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The 22q11.2 region ...
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia
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- Nehme, Ralda (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Pietiläinen, Olli (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Artomov, Mykyta (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States
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- Tegtmeyer, Matthew (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Valakh, Vera (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Lehtonen, Leevi (författare)
- Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
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- Bell, Christina (författare)
- Department of Cell Biology, Blavatnik Institute of Harvard Medical School, MA, Boston, United States
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- Singh, Tarjinder (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Trehan, Aditi (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Sherwood, John (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Manning, Danielle (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Peirent, Emily (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Malik, Rhea (författare)
- Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Guss, Ellen J. (författare)
- Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Hawes, Derek (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Beccard, Amanda (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Bara, Anne M. (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Hazelbaker, Dane Z. (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Zuccaro, Emanuela (författare)
- Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Genovese, Giulio (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Loboda, Alexander A. (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; ITMO University, St. Petersburg, Russian Federation; Almazov National Medical Research Centre, Saint-Petersburg, Russian Federation
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- Neumann, Anna (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Lilliehook, Christina (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Kuismin, Outi (författare)
- Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, MA, Boston, United States; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland
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- Hamalainen, Eija (författare)
- Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
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- Kurki, Mitja (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, MA, Boston, United States
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- Hultman, Christina M. (författare)
- Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
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- Kähler, Anna K. (författare)
- Karolinska Institutet
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- Paulo, Joao A. (författare)
- Department of Cell Biology, Blavatnik Institute of Harvard Medical School, MA, Boston, United States
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- Ganna, Andrea (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Madison, Jon (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Cohen, Bruce (författare)
- Department of Psychiatry, McLean Hospital, MA, Belmont, United States
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- McPhie, Donna (författare)
- Department of Psychiatry, McLean Hospital, MA, Belmont, United States
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- Adolfsson, Rolf (författare)
- Umeå universitet,Psykiatri
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- Perlis, Roy (författare)
- Psychiatry Dept., Massachusetts General Hospital, MA, Boston, United States
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- Dolmetsch, Ricardo (författare)
- Novartis Institutes for Biomedical Research, Novartis, MA, Cambridge, United States
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- Farhi, Samouil (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- McCarroll, Steven (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Hyman, Steven (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Neale, Ben (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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- Barrett, Lindy E. (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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- Harper, Wade (författare)
- Department of Cell Biology, Blavatnik Institute of Harvard Medical School, MA, Boston, United States
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- Palotie, Aarno (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, MA, Boston, United States; Department of Neurology, Massachusetts General Hospital, MA, Boston, United States
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- Daly, Mark (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, MA, Boston, United States; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, MA, Boston, United States; Department of Neurology, Massachusetts General Hospital, MA, Boston, United States
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- Eggan, Kevin (författare)
- Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States; Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States; BioMarin Pharmaceutical, CA, San Rafael, United States
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(creator_code:org_t)
- 2022-06-27
- 2022
- Engelska.
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 13:1
- Relaterad länk:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- It is unclear how the 22q11.2 deletion predisposes to psychiatric disease. To study this, we generated induced pluripotent stem cells from deletion carriers and controls and utilized CRISPR/Cas9 to introduce the heterozygous deletion into a control cell line. Here, we show that upon differentiation into neural progenitor cells, the deletion acted in trans to alter the abundance of transcripts associated with risk for neurodevelopmental disorders including autism. In excitatory neurons, altered transcripts encoded presynaptic factors and were associated with genetic risk for schizophrenia, including common and rare variants. To understand how the deletion contributed to these changes, we defined the minimal protein-protein interaction network that best explains gene expression alterations. We found that many genes in 22q11.2 interact in presynaptic, proteasome, and JUN/FOS transcriptional pathways. Our findings suggest that the 22q11.2 deletion impacts genes that may converge with psychiatric risk loci to influence disease manifestation in each deletion carrier.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Nehme, Ralda
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Pietiläinen, Oll ...
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Artomov, Mykyta
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Tegtmeyer, Matth ...
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Valakh, Vera
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Lehtonen, Leevi
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visa fler...
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Bell, Christina
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Singh, Tarjinder
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Trehan, Aditi
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Sherwood, John
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Manning, Daniell ...
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Peirent, Emily
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Malik, Rhea
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Guss, Ellen J.
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Hawes, Derek
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Beccard, Amanda
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Bara, Anne M.
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Hazelbaker, Dane ...
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Zuccaro, Emanuel ...
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Genovese, Giulio
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Loboda, Alexande ...
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Neumann, Anna
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Lilliehook, Chri ...
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Kuismin, Outi
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Hamalainen, Eija
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Kurki, Mitja
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Hultman, Christi ...
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Kähler, Anna K.
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Paulo, Joao A.
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Ganna, Andrea
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Madison, Jon
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Cohen, Bruce
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McPhie, Donna
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Adolfsson, Rolf
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Perlis, Roy
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Dolmetsch, Ricar ...
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Farhi, Samouil
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McCarroll, Steve ...
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Hyman, Steven
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Neale, Ben
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Barrett, Lindy E ...
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Harper, Wade
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Palotie, Aarno
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Daly, Mark
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Eggan, Kevin
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
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- Av lärosätet
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Umeå universitet
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Karolinska Institutet