المؤلفون: Prior R; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium.; Department of Ophthalmology, Medical Faculty, University of Bonn, 53127, Bonn, Germany., Silva A; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium., Vangansewinkel T; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium.; UHasselt - Hasselt University, Biomedical Research Institute, 3590, Diepenbeek, Belgium., Idkowiak J; Laboratory of Lipid Metabolism and Cancer, Department of Oncology, KU Leuven, 3000, Leuven, Belgium.; Department of Analytical Chemistry, Faculty of Chemical Technology, University of Pardubice, 532 10, Pardubice, Czech Republic., Tharkeshwar AK; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium., Hellings TP; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Michailidou I; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Vreijling J; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Loos M; Sylics (Synaptologics BV), Antonie van Leeuwenhoeklaan 9, 3721 MA, Bilthoven, The Netherlands., Koopmans B; Sylics (Synaptologics BV), Antonie van Leeuwenhoeklaan 9, 3721 MA, Bilthoven, The Netherlands., Vlek N; Sylics (Synaptologics BV), Antonie van Leeuwenhoeklaan 9, 3721 MA, Bilthoven, The Netherlands., Agaser C; Department of Biomedical Data Sciences, Sequencing Analysis Support Core, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Kuipers TB; Department of Biomedical Data Sciences, Sequencing Analysis Support Core, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Michiels C; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium., Rossaert E; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium., Verschoren S; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium., Vermeire W; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium., de Laat V; Laboratory of Lipid Metabolism and Cancer, Department of Oncology, KU Leuven, 3000, Leuven, Belgium., Dehairs J; Laboratory of Lipid Metabolism and Cancer, Department of Oncology, KU Leuven, 3000, Leuven, Belgium., Eggermont K; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium., van den Biggelaar D; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium., Bademosi AT; Clem Jones Centre for Ageing Dementia Research, Queensland Brain Institute, The University of Queensland, Brisbane, 4072, Queensland, Australia., Meunier FA; Clem Jones Centre for Ageing Dementia Research, Queensland Brain Institute, The University of Queensland, Brisbane, 4072, Queensland, Australia.; School of Biomedical Sciences, The University of Queensland, Brisbane, 4072, Queensland, Australia., vandeVen M; UHasselt - Hasselt University, Biomedical Research Institute, 3590, Diepenbeek, Belgium., Van Damme P; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium.; University Hospitals Leuven, Department of Neurology, 3000, Leuven, Belgium., Mei H; Department of Biomedical Data Sciences, Sequencing Analysis Support Core, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Swinnen JV; Laboratory of Lipid Metabolism and Cancer, Department of Oncology, KU Leuven, 3000, Leuven, Belgium., Lambrichts I; UHasselt - Hasselt University, Biomedical Research Institute, 3590, Diepenbeek, Belgium., Baas F; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Fluiter K; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Wolfs E; UHasselt - Hasselt University, Biomedical Research Institute, 3590, Diepenbeek, Belgium., Van Den Bosch L; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, 3000, Leuven, Belgium.

المصدر: Brain : a journal of neurology [Brain] 2024 May 14. Date of Electronic Publication: 2024 May 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

المؤلفون: McCann AJ; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia., Lou J; School of Physics, Department of Biochemistry and Molecular Biology, Bio21, The University of Melbourne, Melbourne, VIC 3010, Australia., Moustaqil M; EMBL Australia Node in Single Molecule Science and School of Medical Sciences, The University of New South Wales, Sydney, NSW 1466, Australia., Graus MS; The David Richmond Laboratory for Cardio-Vascular Development: gene regulation and editing, The Centenary Institute, Newtown, Sydney, NSW 2006, Australia., Blum A; Clem Jones Centre for Ageing Dementia Research, Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia., Fontaine F; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia., Liu H; Janelia Research Campus, Howard Hughes Medical Institute, Ashburn, VA 20147, United States., Luu W; The David Richmond Laboratory for Cardio-Vascular Development: gene regulation and editing, The Centenary Institute, Newtown, Sydney, NSW 2006, Australia., Rudolffi-Soto P; EMBL Australia Node in Single Molecule Science and School of Medical Sciences, The University of New South Wales, Sydney, NSW 1466, Australia., Koopman P; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia., Sierecki E; EMBL Australia Node in Single Molecule Science and School of Medical Sciences, The University of New South Wales, Sydney, NSW 1466, Australia., Gambin Y; EMBL Australia Node in Single Molecule Science and School of Medical Sciences, The University of New South Wales, Sydney, NSW 1466, Australia., Meunier FA; Clem Jones Centre for Ageing Dementia Research, Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia., Liu Z; Janelia Research Campus, Howard Hughes Medical Institute, Ashburn, VA 20147, United States., Hinde E; School of Physics, Department of Biochemistry and Molecular Biology, Bio21, The University of Melbourne, Melbourne, VIC 3010, Australia., Francois M; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.; The David Richmond Laboratory for Cardio-Vascular Development: gene regulation and editing, The Centenary Institute, Newtown, Sydney, NSW 2006, Australia.; School of Life and Environmental Sciences, The University of Sydney, Sydney, NSW 2006, Australia.

المصدر: Nucleic acids research [Nucleic Acids Res] 2021 Nov 08; Vol. 49 (19), pp. 10931-10955.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Transcription, Genetic*, Glomerulonephritis/*genetics , Hypotrichosis/*genetics , Lymphedema/*genetics , SOXF Transcription Factors/*genetics , Telangiectasis/*genetics, Animals ; COS Cells ; Chlorocebus aethiops ; Disease Models, Animal ; Gene Expression Regulation ; Gene Regulatory Networks ; Genes, Reporter ; Glomerulonephritis/metabolism ; Glomerulonephritis/pathology ; HeLa Cells ; Human Umbilical Vein Endothelial Cells ; Humans ; Hypotrichosis/metabolism ; Hypotrichosis/pathology ; Luciferases/genetics ; Luciferases/metabolism ; Lymphedema/metabolism ; Lymphedema/pathology ; MEF2 Transcription Factors/genetics ; MEF2 Transcription Factors/metabolism ; Mice ; Mutation ; SOXF Transcription Factors/metabolism ; Single Molecule Imaging ; Telangiectasis/metabolism ; Telangiectasis/pathology

SCR Disease Name: Hypotrichosis-Lymphedema-Telangiectasia Syndrome