EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling.
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| Title: | EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling. |
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| Authors: | Ulmke PA; Department of Human Genetics, University of Bochum, Bochum 44801, Germany.; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany., Sakib MS; Department for Systems Medicine and Epigenetics, German Center for Neurodegenerative Diseases (DZNE), Goettingen 37075, Germany.; Evotec SE, Hamburg 22419, Germany., Nguyen DT; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi 122000, Vietnam., Muchamedin A; Department of Human Genetics, University of Bochum, Bochum 44801, Germany., Sokpor G; Department of Human Genetics, University of Bochum, Bochum 44801, Germany., Pham L; Department of Human Genetics, University of Bochum, Bochum 44801, Germany., Xie Y; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany., Abbas E; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany.; Department of Neuro- and Sensory Physiology, University Medical Center Göttingen, Göttingen 37073, Germany., Castro Hernandez R; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany., Narayanan R; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany., Wincent J; Department of Molecular Medicine and Surgery, Karolinska Institute, and Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm 17176, Sweden., Liedén A; Department of Molecular Medicine and Surgery, Karolinska Institute, and Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm 17176, Sweden., Harris E; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Fischer A; Department for Systems Medicine and Epigenetics, German Center for Neurodegenerative Diseases (DZNE), Goettingen 37075, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells' (MBExC), University of Goettingen, Goettingen 37073, Germany.; Department of Psychiatry and Psychotherapy, University Medical Center Goettingen, Goettingen 37075, Germany., Staiger JF; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany., Nguyen HP; Department of Human Genetics, University of Bochum, Bochum 44801, Germany., Tuoc T; Department of Human Genetics, University of Bochum, Bochum 44801, Germany.; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany. |
| Source: | Brain : a journal of neurology [Brain] 2026 Jun 03; Vol. 149 (6), pp. 2072-2090. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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