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    Wyświetlanie 1-12 z 12
    Tytuł:
    Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
    Autorzy:
    Stephen J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
    Yokoyama T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
    Tolman NJ; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America.
    O'Brien KJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
    Nicoli ER; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America.
    Brooks BP; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
    Huryn L; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
    Titus SA; Division of Pre-clinical Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, Maryland, United States of America.
    Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
    Chen D; Division of Hematopathology, Mayo Clinic, Rochester, Minnesota, United States of America.
    Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
    Gochuico BR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
    Malicdan MC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
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    Źródło:
    PloS one [PLoS One] 2017 Mar 15; Vol. 12 (3), pp. e0173682. Date of Electronic Publication: 2017 Mar 15 (Print Publication: 2017).
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Hermanski-Pudlak Syndrome/*pathology
    Hermanski-Pudlak Syndrome/genetics ; Humans ; Mutation
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
    Autorzy:
    Zhang Y
    Huang H
    Zhao G
    Yokoyama T
    Vega H
    Huang Y
    Sood R
    Bishop K
    Maduro V
    Accardi J
    Toro C
    Boerkoel CF
    Lyons K
    Gahl WA
    Duan X
    Malicdan MC
    Lin S
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    Źródło:
    PLoS genetics [PLoS Genet] 2017 Feb 27; Vol. 13 (2), pp. e1006624. Date of Electronic Publication: 2017 Feb 27 (Print Publication: 2017).
    Typ publikacji:
    Published Erratum
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
    Autorzy:
    Zhang Y; Laboratory of Chemical Genomics, School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen China.; Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America.
    Huang H; Laboratory of Chemical Genomics, School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen China.
    Zhao G; Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America.; Department of Orthopaedic Surgery and Orthopaedic Institute for Children, David Geffen School of Medicine, University of California, Los Angeles, California, United States of America.
    Yokoyama T; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.
    Vega H; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.
    Huang Y; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.
    Sood R; Zebrafish core, Translational and Functional Genomics Branch, National Human Genome Research Institute/NIH, Bethesda, Maryland, United States of America.
    Bishop K; Zebrafish core, Translational and Functional Genomics Branch, National Human Genome Research Institute/NIH, Bethesda, Maryland, United States of America.
    Maduro V; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.
    Accardi J; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.
    Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.
    Boerkoel CF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.
    Lyons K; Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America.; Department of Orthopaedic Surgery and Orthopaedic Institute for Children, David Geffen School of Medicine, University of California, Los Angeles, California, United States of America.
    Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, Maryland, United States of America.
    Duan X; State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Diseases, Shaanxi Key Laboratory of Oral Diseases, Department of Oral Biology, Clinic of Oral Rare and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an, China.
    Malicdan MC; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America.; Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, Maryland, United States of America.
    Lin S; Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America.
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    Źródło:
    PLoS genetics [PLoS Genet] 2017 Feb 03; Vol. 13 (2), pp. e1006481. Date of Electronic Publication: 2017 Feb 03 (Print Publication: 2017).
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Bone Development/*genetics
    Matrix Metalloproteinase 13/*genetics
    Matrix Metalloproteinase 9/*genetics
    Osteoporosis/*genetics
    Vacuolar Proton-Translocating ATPases/*genetics
    Adult ; Animals ; Bone Density/genetics ; CRISPR-Cas Systems ; Chondrocytes/metabolism ; Chondrocytes/pathology ; Humans ; Matrix Metalloproteinase 13/biosynthesis ; Matrix Metalloproteinase 9/biosynthesis ; Mice ; Mutation ; Osteoporosis/metabolism ; Osteoporosis/pathology ; Signal Transduction/genetics ; Vacuolar Proton-Translocating ATPases/deficiency ; Zebrafish/genetics ; Zebrafish/growth & development
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
    Autorzy:
    Kambouris M; Pathology-Genetics Sidra Medical and Research Center Doha Qatar; Qatar Biomedical Research Institute Medical Genetics Center Hamad Bin Khalifa University Doha Qatar; Genetics Yale University School of Medicine New Haven Chicago.
    Thevenon J; Centre de Génétique Hôpital d'Enfant Dijon France.
    Soldatos A; Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland; Undiagnosed Diseases Program National Human Genome Research Institute National Institutes of Health Bethesda Maryland.
    Cox A; Pediatrics University of Iowa Iowa City Iowa.
    Stephen J; Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland.
    Ben-Omran T; Clinical and Metabolic Genetics Pediatrics Hamad Medical Corporation Doha Qatar; Weill Cornell Medical College Doha Qatar.
    Al-Sarraj Y; Qatar Biomedical Research Institute Medical Genetics Center Hamad Bin Khalifa University Doha Qatar.
    Boulos H; Human Genetics University of Chicago Chicago Illinois.
    Bone W; Undiagnosed Diseases Program National Human Genome Research Institute National Institutes of Health Bethesda Maryland.
    Mullikin JC; Intramural Sequencing Center and Comparative Genomics Unit Genome Technology Branch National Genome Research Institute National Institutes of Health Bethesda Maryland.
    Masurel-Paulet A; Centre de Génétique Hôpital d'Enfant Dijon France.
    St-Onge J; Centre de Génétique Hôpital d'Enfant Dijon France.
    Dufford Y; Centre de Génétique Hôpital d'Enfant Dijon France.
    Chantegret C; Centre de Génétique Hôpital d'Enfant Dijon France.
    Thauvin-Robinet C; Centre de Génétique Hôpital d'Enfant Dijon France.
    Al-Alami J; Shafallah Medical Genetics Center Doha Qatar.
    Faivre L; Centre de Génétique Hôpital d'Enfant Dijon France.
    Riviere JB; Centre de Génétique Hôpital d'Enfant Dijon France.
    Gahl WA; Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland; Undiagnosed Diseases Program National Human Genome Research Institute National Institutes of Health Bethesda Maryland.
    Bassuk AG; Pediatrics University of Iowa Iowa City Iowa.
    Malicdan MC; Undiagnosed Diseases Program National Human Genome Research Institute National Institutes of Health Bethesda Maryland.
    El-Shanti H; Qatar Biomedical Research Institute Medical Genetics Center Hamad Bin Khalifa University Doha Qatar; Pediatrics University of Iowa Iowa City Iowa; Pediatrics University of Jordan Amman Jordan.
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    Corporate Authors:
    NISC Comparative Sequencing Program
    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2016 Dec 20; Vol. 4 (1), pp. 26-35. Date of Electronic Publication: 2016 Dec 20 (Print Publication: 2017).
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
    Autorzy:
    Maduro V; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
    Pusey BN; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
    Cherukuri PF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
    Atkins P; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
    du Souich C; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
    Rupps R; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
    Limbos M; Sunny Hill Health Centre for Children, Vancouver, BC, Canada.
    Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
    Bhatt SS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
    Eydoux P; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
    Links AE; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
    Lehman A; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
    Malicdan MC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
    Mason CE; Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY, USA.; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, New York, NY, USA.; The Feil Family Brain and Mind Research Institute (BMRI), New York, NY, USA.
    Morimoto M; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
    Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Sear A; Department of General Practice, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
    Van Karnebeek C; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
    Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
    Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; NHGRI, National Institutes of Health, Bethesda, MD, USA.
    Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
    Boerkoel CF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA. .; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada. .; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 May 14; Vol. 11 (1), pp. 62. Date of Electronic Publication: 2016 May 14.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics
    Intellectual Disability/*genetics
    Protein Isoforms/*genetics
    Transcription Factors/*genetics
    Translocation, Genetic/*genetics
    Alternative Splicing/genetics ; Child ; Facies ; Female ; Humans ; Hyperventilation/genetics ; Mutation/genetics ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide/genetics ; Promoter Regions, Genetic/genetics ; Transcription Factor 4
    SCR Disease Name:
    Pitt-Hopkins syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells.
    Autorzy:
    Paull D; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Sevilla A; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Zhou H; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Hahn AK; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Kim H; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Napolitano C; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Tsankov A; The Broad Institute, Cambridge, Massachusetts, USA.; The Harvard Stem Cell Institute, Harvard University, Cambridge, Massachusetts, USA.; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, Massachusetts, USA.
    Shang L; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Krumholz K; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Jagadeesan P; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Woodard CM; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Sun B; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Vilboux T; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia, USA.
    Zimmer M; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Forero E; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Moroziewicz DN; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Martinez H; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Malicdan MC; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
    Weiss KA; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Vensand LB; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Dusenberry CR; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Polus H; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Sy KT; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Kahler DJ; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Gahl WA; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institute of Health and National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland, USA.
    Solomon SL; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Chang S; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
    Meissner A; The Broad Institute, Cambridge, Massachusetts, USA.; The Harvard Stem Cell Institute, Harvard University, Cambridge, Massachusetts, USA.; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, Massachusetts, USA.
    Eggan K; The Broad Institute, Cambridge, Massachusetts, USA.; The Harvard Stem Cell Institute, Harvard University, Cambridge, Massachusetts, USA.; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, Massachusetts, USA.; The Howard Hughes Medical Institute, Cambridge, Massachusetts, USA.
    Noggle SA; The New York Stem Cell Foundation Research Institute, New York, New York, USA.
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    Źródło:
    Nature methods [Nat Methods] 2015 Sep; Vol. 12 (9), pp. 885-92. Date of Electronic Publication: 2015 Aug 03.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Batch Cell Culture Techniques/*instrumentation
    Cell Separation/*instrumentation
    Induced Pluripotent Stem Cells/*cytology
    Induced Pluripotent Stem Cells/*physiology
    Microfluidic Analytical Techniques/*instrumentation
    Robotics/*instrumentation
    Cell Differentiation/physiology ; Cells, Cultured ; Equipment Design ; Equipment Failure Analysis ; Fibroblasts/cytology ; Fibroblasts/physiology ; Humans
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles.
    Autorzy:
    Anada RP; Department of Pathology, Faculty of Medicine, University of Malaya , Kuala Lumpur , Malaysia .
    Wong KT
    Malicdan MC
    Goh KJ
    Hayashi Y
    Nishino I
    Noguchi S
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    Źródło:
    Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis [Amyloid] 2014 Jun; Vol. 21 (2), pp. 138-9. Date of Electronic Publication: 2014 Mar 07.
    Typ publikacji:
    Letter; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Amyloid beta-Peptides/*metabolism
    Central Nervous System/*metabolism
    Distal Myopathies/*metabolism
    Distal Myopathies/*pathology
    Animals ; Mice ; Mice, Knockout ; Mice, Transgenic
    SCR Disease Name:
    Distal myopathy, Nonaka type
    Raport
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
    Autorzy:
    Momma K; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
    Noguchi S
    Malicdan MC
    Hayashi YK
    Minami N
    Kamakura K
    Nonaka I
    Nishino I
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    Źródło:
    PloS one [PLoS One] 2012; Vol. 7 (12), pp. e52002. Date of Electronic Publication: 2012 Dec 14.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscular Diseases/*pathology
    Muscular Dystrophy, Duchenne/*pathology
    Vacuoles/*pathology
    Adolescent ; Adult ; Child ; Child, Preschool ; Dystrophin/genetics ; Exons/genetics ; Humans ; Middle Aged ; Muscles/pathology ; Muscular Diseases/genetics ; Muscular Dystrophy, Duchenne/genetics ; Vacuoles/genetics ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
    Autorzy:
    Malicdan MC; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
    Noguchi S
    Hayashi YK
    Nonaka I
    Nishino I
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    Źródło:
    Nature medicine [Nat Med] 2009 Jun; Vol. 15 (6), pp. 690-5.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscular Diseases/*pathology
    Muscular Diseases/*prevention & control
    N-Acetylneuraminic Acid/*metabolism
    N-Acetylneuraminic Acid/*pharmacology
    Animals ; Disease Models, Animal ; Disease Susceptibility ; Dose-Response Relationship, Drug ; Mice ; Muscular Diseases/metabolism ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    The ER-bound RING finger protein 5 (RNF5/RMA1) causes degenerative myopathy in transgenic mice and is deregulated in inclusion body myositis.
    Autorzy:
    Delaunay A; Signal Transduction, The Burnham Institute for Medical Research, La Jolla, California, USA.
    Bromberg KD
    Hayashi Y
    Mirabella M
    Burch D
    Kirkwood B
    Serra C
    Malicdan MC
    Mizisin AP
    Morosetti R
    Broccolini A
    Guo LT
    Jones SN
    Lira SA
    Puri PL
    Shelton GD
    Ronai Z
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    Źródło:
    PloS one [PLoS One] 2008 Feb 13; Vol. 3 (2), pp. e1609. Date of Electronic Publication: 2008 Feb 13.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Myositis*
    Inclusion Bodies/*metabolism
    Membrane Proteins/*physiology
    Muscular Diseases/*etiology
    Ubiquitin-Protein Ligases/*physiology
    Animals ; DNA-Binding Proteins ; Gene Expression ; Inclusion Bodies/chemistry ; Membrane Proteins/genetics ; Mice ; Mice, Transgenic ; Phenotype ; Ubiquitin-Protein Ligases/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-12 z 12

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