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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.
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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  Data: EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling.
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  Data: <searchLink fieldCode="AU" term="%22Ulmke+PA%22">Ulmke PA</searchLink>; Department of Human Genetics, University of Bochum, Bochum 44801, Germany.; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany.<br /><searchLink fieldCode="AU" term="%22Sakib+MS%22">Sakib MS</searchLink>; Department for Systems Medicine and Epigenetics, German Center for Neurodegenerative Diseases (DZNE), Goettingen 37075, Germany.; Evotec SE, Hamburg 22419, Germany.<br /><searchLink fieldCode="AU" term="%22Nguyen+DT%22">Nguyen DT</searchLink>; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi 122000, Vietnam.<br /><searchLink fieldCode="AU" term="%22Muchamedin+A%22">Muchamedin A</searchLink>; Department of Human Genetics, University of Bochum, Bochum 44801, Germany.<br /><searchLink fieldCode="AU" term="%22Sokpor+G%22">Sokpor G</searchLink>; Department of Human Genetics, University of Bochum, Bochum 44801, Germany.<br /><searchLink fieldCode="AU" term="%22Pham+L%22">Pham L</searchLink>; Department of Human Genetics, University of Bochum, Bochum 44801, Germany.<br /><searchLink fieldCode="AU" term="%22Xie+Y%22">Xie Y</searchLink>; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany.<br /><searchLink fieldCode="AU" term="%22Abbas+E%22">Abbas E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Castro+Hernandez+R%22">Castro Hernandez R</searchLink>; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany.<br /><searchLink fieldCode="AU" term="%22Narayanan+R%22">Narayanan R</searchLink>; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany.<br /><searchLink fieldCode="AU" term="%22Wincent+J%22">Wincent J</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institute, and Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm 17176, Sweden.<br /><searchLink fieldCode="AU" term="%22Liedén+A%22">Liedén A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institute, and Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm 17176, Sweden.<br /><searchLink fieldCode="AU" term="%22Harris+E%22">Harris E</searchLink>; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK.<br /><searchLink fieldCode="AU" term="%22Joss+S%22">Joss S</searchLink>; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.<br /><searchLink fieldCode="AU" term="%22Fischer+A%22">Fischer A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Staiger+JF%22">Staiger JF</searchLink>; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany.<br /><searchLink fieldCode="AU" term="%22Nguyen+HP%22">Nguyen HP</searchLink>; Department of Human Genetics, University of Bochum, Bochum 44801, Germany.<br /><searchLink fieldCode="AU" term="%22Tuoc+T%22">Tuoc T</searchLink>; Department of Human Genetics, University of Bochum, Bochum 44801, Germany.; Institute for Neuroanatomy, University Medical Center, Georg-August-University Goettingen, Goettingen 37075, Germany.
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        Value: 10.1093/brain/awaf405
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