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A Partial UMOD Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin.

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Title: A Partial UMOD Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin.
Authors: Fagnoul S; Department of Nephrology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.; Institut Interdisciplinaire en biologie humaine et moléculaire (IRIBHM - Jacques E. Dumont), Université Libre de Bruxelles (ULB), Brussels, Belgium., Ghisdal L; Department of Nephrology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium., Marangoni M; Department of Genetics, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium., Detry C; Department of Genetics, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium., Dacremont-Rodriguez P; Department of Genetics, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium., Bisteau X; Institut Interdisciplinaire en biologie humaine et moléculaire (IRIBHM - Jacques E. Dumont), Université Libre de Bruxelles (ULB), Brussels, Belgium., Imbault V; Institut Interdisciplinaire en biologie humaine et moléculaire (IRIBHM - Jacques E. Dumont), Université Libre de Bruxelles (ULB), Brussels, Belgium., Catalano C; Department of Nephrology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium., Smits G; Department of Genetics, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium., Le Moine A; Department of Nephrology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium., Migeotte I; Department of Genetics, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.; Institut Interdisciplinaire en biologie humaine et moléculaire (IRIBHM - Jacques E. Dumont), Université Libre de Bruxelles (ULB), Brussels, Belgium.; The Fonds National de la Recherche Scientifique (FNRS), Brussels, Belgium.
Source: Kidney medicine [Kidney Med] 2026 Jan 14; Vol. 8 (4), pp. 101265. Date of Electronic Publication: 2026 Jan 14 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101756300 Publication Model: eCollection Cited Medium: Internet ISSN: 2590-0595 (Electronic) Linking ISSN: 25900595 NLM ISO Abbreviation: Kidney Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Fagnoul+S%22">Fagnoul S</searchLink>; Department of Nephrology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.; Institut Interdisciplinaire en biologie humaine et moléculaire (IRIBHM - Jacques E. Dumont), Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Ghisdal+L%22">Ghisdal L</searchLink>; Department of Nephrology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Marangoni+M%22">Marangoni M</searchLink>; Department of Genetics, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Detry+C%22">Detry C</searchLink>; Department of Genetics, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Dacremont-Rodriguez+P%22">Dacremont-Rodriguez P</searchLink>; Department of Genetics, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Bisteau+X%22">Bisteau X</searchLink>; Institut Interdisciplinaire en biologie humaine et moléculaire (IRIBHM - Jacques E. Dumont), Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Imbault+V%22">Imbault V</searchLink>; Institut Interdisciplinaire en biologie humaine et moléculaire (IRIBHM - Jacques E. Dumont), Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Catalano+C%22">Catalano C</searchLink>; Department of Nephrology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Smits+G%22">Smits G</searchLink>; Department of Genetics, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Le+Moine+A%22">Le Moine A</searchLink>; Department of Nephrology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Migeotte+I%22">Migeotte I</searchLink>; Department of Genetics, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium.; Institut Interdisciplinaire en biologie humaine et moléculaire (IRIBHM - Jacques E. Dumont), Université Libre de Bruxelles (ULB), Brussels, Belgium.; The Fonds National de la Recherche Scientifique (FNRS), Brussels, Belgium.
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  Data: <searchLink fieldCode="JN" term="%22101756300%22">Kidney medicine</searchLink> [Kidney Med] 2026 Jan 14; Vol. 8 (4), pp. 101265. <i>Date of Electronic Publication: </i>2026 Jan 14 (<i>Print Publication: </i>2026).
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