| http://purl.uniprot.org/citations/34463328 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34463328 | http://www.w3.org/2000/01/rdf-schema#comment | "Pathogenic gene variants in humans that affect the sonic hedgehog (SHH) pathway lead to severe brain malformations with variable penetrance due to unknown modifier genes. To identify such modifiers, we established novel congenic mouse models. LRP2-deficient C57BL/6N mice suffer from heart outflow tract defects and holoprosencephaly caused by impaired SHH activity. These defects are fully rescued on a FVB/N background, indicating a strong influence of modifier genes. Applying comparative transcriptomics, we identified Pttg1 and Ulk4 as candidate modifiers upregulated in the rescue strain. Functional analyses showed that ULK4 and PTTG1, both microtubule-associated proteins, are positive regulators of SHH signaling, rendering the pathway more resilient to disturbances. In addition, we characterized ULK4 and PTTG1 as previously unidentified components of primary cilia in the neuroepithelium. The identification of genes that powerfully modulate the penetrance of genetic disturbances affecting the brain and heart is likely relevant to understanding the variability in human congenital disorders."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.org/dc/terms/identifier | "doi:10.1242/dev.199307"xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Richter M."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Sporbert A."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Mamo T.M."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Lehmann M."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Hubner N."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Mecklenburg N."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Hammes A."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Witte F."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Purfurst B."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Kowalczyk I."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Gonschior H."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Gorne J."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/author | "Laier A."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/name | "Development"xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/pages | "dev199307"xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/title | "Identification of disease-relevant modulators of the SHH pathway in the developing brain."xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://purl.uniprot.org/core/volume | "148"xsd:string |
| http://purl.uniprot.org/citations/34463328 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/34463328 |
| http://purl.uniprot.org/citations/34463328 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/34463328 |
| http://purl.uniprot.org/uniprot/#_D4Q8H8-mappedCitation-34463328 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34463328 |
| http://purl.uniprot.org/uniprot/#_D4Q8I4-mappedCitation-34463328 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34463328 |