SwePub
Tyck till om SwePub Sök här!
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Hultman Christina M)
 

Sökning: WFRF:(Hultman Christina M) > The 22q11.2 region ...

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

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
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
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
visa fler...
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
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
Lehtonen, Leevi (författare)
Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
Bell, Christina (författare)
Department of Cell Biology, Blavatnik Institute of Harvard Medical School, MA, Boston, United States
Singh, Tarjinder (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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
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
Manning, Danielle (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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
Malik, Rhea (författare)
Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
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
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
Beccard, Amanda (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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
Hazelbaker, Dane Z. (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
Zuccaro, Emanuela (författare)
Department of Stem Cell and Regenerative Biology, and the Harvard Institute for Stem Cell Biology, Harvard University, MA, Cambridge, United States
Genovese, Giulio (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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
Neumann, Anna (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
Lilliehook, Christina (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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
Hamalainen, Eija (författare)
Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
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
Hultman, Christina M. (författare)
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
Kähler, Anna K. (författare)
Karolinska Institutet
Paulo, Joao A. (författare)
Department of Cell Biology, Blavatnik Institute of Harvard Medical School, MA, Boston, United States
Ganna, Andrea (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
Madison, Jon (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
Cohen, Bruce (författare)
Department of Psychiatry, McLean Hospital, MA, Belmont, United States
McPhie, Donna (författare)
Department of Psychiatry, McLean Hospital, MA, Belmont, United States
Adolfsson, Rolf (författare)
Umeå universitet,Psykiatri
Perlis, Roy (författare)
Psychiatry Dept., Massachusetts General Hospital, MA, Boston, United States
Dolmetsch, Ricardo (författare)
Novartis Institutes for Biomedical Research, Novartis, MA, Cambridge, United States
Farhi, Samouil (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
McCarroll, Steven (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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
Neale, Ben (författare)
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, MA, Cambridge, United States
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
Harper, Wade (författare)
Department of Cell Biology, Blavatnik Institute of Harvard Medical School, MA, Boston, United States
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
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
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
visa färre...
 (creator_code:org_t)
2022-06-27
2022
Engelska.
Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 13:1
  • Tidskriftsartikel (refereegranskat)
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)

Publikations- och innehållstyp

ref (ämneskategori)
art (ämneskategori)

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy