Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis

Autor: Qian, Xuyu, DeGennaro, Ellen M., Talukdar, Maya, Akula, Shyam K., Lai, Abbe, Shao, Diane D., Gonzalez, Dilenny, Marciano, Jack H., Smith, Richard S., Hylton, Norma K., Yang, Edward, Bazan, J. Fernando, Barrett, Lee, Yeh, Rebecca C., Hill, R. Sean, Beck, Samantha G., Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer E., Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall C., Argilli, Emanuela, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish S., Barnett, Christopher P., Arts, Peer, Sherr, Elliott H., Lupski, James R., Walsh, Christopher A.

Publikováno v: In Developmental Cell 24 October 2022 57(20):2381-2396

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Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia.

Autor: Huang AY; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Zhou Z; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Talukdar M; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard-MIT MD/PhD Program, Boston, MA, USA., Miller MB; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Neuropathology, Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA., Chhouk B; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA., Enyenihi L; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard-MIT MD/PhD Program, Boston, MA, USA., Rosen I; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA., Stronge E; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard-MIT MD/PhD Program, Boston, MA, USA., Zhao B; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kim D; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Otorhinolaryngology, Severance Hospital, Yonsei University Health System, Yonsei University College of Medicine, Seoul, South Korea., Choi J; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Khoshkhoo S; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA., Kim J; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea., Ganz J; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Travaglini K; Allen Institute for Brain Science, Seattle, WA, USA., Gabitto M; Allen Institute for Brain Science, Seattle, WA, USA., Hodge R; Allen Institute for Brain Science, Seattle, WA, USA., Kaplan E; Allen Institute for Brain Science, Seattle, WA, USA., Lein E; Allen Institute for Brain Science, Seattle, WA, USA., De Jager PL; Center for Translational and Computational Neuroimmunology, Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, NY, USA., Bennett DA; Rush Alzheimer's Disease Center, Rush University Medical College, Chicago, IL, USA., Lee EA; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Walsh CA; Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Boston, MA USA.; Departments of Neurology, Harvard Medical School, Boston, MA, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jan 04. Date of Electronic Publication: 2024 Jan 04.