http://purl.uniprot.org/citations/28592524 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/28592524 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundCongenital heart disease (CHD) is a common birth defect affecting approximately 1% of newborns. Great progress has been made in elucidating the genetic aetiology of CHD with advances in genomic technology, which we leveraged in recovering a new pathway affecting heart development in humans previously known to affect heart development in an animal model.MethodsFour hundred and sixteen individuals from Thailand and the USA diagnosed with CHD and/or congenital diaphragmatic hernia were evaluated with chromosomal microarray and whole exome sequencing. The DECIPHER Consortium and medical literature were searched for additional patients. Murine hearts from ENU-induced mouse mutants and transgenic mice were evaluated using both episcopic confocal histopathology and troponin I stained sections.ResultsLoss of function ROBO1 variants were identified in three families; each proband had a ventricular septal defect, and one proband had tetralogy of Fallot. Additionally, a microdeletion in an individual with CHD was found in the medical literature. Mouse models showed perturbation of the Slit-Robo signalling pathway, causing septation and outflow tract defects and craniofacial anomalies. Two probands had variable facial features consistent with the mouse model.ConclusionOur findings identify Slit-Robo as a significant pathway in human heart development and CHD."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmedgenet-2017-104611"xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Liu X."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Yu L."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Crosby K."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Mefford H.C."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Chung W.K."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Muenke M."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Lo C.W."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Wynn J."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Berger S.I."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Martinez A.F."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Kruszka P."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Bennett J.T."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Tanpaiboon P."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Neas K."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Mommersteeg M.T.M."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Reynolds W.T."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Sittiwangkul R."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Pongprot Y."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Addissie Y.A."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Makonkawkeyoon K."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/author | "Silvilairat S."xsd:string |
http://purl.uniprot.org/citations/28592524 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |