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. |
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| 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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| ISSN: | 1460-2075 |
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| DOI: | 10.1038/s44318-024-00322-y |
