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Alliance"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:p>\n                    The interplay between genetic and environmental factors influences the course of chronic kidney disease (CKD). In this context, genetic alterations in the kidney disease gene\n                    <jats:italic>MUC1<\/jats:italic>\n                    (Mucin1) predispose to the development of CKD. These variations comprise the polymorphism rs4072037, which alters splicing of MUC1 mRNA, the length of a region with variable number of tandem repeats (VNTR), and rare autosomal-dominant inherited dominant-negative mutations in or 5\u2032 to the VNTR that causes autosomal dominant tubulointerstitial kidney disease (ADTKD-\n                    <jats:italic>MUC1<\/jats:italic>\n                    ). As hypoxia plays a pivotal role in states of acute and chronic kidney injury, we explored the effects of hypoxia-inducible transcription factors (HIF) on the expression of\n                    <jats:italic>MUC1<\/jats:italic>\n                    and its pathogenic variants in isolated primary human renal tubular cells. We defined a HIF-binding DNA regulatory element in the promoter-proximal region of\n                    <jats:italic>MUC1<\/jats:italic>\n                    from which hypoxia or treatment with HIF stabilizers, which were recently approved for an anti-anemic therapy in CKD patients, increased levels of wild-type\n                    <jats:italic>MUC1<\/jats:italic>\n                    and the disease-associated variants. Thus, application of these compounds might exert unfavorable effects in patients carrying\n                    <jats:italic>MUC1<\/jats:italic>\n                    risk variants.\n                  <\/jats:p>","DOI":"10.26508\/lsa.202302078","type":"journal-article","created":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T13:50:14Z","timestamp":1686750614000},"page":"e202302078","update-policy":"https:\/\/doi.org\/10.26508\/lsa.crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Hypoxia controls expression of kidney-pathogenic\n                    <i>MUC1<\/i>\n                    variants"],"prefix":"10.26508","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9301-6631","authenticated-orcid":false,"given":"Stephanie","family":"Naas","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/0030f2a11","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Nephrology and Hypertension, Uniklinikum Erlangen","place":["und 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