| http://purl.uniprot.org/citations/31178402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31178402 | http://www.w3.org/2000/01/rdf-schema#comment | "Neurogenin3 (NEUROG3) is required for endocrine lineage formation of the pancreas and intestine. Patients with NEUROG3 mutations are born with congenital malabsorptive diarrhea due to complete loss of enteroendocrine cells, whereas endocrine pancreas development varies in an allele-specific manner. These findings suggest a context-dependent requirement for NEUROG3 in pancreas versus intestine. We utilized human tissue differentiated from NEUROG3-/- pluripotent stem cells for functional analyses. Most disease-associated alleles had hypomorphic or null phenotype in both tissues, whereas the S171fsX68 mutation had reduced activity in the pancreas but largely null in the intestine. Biochemical studies revealed NEUROG3 variants have distinct molecular defects with altered protein stability, DNA binding, and gene transcription. Moreover, NEUROG3 was highly unstable in the intestinal epithelium, explaining the enhanced sensitivity of intestinal defects relative to the pancreas. These studies emphasize that studies of human mutations in the endogenous tissue context may be required to assess structure-function relationships."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.devcel.2019.05.017"xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/author | "Zhang X."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/author | "Wells J.M."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/author | "Kovall R."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/author | "Gebelein B."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/author | "Schweitzer J."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/author | "Salomone J."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/author | "Rahal M."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/author | "McCauley H.A."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/author | "McGrath P.S."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/name | "Dev Cell"xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/pages | "367-380.e7"xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/title | "A Comprehensive Structure-Function Study of Neurogenin3 Disease-Causing Alleles during Human Pancreas and Intestinal Organoid Development."xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://purl.uniprot.org/core/volume | "50"xsd:string |
| http://purl.uniprot.org/citations/31178402 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31178402 |
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