| http://purl.uniprot.org/citations/32511952 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32511952 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital heart disease (CHD) is the most common birth defect, and the leading cause of death due to birth defects, yet causative molecular mechanisms remain mostly unknown. We previously implicated a novel CHD candidate gene, SHROOM3, in a patient with CHD. Using a Shroom3 gene trap knockout mouse (Shroom3gt/gt) we demonstrate that SHROOM3 is downstream of the noncanonical Wnt planar cell polarity signaling pathway (PCP) and loss-of-function causes cardiac defects. We demonstrate Shroom3 expression within cardiomyocytes of the ventricles and interventricular septum from E10.5 onward, as well as within cardiac neural crest cells and second heart field cells that populate the cardiac outflow tract. We demonstrate that Shroom3gt/gt mice exhibit variable penetrance of a spectrum of CHDs that include ventricular septal defects, double outlet right ventricle, and thin left ventricular myocardium. This CHD spectrum phenocopies what is observed with disrupted PCP. We show that during cardiac development SHROOM3 interacts physically and genetically with, and is downstream of, key PCP signaling component Dishevelled 2. Within Shroom3gt/gt hearts we demonstrate disrupted terminal PCP components, actomyosin cytoskeleton, cardiomyocyte polarity, organization, proliferation and morphology. Together, these data demonstrate SHROOM3 functions during cardiac development as an actomyosin cytoskeleton effector downstream of PCP signaling, revealing SHROOM3's novel role in cardiac development and CHD."xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ydbio.2020.05.013"xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://purl.uniprot.org/core/author | "Ware S.M."xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://purl.uniprot.org/core/author | "Firulli A.B."xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://purl.uniprot.org/core/author | "Lorentz S."xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://purl.uniprot.org/core/author | "Durbin M.D."xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://purl.uniprot.org/core/author | "O'Kane J."xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32511952 | http://purl.uniprot.org/core/name | "Dev Biol"xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://purl.uniprot.org/core/pages | "124-136"xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://purl.uniprot.org/core/title | "SHROOM3 is downstream of the planar cell polarity pathway and loss-of-function results in congenital heart defects."xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://purl.uniprot.org/core/volume | "464"xsd:string |
| http://purl.uniprot.org/citations/32511952 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/32511952 |
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| http://purl.uniprot.org/uniprot/#_D3YVA3-mappedCitation-32511952 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32511952 |