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De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

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Title: De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.
Authors: Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031, Basel, Switzerland.; Department of Ophthalmology, University of Basel, 4031, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, LE1 7RH, UK., Rutz S; Department of Biochemistry University of Zurich, 8057, Zurich, Switzerland., Peter V; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031, Basel, Switzerland.; Department of Ophthalmology, University of Basel, 4031, Basel, Switzerland., Garavelli L; Clinical Genetics Unit, Azienda USL-IRCCS of Reggio Emilia, 42123, Reggio Emilia, Italy., Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T3B 6A8, Canada., Lehmann EF; Department of Biochemistry University of Zurich, 8057, Zurich, Switzerland., Kellenberger S; Department of biomedical Sciences, University of, Lausanne, 1011, Lausanne, Switzerland., Peng Z; Department of biomedical Sciences, University of, Lausanne, 1011, Lausanne, Switzerland., Barone A; Pediatric Onco-Hematology Unit, Children's Hospital, Parma University Hospital, Parma, Italy., Campos-Xavier B; Division of Genetic Medicine, Lausanne University Hospital (CHUV), and University of Lausanne, 1011, Lausanne, Switzerland., Unger S; Division of Genetic Medicine, Lausanne University Hospital (CHUV), and University of Lausanne, 1011, Lausanne, Switzerland.; Genetica AG, Zurich and Lausanne, Switzerland., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031, Basel, Switzerland. carlo.rivolta@iob.ch.; Department of Ophthalmology, University of Basel, 4031, Basel, Switzerland. carlo.rivolta@iob.ch.; Department of Genetics and Genome Biology, University of Leicester, Leicester, LE1 7RH, UK. carlo.rivolta@iob.ch., Dutzler R; Department of Biochemistry University of Zurich, 8057, Zurich, Switzerland. dutzler@bioc.uzh.ch., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV), and University of Lausanne, 1011, Lausanne, Switzerland. asuperti@unil.ch.; Genetica AG, Zurich and Lausanne, Switzerland. asuperti@unil.ch.
Source: The EMBO journal [EMBO J] 2025 Jan; Vol. 44 (2), pp. 413-436. Date of Electronic Publication: 2024 Dec 02.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.
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  Data: <searchLink fieldCode="AU" term="%22Quinodoz+M%22">Quinodoz M</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031, Basel, Switzerland.; Department of Ophthalmology, University of Basel, 4031, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, LE1 7RH, UK.<br /><searchLink fieldCode="AU" term="%22Rutz+S%22">Rutz S</searchLink>; Department of Biochemistry University of Zurich, 8057, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Peter+V%22">Peter V</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031, Basel, Switzerland.; Department of Ophthalmology, University of Basel, 4031, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Garavelli+L%22">Garavelli L</searchLink>; Clinical Genetics Unit, Azienda USL-IRCCS of Reggio Emilia, 42123, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T3B 6A8, Canada.<br /><searchLink fieldCode="AU" term="%22Lehmann+EF%22">Lehmann EF</searchLink>; Department of Biochemistry University of Zurich, 8057, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kellenberger+S%22">Kellenberger S</searchLink>; Department of biomedical Sciences, University of, Lausanne, 1011, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Peng+Z%22">Peng Z</searchLink>; Department of biomedical Sciences, University of, Lausanne, 1011, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Barone+A%22">Barone A</searchLink>; Pediatric Onco-Hematology Unit, Children's Hospital, Parma University Hospital, Parma, Italy.<br /><searchLink fieldCode="AU" term="%22Campos-Xavier+B%22">Campos-Xavier B</searchLink>; Division of Genetic Medicine, Lausanne University Hospital (CHUV), and University of Lausanne, 1011, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Unger+S%22">Unger S</searchLink>; Division of Genetic Medicine, Lausanne University Hospital (CHUV), and University of Lausanne, 1011, Lausanne, Switzerland.; Genetica AG, Zurich and Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rivolta+C%22">Rivolta C</searchLink>; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031, Basel, Switzerland. carlo.rivolta@iob.ch.; Department of Ophthalmology, University of Basel, 4031, Basel, Switzerland. carlo.rivolta@iob.ch.; Department of Genetics and Genome Biology, University of Leicester, Leicester, LE1 7RH, UK. carlo.rivolta@iob.ch.<br /><searchLink fieldCode="AU" term="%22Dutzler+R%22">Dutzler R</searchLink>; Department of Biochemistry University of Zurich, 8057, Zurich, Switzerland. dutzler@bioc.uzh.ch.<br /><searchLink fieldCode="AU" term="%22Superti-Furga+A%22">Superti-Furga A</searchLink>; Division of Genetic Medicine, Lausanne University Hospital (CHUV), and University of Lausanne, 1011, Lausanne, Switzerland. asuperti@unil.ch.; Genetica AG, Zurich and Lausanne, Switzerland. asuperti@unil.ch.
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