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| http://purl.uniprot.org/citations/32699115 | http://www.w3.org/2000/01/rdf-schema#comment | "The GLIS 1-3 genes belong to a family of transcription factors, the Krüppel-like zinc finger proteins. The GLIS proteins function primarily as activators of transcription (GLIS 1 and 3), while GLIS 2 functions as a repressor. Collectively, the GLIS proteins are involved in a variety of diseases in several organs ranging from Alzheimer's disease, facial dysmorphism, neonatal diabetes mellitus, breast and colon cancers and leukaemia. In particular, loss-of-function mutations in GLIS2 are responsible for an autosomal recessive cystic kidney disease called nephronophthisis, which is characterised by tubular atrophy, interstitial fibrosis and corticomedullary cysts.Of diagnostic value in current practice are the presence of GLIS 3 and 1 fusions with PAX8 in almost 100% of hyalinising trabecular tumours of the thyroid gland. This enables its separation from papillary thyroid cancer."xsd:string |
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| http://purl.uniprot.org/citations/32699115 | http://purl.uniprot.org/core/author | "Chetty R."xsd:string |
| http://purl.uniprot.org/citations/32699115 | http://purl.uniprot.org/core/author | "Pinto K."xsd:string |
| http://purl.uniprot.org/citations/32699115 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32699115 | http://purl.uniprot.org/core/name | "J Clin Pathol"xsd:string |
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| http://purl.uniprot.org/citations/32699115 | http://purl.uniprot.org/core/title | "Gene of the month: GLIS1-3."xsd:string |
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