نتائج البحث - "Vijay S. Ganesh"

21

The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles

المساهمون: Molecular Neuroscience (SILS, FNWI), Equipe Direction scientifique, Sciences et Technologies de la Musique et du Son (STMS), Institut de Recherche et Coordination Acoustique/Musique (IRCAM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche et Coordination Acoustique/Musique (IRCAM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Département Sciences Analytiques et Interactions Ioniques et Biomoléculaires (DSA-IPHC), Institut Pluridisciplinaire Hubert Curien (IPHC), Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Computer Science and Artificial Intelligence Laboratory [Cambridge] (CSAIL), Massachusetts Institute of Technology (MIT), McMaster Univ, Med Phys & Appl Radiat Sci Dept, Hamilton, ON L8S 4K1, Canada, Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Harvard Medical School [Boston] (HMS), Center for Biomolecular Science and Engineering, University of California [Santa Cruz] (UCSC), University of California-University of California

المصدر: Cell reports, vol 24, iss 4
Cell reports
Cell Reports, 24(4), 973-986. Cell Press
Cell Reports
Cell Reports, Elsevier Inc, 2018, 24 (4), pp.973-986.e8. ⟨10.1016/j.celrep.2018.06.100⟩

مصطلحات موضوعية: 0301 basic medicine, [SDV]Life Sciences [q-bio], Medical Physiology, Vesicular Transport Proteins, Aucun, Mice, 0302 clinical medicine, microcephaly, Sonic hedgehog, Pediatric, biology, neurodevelopment, Chemistry, Brain, Cell biology, Stem Cell Research - Nonembryonic - Non-Human, Adult, Endosome, 1.1 Normal biological development and functioning, Pontocerebellar hypoplasia, CHMP1A, Sciences du Vivant [q-bio]/Médecine humaine et pathologie, Article, General Biochemistry, Genetics and Molecular Biology, ESCRT, multivesicular body, 03 medical and health sciences, Extracellular Vesicles, sonic hedgehog, Rare Diseases, Clinical Research, Underpinning research, medicine, Animals, Humans, Secretion, Hedgehog Proteins, Progenitor, Endosomal Sorting Complexes Required for Transport, Infant, Newborn, Neurosciences, Infant, medicine.disease, Newborn, Stem Cell Research, Brain Disorders, 030104 developmental biology, Choroid Plexus, biology.protein, NIH 3T3 Cells, Congenital Structural Anomalies, Biochemistry and Cell Biology, 030217 neurology & neurosurgery, RAB18, Biogenesis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47d13408544f44c62adec62a2110dd84Test

22

دورية أكاديمية

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

المؤلفون: Jun Shen, Edward C Gilmore, Christine A Marshall, Mary Haddadin, John J Reynolds, Wafaa Eyaid, Adria Bodell, Brenda Barry, Danielle Gleason, Kathryn Allen, Vijay S Ganesh, Bernard S Chang, Arthur Grix, R Sean Hill, Meral Topcu, Keith Caldecott, A James Barkovich, Christopher A Walsh

مصطلحات موضوعية: Uncategorised value

العلاقة: 10779/uos.23331311.v1; https://figshare.com/articles/journal_contribution/Mutations_in_PNKP_cause_microcephaly_seizures_and_defects_in_DNA_repair/23331311Test

الإتاحة: https://figshare.com/articles/journal_contribution/Mutations_in_PNKP_cause_microcephaly_seizures_and_defects_in_DNA_repair/23331311Test

View record in BASE

23

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

المصدر: Nature genetics
Nature genetics, vol 44, iss 11

مصطلحات موضوعية: Morpholino, Genetic Linkage, Lymphoblastoid Cell, Protein Expression, Vesicular Transport Proteins, Zebra Fish, Regenerative Medicine, Medical and Health Sciences, Mice, Immunoreactivity, 0302 clinical medicine, Neural Stem Cells, Stem Cell Research - Nonembryonic - Human, Cerebellum, Developmental, Danio Rerio, Zebrafish, Ink4a Protein, Pediatric, Neurons, 0303 health sciences, Gene knockdown, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Gene Expression Regulation, Developmental, Single Nucleotide, Multivesicular Body, Biological Sciences, Immunohistochemistry, Animal Cell, Chromatin, Brain Malformation, Cerebellar cortex, Microcephaly, Linkage Analysis, BMI1 Protein, Stem Cell Research - Nonembryonic - Non-Human, Stem cell, Charged Multivesicular Body Protein 1a, Genetic Association, Chromatin Immunoprecipitation, Cell Nucleus Matrix, Biology, Polymorphism, Single Nucleotide, Article, Unclassified Drug, 03 medical and health sciences, Cerebellar Cortex, Rare Diseases, Stem Cell, Genetics, Animals, Humans, Controlled Study, Polymorphism, Cyclin-Dependent Kinase Inhibitor p16, Mitogen-Activated Protein Kinase 7, Brain Cortex, 030304 developmental biology, Cell Proliferation, Nuclear Magnetic Resonance Imaging, Stem Cell Research - Induced Pluripotent Stem Cell, Endosomal Sorting Complexes Required for Transport, HEK 293 cells, Nucleotide Sequence, Brain Development, Stem Cell Research, biology.organism_classification, Molecular biology, Hypoplasia, purl.org/pe-repo/ocde/ford#3.01.02 [https], HEK293 Cells, Gene Expression Regulation, Polymorphism Single Nucleotide, Mutation, NIH 3T3 Cells, Congenital Structural Anomalies, Chromatin immunoprecipitation, Neuroepithelium, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04d2761504b2f6ce6ccaff761fe7d458Test
https://pubmed.ncbi.nlm.nih.gov/23023333Test

24

FLNA genomic rearrangements cause periventricular nodular heterotopia

المؤلفون: C. du Souich, M.M. Nezarati, L. Dupuis, K.R. Clapham, C. van Karnebeek, Timothy W. Yu, Vijay S. Ganesh, Davide Mei, Renzo Guerrini, Elena Parrini, Christopher A. Walsh, Y. Chan, Brenda J. Barry, B. Funalot

المساهمون: Other departments

المصدر: Neurology, 78(4), 269-278. Lippincott Williams and Wilkins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50c433df0e3faf455878b3da7debb0fTest
https://europepmc.org/articles/PMC3280053Test/

25

Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury

المؤلفون: Jonathan D. Chesnut, Soojung Shin, Luca Steardo, Teresa Iuvone, Vijay S. Ganesh, Giuseppe Esposito, Jaime Imitola, Jonathan L. Hecht, Jie Lu, Rebecca D. Folkerth, Volney L. Sheen, Caterina Scuderi, Daniele De Filippis

المساهمون: G., Esposito, J., Imitola, J., Lu, DE FILIPPIS, Daniele, C., Scuderi, V. S., Ganesh, R., Folkerth, J., Hecht, S., Shin, Iuvone, Teresa, J., Chesnut, L., Steardo, V., Sheen

مصطلحات موضوعية: Pluripotent Stem Cells, Programmed cell death, Chromosomes, Human, Pair 21, Down syndrome, Apoptosis, S100 Calcium Binding Protein beta Subunit, Biology, Transfection, human Down syndrome neural progenitors, S100B PROTEIN, aquaporin 4, Cell Line, Downregulation and upregulation, Gene expression, Genetics, Transcriptional regulation, Amyloid precursor protein, Humans, Nerve Growth Factors, RNA, Small Interfering, Molecular Biology, Embryonic Stem Cells, Genetics (clinical), DNA Primers, Oligonucleotide Array Sequence Analysis, Neurons, Base Sequence, Gene Expression Profiling, S100 Proteins, glial-derived S100B protein, General Medicine, Molecular biology, aquaporin, Oxidative Stress, Aquaporin 4, Case-Control Studies, biology.protein, Reactive Oxygen Species, Chromosome 21, Functional genomics