Autor: "de Coo IFM" - OpacWWW

Skocz do pozycji: 21.

Tytuł:: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Autorzy:: Oegema R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Baillat D; Department of Biochemistry & Molecular Biology, University of Texas Medical Branch, Galveston TX, United States of America.
Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
van Unen LM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Brooks A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Kia SK; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Hoogeboom AJM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Xia Z; Division of Biostatistics, Dan L Duncan Cancer Center, Baylor College of Medicine, Houston, TX, United States of America.; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, United States of America.
Li W; Division of Biostatistics, Dan L Duncan Cancer Center, Baylor College of Medicine, Houston, TX, United States of America.; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, United States of America.
Cesaroni M; The Fels Institute, Temple University School of Medicine, Philadelphia, PA, United States of America.
Lequin MH; Department of Pediatric Radiology, Erasmus MC- Sophia, University Medical Center Rotterdam, The Netherlands.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, United States of America.
de Coo IFM; Department of Neurology, Erasmus MC- Sophia, University Medical Center Rotterdam, The Netherlands.
Verheijen FW; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Kremer A; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, The Netherlands.
van der Spek PJ; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, The Netherlands.
Heijsman D; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, The Netherlands.
Wagner EJ; Department of Biochemistry & Molecular Biology, University of Texas Medical Branch, Galveston TX, United States of America.
Fornerod M; Department of Pediatric Oncology and Biochemistry, Erasmus MC, University Medical Center Rotterdam, The Netherlands.
Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Pokaż więcej
Źródło:: PLoS genetics [PLoS Genet] 2017 May 25; Vol. 13 (5), pp. e1006809. Date of Electronic Publication: 2017 May 25 (Print Publication: 2017).
Typ publikacji:: Journal Article
MeSH Terms:: Gene Deletion*
Mutation, Missense*
Developmental Disabilities/*genetics
Protein Subunits/*genetics
RNA, Messenger/*metabolism
Adult ; Alternative Splicing ; Brain/growth & development ; Brain/metabolism ; Brain/pathology ; Cells, Cultured ; Child ; Developmental Disabilities/diagnosis ; Female ; Fibroblasts/metabolism ; HEK293 Cells ; HeLa Cells ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree ; Protein Subunits/metabolism ; RNA, Messenger/genetics ; Syndrome ; Transcriptome ; Wnt1 Protein

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