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    Wyświetlanie 1-4 z 4
    Tytuł:
    Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
    Autorzy:
    Calame DG; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Herman I; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, 13110, Kuwait.
    Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Mehta VP; Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Mohila CA; Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Abid F; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.
    Lotze TE; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.
    Pehlivan D; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Adesina AM; Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, 77030, USA.
    Lupski JR; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
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    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 Oct; Vol. 8 (10), pp. 2052-2058. Date of Electronic Publication: 2021 Sep 15.
    Typ publikacji:
    Case Reports; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Membrane Proteins/*genetics
    Membrane Proteins/*metabolism
    Muscular Dystrophy, Emery-Dreifuss/*diagnosis
    Nuclear Proteins/*genetics
    Nuclear Proteins/*metabolism
    Adult ; Humans ; Male ; Muscle, Skeletal/metabolism ; Muscular Dystrophy, Emery-Dreifuss/genetics ; Muscular Dystrophy, Emery-Dreifuss/metabolism ; Exome Sequencing ; Young Adult
    Raport
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Cooperative p16 and p21 action protects female astrocytes from transformation.
    Autorzy:
    Kfoury N; Department of Pediatrics, Washington University School of Medicine, Campus Box 8208, 660 South Euclid Ave, St Louis, MO, 63110, USA.
    Sun T; Department of Pediatrics, Washington University School of Medicine, Campus Box 8208, 660 South Euclid Ave, St Louis, MO, 63110, USA.
    Yu K; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA.
    Rockwell N; Department of Pediatrics, Washington University School of Medicine, Campus Box 8208, 660 South Euclid Ave, St Louis, MO, 63110, USA.
    Tinkum KL; Department of Pediatrics, Washington University School of Medicine, Campus Box 8208, 660 South Euclid Ave, St Louis, MO, 63110, USA.
    Qi Z; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.
    Warrington NM; Department of Pediatrics, Washington University School of Medicine, Campus Box 8208, 660 South Euclid Ave, St Louis, MO, 63110, USA.
    McDonald P; High Throughput Screening Laboratory, University of Kansas, Lawrence, Kansas, USA.
    Roy A; High Throughput Screening Laboratory, University of Kansas, Lawrence, Kansas, USA.; University of Kansas Cancer Center, University of Kansas Medical Center, Kansas City, Kansas, USA.
    Weir SJ; University of Kansas Cancer Center, University of Kansas Medical Center, Kansas City, Kansas, USA.; Institute for Advancing Medical Innovation, University of Kansas Medical Center, Kansas City, Kansas, USA.
    Mohila CA; Department of Pathology, Texas Children's Hospital, Houston, TX, USA.
    Deneen B; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Neurological Research Institute at Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA.
    Rubin JB; Department of Pediatrics, Washington University School of Medicine, Campus Box 8208, 660 South Euclid Ave, St Louis, MO, 63110, USA. rubin_.; Department of Neuroscience, Washington University School of Medicine, St Louis, USA. rubin_.
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    Źródło:
    Acta neuropathologica communications [Acta Neuropathol Commun] 2018 Feb 20; Vol. 6 (1), pp. 12. Date of Electronic Publication: 2018 Feb 20.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Sex Characteristics*
    Astrocytes/*metabolism
    Cell Transformation, Neoplastic/*genetics
    Cyclin-Dependent Kinase Inhibitor p16/*metabolism
    Cyclin-Dependent Kinase Inhibitor p21/*metabolism
    Animals ; Astrocytes/drug effects ; Cell Cycle/drug effects ; Cell Cycle/genetics ; Cell Survival/drug effects ; Cell Survival/genetics ; Cell Transformation, Neoplastic/drug effects ; Cell Transformation, Neoplastic/metabolism ; Culture Media, Serum-Free/pharmacology ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Cyclin-Dependent Kinase Inhibitor p21/genetics ; Cyclin-Dependent Kinase Inhibitor p27/genetics ; Cyclin-Dependent Kinase Inhibitor p27/metabolism ; Dose-Response Relationship, Drug ; Embryo, Mammalian ; Etoposide/pharmacology ; Female ; Flow Cytometry ; Gene Expression Regulation, Neoplastic/drug effects ; Gene Expression Regulation, Neoplastic/genetics ; Glial Fibrillary Acidic Protein/metabolism ; Glioblastoma/genetics ; Glioblastoma/metabolism ; Glioblastoma/physiopathology ; Karyotyping ; Male ; Mice ; Neurofibromin 1/deficiency ; Neurofibromin 1/genetics ; Phosphorylation ; Piperazines/pharmacology ; Protein Kinase Inhibitors/pharmacology ; Pyridines/pharmacology ; RNA, Messenger/metabolism ; Retinoblastoma Protein/metabolism ; Serum/metabolism ; Transfection ; Tumor Cells, Cultured
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Chronic nicotine exposure during adolescence differentially influences calcium-binding proteins in rat anterior cingulate cortex.
    Autorzy:
    Liu JJ; Department of Neurobiology and Anatomy, Drexel University College of Medicine, 2900 Queen Lane, Philadelphia, PA 19129, USA.
    Mohila CA
    Gong Y
    Govindarajan N
    Onn SP
    Pokaż więcej
    Źródło:
    The European journal of neuroscience [Eur J Neurosci] 2005 Nov; Vol. 22 (10), pp. 2462-74.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Calcium-Binding Proteins/*biosynthesis
    Gyrus Cinguli/*metabolism
    Nicotine/*pharmacology
    Nicotinic Agonists/*pharmacology
    Administration, Oral ; Aging/physiology ; Animals ; Fluorescent Antibody Technique ; Gyrus Cinguli/cytology ; Gyrus Cinguli/drug effects ; Immunoenzyme Techniques ; Immunohistochemistry ; Injections, Subcutaneous ; Interneurons/physiology ; Male ; Microscopy, Confocal ; Nicotine/administration & dosage ; Nicotinic Agonists/administration & dosage ; Parietal Lobe/drug effects ; Parietal Lobe/physiology ; Rats ; Rats, Sprague-Dawley ; gamma-Aminobutyric Acid/physiology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
      Wyświetlanie 1-4 z 4

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