Genetics and molecular pathophysiology of normal pressure hydrocephalus.

Autor: Mehta NH; 1Department of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts., Maury EA; 1Department of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts.; 2Harvard/MIT MD-PhD Program, Harvard Medical School, Boston, Massachusetts.; 3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Buller Z; 1Department of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts., Duy PQ; Departments of4Neurosurgery and.; 5Neuroscience, University of Virginia School of Medicine, Charlottesville, Virginia., Fortes C; 1Department of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts., Alper SL; 6Department of Medicine, Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.; 10Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Erson-Omay EZ; 7Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut., Kahle KT; 1Department of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts.; 8Department of Neurosurgery, Boston Children's Hospital, Boston, Massachusetts.; 9Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; 10Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; 11Developmental Brain & CSF Disorders Program, Massachusetts General Hospital, Boston, Massachusetts; and.; 12Program in Neuroscience, Harvard University, Cambridge, Massachusetts.

Publikováno v: Journal of neurosurgery [J Neurosurg] 2024 Aug 23, pp. 1-7. Date of Electronic Publication: 2024 Aug 23.

Application of novel PACS-based informatics platform to identify imaging based predictors of CDKN2A allelic status in glioblastomas.

Autor: Tillmanns N; Brain Tumor Research Group, Department of Radiology and Biomedical Imaging, Yale School of Medicine, 333 Cedar Street, PO Box 208042, New Haven, CT, 06520, USA.; Department of Diagnostic and Interventional Radiology, Medical Faculty, University Dusseldorf, 40225, Dusseldorf, Germany., Lost J; Brain Tumor Research Group, Department of Radiology and Biomedical Imaging, Yale School of Medicine, 333 Cedar Street, PO Box 208042, New Haven, CT, 06520, USA., Tabor J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Vasandani S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Vetsa S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Marianayagam N; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Yalcin K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Erson-Omay EZ; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., von Reppert M; Brain Tumor Research Group, Department of Radiology and Biomedical Imaging, Yale School of Medicine, 333 Cedar Street, PO Box 208042, New Haven, CT, 06520, USA., Jekel L; Brain Tumor Research Group, Department of Radiology and Biomedical Imaging, Yale School of Medicine, 333 Cedar Street, PO Box 208042, New Haven, CT, 06520, USA., Merkaj S; Brain Tumor Research Group, Department of Radiology and Biomedical Imaging, Yale School of Medicine, 333 Cedar Street, PO Box 208042, New Haven, CT, 06520, USA., Ramakrishnan D; Brain Tumor Research Group, Department of Radiology and Biomedical Imaging, Yale School of Medicine, 333 Cedar Street, PO Box 208042, New Haven, CT, 06520, USA., Avesta A; Department of Radiation Oncology, Yale School of Medicine, 333 Cedar Street, PO Box 208042, New Haven, CT, 06520, USA., de Oliveira Santo ID; Brain Tumor Research Group, Department of Radiology and Biomedical Imaging, Yale School of Medicine, 333 Cedar Street, PO Box 208042, New Haven, CT, 06520, USA., Jin L; R&D, Sema4, 333 Ludlow Street, North Tower, 8th Floor, Stamford, CT, 06902, USA., Huttner A; Department of Pathology, Yale School of Medicine, New Haven, CT, USA., Bousabarah K; Visage Imaging, GmbH., Lepsiusstraße 70, 12163, Berlin, Germany., Ikuta I; Department of Radiology, Mayo Clinic Arizona, 5711 E Mayo Blvd, Phoenix, AZ, 85054, USA., Lin M; Brain Tumor Research Group, Department of Radiology and Biomedical Imaging, Yale School of Medicine, 333 Cedar Street, PO Box 208042, New Haven, CT, 06520, USA.; Visage Imaging, Inc., 12625 High Bluff Dr, Suite 205, San Diego, CA, 92130, USA., Aneja S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Turowski B; Department of Diagnostic and Interventional Radiology, Medical Faculty, University Dusseldorf, 40225, Dusseldorf, Germany., Aboian M; Brain Tumor Research Group, Department of Radiology and Biomedical Imaging, Yale School of Medicine, 333 Cedar Street, PO Box 208042, New Haven, CT, 06520, USA. mariam.aboian@yale.edu.; New Haven, USA. mariam.aboian@yale.edu., Moliterno J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Publikováno v: Scientific reports [Sci Rep] 2023 Dec 22; Vol. 13 (1), pp. 22942. Date of Electronic Publication: 2023 Dec 22.

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.

Autor: Zhao S; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Mekbib KY; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., van der Ent MA; Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA., Allington G; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pathology, Yale School of Medicine, New Haven, CT, USA., Prendergast A; Yale Zebrafish Research Core, Yale School of Medicine, New Haven, CT, USA., Chau JE; Department of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT, USA., Smith H; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Shohfi J; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Ocken J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Duran D; Department of Neurosurgery, University of Mississippi Medical Center, Jackson, MS, USA., Furey CG; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Neurosurgery, Barrow Neurological Institute, Phoenix, AZ, USA.; Ivy Brain Tumor Center, Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ, USA., Hao LT; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Duy PQ; Department of Neurosurgery, University of Virginia School of Medicine, Charlottesville, VA, USA., Reeves BC; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Zhang J; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Nelson-Williams C; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Chen D; Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Nottoli T; Yale Genome Editing Center, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT, USA., Bai S; Yale Genome Editing Center, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT, USA., Rolle M; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Zeng X; Department of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Dong W; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Fu PY; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Wang YC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Mane S; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Piwowarczyk P; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Fehnel KP; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., See AP; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Iskandar BJ; Department of Neurological Surgery, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Aagaard-Kienitz B; Department of Neurological Surgery, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Moyer QJ; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Dennis E; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Kiziltug E; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Kundishora AJ; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., DeSpenza T Jr; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Greenberg ABW; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Kidanemariam SM; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada., Hale AT; Department of Neurosurgery, University of Alabama School of Medicine, Birmingham, AL, USA., Johnston JM; Department of Neurosurgery, University of Alabama School of Medicine, Birmingham, AL, USA., Jackson EM; Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Storm PB; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lang SS; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Butler WE; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Carter BS; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Chapman P; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Stapleton CJ; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Patel AB; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Rodesch G; Service de Neuroradiologie Diagnostique et Thérapeutique, Hôpital Foch, Suresnes, France.; Department of Interventional Neuroradiology, Hôpital Fondation A. de Rothschild, Paris, France., Smajda S; Department of Interventional Neuroradiology, Hôpital Fondation A. de Rothschild, Paris, France., Berenstein A; Department of Neurosurgery, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Barak T; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Erson-Omay EZ; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Zhao H; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Moreno-De-Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, PA, USA., Proctor MR; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Smith ER; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Orbach DB; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurointerventional Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Alper SL; Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, MA, USA., Nicoli S; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Pharmacology, Yale School of Medicine, New Haven, CT, USA.; Yale Cardiovascular Research Center, Department of Internal Medicine, Section of Cardiology, Yale School of Medicine, New Haven, CT, USA., Boggon TJ; Department of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT, USA.; Department of Pharmacology, Yale School of Medicine, New Haven, CT, USA., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Gunel M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., King PD; Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA. kingp@umich.edu., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA. jin810@wustl.edu.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA. jin810@wustl.edu., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Kahle.Kristopher@mgh.harvard.edu.; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA. Kahle.Kristopher@mgh.harvard.edu.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US. Kahle.Kristopher@mgh.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Kahle.Kristopher@mgh.harvard.edu.

Publikováno v: Nature communications [Nat Commun] 2023 Nov 17; Vol. 14 (1), pp. 7452. Date of Electronic Publication: 2023 Nov 17.

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.

Autor: Khoshkhoo S; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Wang Y; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts., Chahine Y; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts., Erson-Omay EZ; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut., Robert SM; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut., Kiziltug E; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut., Damisah EC; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut., Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut., Zhu G; Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China., Kong W; Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China., Huang AY; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts., Stronge E; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts., Phillips HW; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurosurgery, David Geffen School of Medicine, University of California, Los Angeles., Chhouk BH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts., Bizzotto S; Sorbonne University, Paris Brain Institute (ICM), National Institute of Health and Medical Research (INSERM), National Center for Scientific Research (CNRS), Paris, France., Chen MH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts., Adikari TN; Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Australia., Ye Z; Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Australia., Witkowski T; Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Australia., Lai D; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill., Lee N; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts., Lokan J; Department of Anatomical Pathology, Austin Health, Heidelberg, Australia., Scheffer IE; Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Australia.; Murdoch Children's Research Institute, Parkville, Australia.; Florey Institute of Neuroscience and Mental Health, Heidelberg, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Australia.; Bladin-Berkovic Comprehensive Epilepsy Program, Department of Neurology, Austin Health, Heidelberg, Australia., Berkovic SF; Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Australia.; Bladin-Berkovic Comprehensive Epilepsy Program, Department of Neurology, Austin Health, Heidelberg, Australia., Haider S; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, United Kingdom., Hildebrand MS; Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Australia.; Murdoch Children's Research Institute, Parkville, Australia., Yang E; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Gunel M; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York., Richardson RM; Department of Neurosurgery, Massachusetts General Hospital, Boston., Blümcke I; Department of Neuropathology, University Hospitals Erlangen, Erlangen, Germany.; Epilepsy Center, Cleveland Clinic, Cleveland, Ohio., Alexandrescu S; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Huttner A; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut., Heinzen EL; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill.; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill., Zhu J; Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China., Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., DeLanerolle N; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut., Spencer DD; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut., Lee EA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurology and Pediatrics, Harvard Medical School, Boston, Massachusetts.; Allen Discovery Center for Human Brain Evolution, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston, Massachusetts., Kahle KT; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York.; Department of Neurosurgery, Boston Children's Hospital, Boston, Massachusetts.

Publikováno v: JAMA neurology [JAMA Neurol] 2023 Jun 01; Vol. 80 (6), pp. 578-587.

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.

Autor: Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Le HT, Duy PQ, Reeves BC, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu PY, Wang YC, Mane S, Piwowarczyk P, Fehnel KP, See AP, Iskandar BJ, Aagaard-Kienitz B, Kundishora AJ, DeSpenza T, Greenberg ABW, Kidanemariam SM, Hale AT, Johnston JM, Jackson EM, Storm PB, Lang SS, Butler WE, Carter BS, Chapman P, Stapleton CJ, Patel AB, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay EZ, Zhao H, Moreno-De-Luca A, Proctor MR, Smith ER, Orbach DB, Alper SL, Nicoli S, Boggon TJ, Lifton RP, Gunel M, King PD, Jin SC, Kahle KT

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Mar 21. Date of Electronic Publication: 2023 Mar 21.