المؤلفون: Jin SC; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Dong W; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Kundishora AJ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Panchagnula S; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Geisinger, Danville, PA, USA., Furey CG; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.; Department of Neurosurgery, Barrow Neurological Institute, Phoenix, AZ, USA., Allocco AA; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Walker RL; Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Smith H; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Dunbar A; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Conine S; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Lu Q; Department of Biostatistics & Medical Informatics, University of Wisconsin, Madison, WI, USA., Zeng X; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Sierant MC; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Knight JR; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Sullivan W; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Duy PQ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., DeSpenza T; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Reeves BC; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Karimy JK; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Marlier A; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Castaldi C; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Tikhonova IR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Peña HP; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, UK., Broach JR; Institute for Personalized Medicine, The Penn State College of Medicine, Hershey, PA, USA., Kabachelor EM; CURE Children's Hospital of Uganda, Mbale, Uganda., Ssenyonga P; CURE Children's Hospital of Uganda, Mbale, Uganda., Hehnly C; Departments of Neurosurgery, Engineering Science & Mechanics, and Physics; Center for Neural Engineering and Infectious Disease Dynamics, The Pennsylvania State University, University Park, PA, USA., Ge L; Department of Biostatistics & Medical Informatics, University of Wisconsin, Madison, WI, USA., Keren B; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau, Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme', Paris, France., Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, NY, USA., Goto J; Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Mangano FT; Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Johnston JM; Department of Neurosurgery, University of Alabama School of Medicine, Birmingham, AL, USA., Butler WE; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Warf BC; 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., Schiff SJ; Departments of Neurosurgery, Engineering Science & Mechanics, and Physics; Center for Neural Engineering and Infectious Disease Dynamics, The Pennsylvania State University, University Park, PA, USA., Limbrick DD Jr; Department of Neurological Surgery and Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Heuer G; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Jackson EM; Department of Neurosurgery, Johns Hopkins School of Medicine, Baltimore, MD, USA., Iskandar BJ; Department of Neurological Surgery, University of Wisconsin Medical School, Madison, WI, USA., Mane S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Haider S; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, UK., Guclu B; Kartal Dr. Lutfi Kirdar Research and Training Hospital, Istanbul, Turkey., Bayri Y; Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey., Sahin Y; Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey., Duncan CC; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Apuzzo MLJ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., DiLuna ML; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Hoffman EJ; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Sestan N; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA., Ment LR; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Department of Neurology, Yale University School of Medicine, New Haven, CT, USA., Alper SL; Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, MA, USA., Bilguvar K; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Geschwind DH; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Günel M; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Kahle KT; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. kristopher.kahle@yale.edu.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA. kristopher.kahle@yale.edu.; Department of Cellular & Molecular Physiology, Yale University School of Medicine, New Haven, CT, USA. kristopher.kahle@yale.edu.

المصدر: Nature medicine [Nat Med] 2020 Nov; Vol. 26 (11), pp. 1754-1765. Date of Electronic Publication: 2020 Oct 19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Cerebral Ventricles/*metabolism , Hydrocephalus/*genetics , Neurogenesis/*genetics, Brain/diagnostic imaging ; Brain/pathology ; Cerebral Ventricles/diagnostic imaging ; Cerebral Ventricles/pathology ; Exome/genetics ; Female ; Humans ; Hydrocephalus/cerebrospinal fluid ; Hydrocephalus/diagnostic imaging ; Hydrocephalus/pathology ; Male ; Mutation/genetics ; Neural Stem Cells/metabolism ; Neural Stem Cells/pathology ; Neuroglia/metabolism ; Neuroglia/pathology ; Transcription Factors/genetics ; Tripartite Motif Proteins/genetics ; Ubiquitin-Protein Ligases/genetics ; Exome Sequencing

المؤلفون: Duy PQ; Undergraduate Neuroscience Program, Krieger School of Arts & Sciences, Johns Hopkins University, Baltimore, MD.; Section on Light and Circadian Rhythms, National Institute of Mental Health, National Institutes of Health, Bethesda, MD., Hattar S; Section on Light and Circadian Rhythms, National Institute of Mental Health, National Institutes of Health, Bethesda, MD.

المصدر: Journal of biological rhythms [J Biol Rhythms] 2017 Dec; Vol. 32 (6), pp. 621-626. Date of Electronic Publication: 2017 Nov 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sage Publishers Country of Publication: United States NLM ID: 8700115 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4531 (Electronic) Linking ISSN: 07487304 NLM ISO Abbreviation: J Biol Rhythms Subsets: MEDLINE

مواضيع طبية MeSH: Circadian Rhythm* , Neurogenesis* , Photoperiod*, Hippocampus/*physiology , Sleep Deprivation/*physiopathology, Animals ; Lighting/adverse effects ; Mice

المؤلفون: Hao le T; Department of Neuroscience, The Ohio State University, Columbus, OH 43210, USA., Duy PQ, Jontes JD, Wolman M, Granato M, Beattie CE

المصدر: Human molecular genetics [Hum Mol Genet] 2013 Jul 01; Vol. 22 (13), pp. 2612-25. Date of Electronic Publication: 2013 Mar 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Motor Neurons/*metabolism , Neurogenesis/*genetics , Survival of Motor Neuron 1 Protein/*genetics , Survival of Motor Neuron 1 Protein/*metabolism, Animals ; Animals, Genetically Modified ; Axons/metabolism ; Axons/pathology ; Disease Models, Animal ; Motor Activity/genetics ; Motor Neurons/pathology ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/metabolism ; Muscular Atrophy, Spinal/mortality ; Mutation ; Zebrafish

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المؤلفون: William J. Sullivan, Bermans J. Iskandar, Yasar Bayri, James R. Knight, James M. Johnston, Michael L.J. Apuzzo, Kristopher T. Kahle, Boyang Li, Andrew T. Timberlake, Sheng Chih Jin, Steven J. Schiff, Shreyas Panchagnula, Rebecca L. Walker, Shozeb Haider, Li Ge, Daniel H. Geschwind, Hannah Smith, Richard P. Lifton, Seth L. Alper, Carol Nelson-Williams, Boris Keren, Christine Hehnly, Arnaud Marlier, Bulent Guclu, Laura R. Ment, Ellen J. Hoffman, Francesco T. Mangano, Xue Zeng, Edith Mbabazi Kabachelor, Kaya Bilguvar, August A Allocco, Ashley Dunbar, James R. Broach, Benjamin C. Warf, William E. Butler, Helena Perez Pena, Sierra B Conine, David D. Limbrick, Qiongshi Lu, Edward R. Smith, Jason K. Karimy, Christopher Castaldi, Eric M. Jackson, Yener Sahin, Murat Gunel, Adam J. Kundishora, Charles C. Duncan, Michael L. DiLuna, Shrikant Mane, Michael C. Sierant, Gregory G. Heuer, June Goto, Charuta G. Furey, Andres Moreno-De-Luca, Peter Ssenyonga, Weilai Dong, Nenad Sestan, Phan Q. Duy, Benjamin C. Reeves, Tyrone DeSpenza, Irina Tikhonova

المساهمون: Jin, Sheng Chih, Dong, Weilai, Kundishora, Adam J., Panchagnula, Shreyas, Moreno-De-Luca, Andres, Furey, Charuta G., Allocco, August A., Walker, Rebecca L., Nelson-Williams, Carol, Smith, Hannah, Dunbar, Ashley, Conine, Sierra, Lu, Qiongshi, Zeng, Xue, Sierant, Michael C., Knight, James R., Sullivan, William, Duy, Phan Q., DeSpenza, Tyrone, Reeves, Benjamin C., Karimy, Jason K., Marlier, Arnaud, Castaldi, Christopher, Tikhonova, Irina R., Li, Boyang, Pena, Helena Perez, Broach, James R., Kabachelor, Edith M., Ssenyonga, Peter, Hehnly, Christine, Ge, Li, Keren, Boris, Timberlake, Andrew T., Goto, June, Mangano, Francesco T., Johnston, James M., Butler, William E., Warf, Benjamin C., Smith, Edward R., Schiff, Steven J., Limbrick, David D., Jr., Heuer, Gregory, Jackson, Eric M., Iskandar, Bermans J., Mane, Shrikant, Haider, Shozeb, Guclu, Bulent, Bayri, Yasar, Sahin, Yener, Duncan, Charles C., Apuzzo, Michael L. J., DiLuna, Michael L., Hoffman, Ellen J., Sestan, Nenad, Ment, Laura R., Alper, Seth L., Bilguvar, Kaya, Geschwind, Daniel H., Gunel, Murat, Lifton, Richard P., Kahle, Kristopher T.

المصدر: Nat Med

مصطلحات موضوعية: EXPRESSION, 0301 basic medicine, Male, PTEN, Cell type, Neurogenesis, Ubiquitin-Protein Ligases, CHILDREN, Disease, VENTRICULAR ZONE DISRUPTION, Bioinformatics, General Biochemistry, Genetics and Molecular Biology, Article, COWDEN-SYNDROME, Cerebral Ventricles, PATHWAY, Tripartite Motif Proteins, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, RARE, Neural Stem Cells, Pregnancy, Exome Sequencing, Medicine, Humans, Genetic Predisposition to Disease, Exome, AUTISM, Exome sequencing, Gliogenesis, SPECTRUM, Fetus, business.industry, Brain, General Medicine, medicine.disease, Neural stem cell, DE-NOVO MUTATION, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Female, business, Neuroglia, Ventriculomegaly, Transcription Factors, Hydrocephalus

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa5ffd2d8f3b89a9eace21cef26b4737
https://europepmc.org/articles/PMC7871900/