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Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

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Title: Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.
Authors: Vignard V; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France., Maillasson M; Nantes Université, CNRS, INSERM, CRCI(2)NA, Nantes 44000, France; Nantes Université, CHU Nantes, CNRS, INSERM, SFR Bonamy, Imp@ct Platform, Nantes 44000, France., Bigot A; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France., Küry S; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France., Besnard T; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France., Broly M; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France., Guého A; Univ Rennes, Inserm, EHESP, Irset (Institut de Recherche en Santé, Environnement et Travail) - UMR_S 1085, Rennes F-35000, France; Univ Rennes, CNRS, Inserm, Biosit UAR 3480 US_S 018, Protim Core Facility, Rennes F-35000, France., Com E; Univ Rennes, Inserm, EHESP, Irset (Institut de Recherche en Santé, Environnement et Travail) - UMR_S 1085, Rennes F-35000, France; Univ Rennes, CNRS, Inserm, Biosit UAR 3480 US_S 018, Protim Core Facility, Rennes F-35000, France., Davis E; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27705, USA., Deb W; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France., Florenceau L; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France., Sobriel K; Nantes Université, CNRS, INSERM, CRCI(2)NA, Nantes 44000, France; Nantes Université, CHU Nantes, CNRS, INSERM, SFR Bonamy, Imp@ct Platform, Nantes 44000, France., Ménard G; Nantes Université, CNRS, INSERM, CRCI(2)NA, Nantes 44000, France; Nantes Université, CHU Nantes, CNRS, INSERM, SFR Bonamy, Imp@ct Platform, Nantes 44000, France., Gardie B; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Ecole Pratique des Hautes Etudes, EPHE, Université PSL, France., Goldenberg A; Département de Génétique, CHU de Rouen, Rouen 76031, France., Porrmann J; Institute for Clinical Genetics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany., Richardson R; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Ruffier L; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France., Hadj-Rabia S; Department of Dermatology and National Reference Center for Rare Skin Diseases and Genodermatoses (MAGEC), Hôpital Necker-Enfants Malades, AP-HP5, Paris, France; INSERM U1163, Institut Imagine, Paris University, Paris, France., Bézieau S; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France., Barbarot S; Nantes Université, CHU Nantes, Service de Dermatologie, Nantes 44000, France., Ebstein F; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France. Electronic address: frederic.ebstein@univ-nantes.fr., Mercier S; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France. Electronic address: sandra.mercier@chu-nantes.fr.
Source: EBioMedicine [EBioMedicine] 2025 Sep; Vol. 119, pp. 105864. Date of Electronic Publication: 2025 Aug 20.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.
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  Data: <searchLink fieldCode="AU" term="%22Vignard+V%22">Vignard V</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Maillasson+M%22">Maillasson M</searchLink>; Nantes Université, CNRS, INSERM, CRCI(2)NA, Nantes 44000, France; Nantes Université, CHU Nantes, CNRS, INSERM, SFR Bonamy, Imp@ct Platform, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Bigot+A%22">Bigot A</searchLink>; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Küry+S%22">Küry S</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Broly+M%22">Broly M</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Guého+A%22">Guého A</searchLink>; Univ Rennes, Inserm, EHESP, Irset (Institut de Recherche en Santé, Environnement et Travail) - UMR_S 1085, Rennes F-35000, France; Univ Rennes, CNRS, Inserm, Biosit UAR 3480 US_S 018, Protim Core Facility, Rennes F-35000, France.<br /><searchLink fieldCode="AU" term="%22Com+E%22">Com E</searchLink>; Univ Rennes, Inserm, EHESP, Irset (Institut de Recherche en Santé, Environnement et Travail) - UMR_S 1085, Rennes F-35000, France; Univ Rennes, CNRS, Inserm, Biosit UAR 3480 US_S 018, Protim Core Facility, Rennes F-35000, France.<br /><searchLink fieldCode="AU" term="%22Davis+E%22">Davis E</searchLink>; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27705, USA.<br /><searchLink fieldCode="AU" term="%22Deb+W%22">Deb W</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Florenceau+L%22">Florenceau L</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Sobriel+K%22">Sobriel K</searchLink>; Nantes Université, CNRS, INSERM, CRCI(2)NA, Nantes 44000, France; Nantes Université, CHU Nantes, CNRS, INSERM, SFR Bonamy, Imp@ct Platform, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Ménard+G%22">Ménard G</searchLink>; Nantes Université, CNRS, INSERM, CRCI(2)NA, Nantes 44000, France; Nantes Université, CHU Nantes, CNRS, INSERM, SFR Bonamy, Imp@ct Platform, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Gardie+B%22">Gardie B</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Ecole Pratique des Hautes Etudes, EPHE, Université PSL, France.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Département de Génétique, CHU de Rouen, Rouen 76031, France.<br /><searchLink fieldCode="AU" term="%22Porrmann+J%22">Porrmann J</searchLink>; Institute for Clinical Genetics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Richardson+R%22">Richardson R</searchLink>; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA.<br /><searchLink fieldCode="AU" term="%22Ruffier+L%22">Ruffier L</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Hadj-Rabia+S%22">Hadj-Rabia S</searchLink>; Department of Dermatology and National Reference Center for Rare Skin Diseases and Genodermatoses (MAGEC), Hôpital Necker-Enfants Malades, AP-HP5, Paris, France; INSERM U1163, Institut Imagine, Paris University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bézieau+S%22">Bézieau S</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Barbarot+S%22">Barbarot S</searchLink>; Nantes Université, CHU Nantes, Service de Dermatologie, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Ebstein+F%22">Ebstein F</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France. Electronic address: frederic.ebstein@univ-nantes.fr.<br /><searchLink fieldCode="AU" term="%22Mercier+S%22">Mercier S</searchLink>; Nantes Université, CNRS, INSERM, l'institut du Thorax, Nantes 44000, France; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France. Electronic address: sandra.mercier@chu-nantes.fr.
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  Data: <searchLink fieldCode="JN" term="%22101647039%22">EBioMedicine</searchLink> [EBioMedicine] 2025 Sep; Vol. 119, pp. 105864. <i>Date of Electronic Publication: </i>2025 Aug 20.
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