/journal.pgen.1009106
UR  - http://hdl.handle.net/10668/16550
T2  - PLoS genetics
AB  - Hirschsprung disease (HSCR, OMIM 142623) involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. HSCR is a multifactorial disorder; pathogenetic variants...
LA  - en
PB  - Public Library of Science
KW  - Cell Differentiation
KW  - Cell Line
KW  - Computer Simulation
KW  - Disease Models, Animal
KW  - Gene Expression Profiling
KW  - Hirschsprung Disease
KW  - Infant
KW  - Mice
KW  - Exome Sequencing
KW  - ATP Binding Cassette Transporter, Subfamily D, Member 1
KW  - Animals
KW  - Cell Proliferation
KW  - Cell Survival
KW  - Copper-Transporting ATPases
KW  - Gene Knockout Techniques
KW  - Humans
KW  - Male
KW  - Protein Inhibitors of Activated STAT
KW  - Sterol Regulatory Element Binding Protein 1
TI  - A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
TY  - research article
VL  - 16
ER  -