Autor: "Cushion, TD" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Codon modification of Tuba1a alters mRNA levels and causes a severe neurodevelopmental phenotype in mice.
Autorzy:: Leca I; Vienna Biocenter (VBC), Research Institute of Molecular Pathology (IMP), Campus-Vienna-Biocenter 1, 1030, Vienna, Austria.
Phillips AW; Vienna Biocenter (VBC), Research Institute of Molecular Pathology (IMP), Campus-Vienna-Biocenter 1, 1030, Vienna, Austria.; Department of Biology, Ludwig-Maximilians-University Munich, 82152, Planegg-Martinsried, Germany.
Ushakova L; Vienna Biocenter (VBC), Research Institute of Molecular Pathology (IMP), Campus-Vienna-Biocenter 1, 1030, Vienna, Austria.
Cushion TD; Department of Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge, CB2 3EG, UK.
Keays DA; Vienna Biocenter (VBC), Research Institute of Molecular Pathology (IMP), Campus-Vienna-Biocenter 1, 1030, Vienna, Austria. .; Department of Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge, CB2 3EG, UK. .; Department of Biology, Ludwig-Maximilians-University Munich, 82152, Planegg-Martinsried, Germany. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Jan 21; Vol. 13 (1), pp. 1215. Date of Electronic Publication: 2023 Jan 21.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Codon*/genetics
Tubulin*/genetics
Tubulin*/metabolism
Animals ; Mice ; Mutation ; Phenotype ; RNA, Messenger/genetics

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Skocz do pozycji: 2.

Tytuł:: A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse.
Autorzy:: Leca I; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.
Phillips AW; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.
Hofer I; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.
Landler L; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.; Institute of Zoology, University of Natural Resources and Life Sciences (BOKU), Vienna, Austria.
Ushakova L; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.
Cushion TD; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.
Dürnberger G; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.; Gregor Mendel Institute (GMI), Austrian Academy of Sciences, Vienna Biocenter (VBC), Vienna, Austria.; Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna Biocenter (VBC), Vienna, Austria.
Stejskal K; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.; Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna Biocenter (VBC), Vienna, Austria.
Mechtler K; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.; Gregor Mendel Institute (GMI), Austrian Academy of Sciences, Vienna Biocenter (VBC), Vienna, Austria.; Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna Biocenter (VBC), Vienna, Austria.
Keays DA; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.; Department of Anatomy and Neuroscience, University of Melbourne, Parkville, Australia.; Division of Neurobiology, Department Biology II, Ludwig-Maximilians-University Munich, Planegg-Martinsried 82152, Germany.; Pokaż więcej
Źródło:: PLoS genetics [PLoS Genet] 2020 Nov 02; Vol. 16 (11), pp. e1009104. Date of Electronic Publication: 2020 Nov 02 (Print Publication: 2020).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Brain/*pathology
Lissencephaly/*pathology
Microtubule-Associated Proteins/*metabolism
Tubulin/*genetics
Animals ; Brain/cytology ; Brain/embryology ; Cell Movement ; Cytoplasmic Dyneins/metabolism ; Disease Models, Animal ; Embryo, Mammalian ; Female ; Heterozygote ; Humans ; Lissencephaly/genetics ; Mice ; Mice, Transgenic ; Microtubules/metabolism ; Mutation, Missense ; Neurons/metabolism ; Neurons/pathology ; Protein Binding/genetics ; Proteomics ; Tubulin/metabolism

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Skocz do pozycji: 3.

Tytuł:: Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Autorzy:: Gardner JF; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. .
Cushion TD; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK. .
Niotakis G; Paediatrics Department, Venizelion Hospital, Knossos Ave, P.O. Box 44, Heraklion, 714 09 Crete, Greece. .
Olson HE; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA. .
Grant PE; Fetal-Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. .
Scott RH; Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK. .
Stoodley N; Department of Neuroradiology, North Bristol NHS Trust, Frenchay Hospital, Bristol BS16 1LE, UK. .
Cohen JS; Division of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA. .
Naidu S; Division of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA. .; Department of Neurology, The Johns Hopkins Hospital, Baltimore, Maryland, MD 21287, USA. .; Department of Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, MD 21287, USA. .
Attie-Bitach T; Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. .; Institut Imagine, INSERM U1163, Université Paris Descartes, Sorbonne Paris Cite, 75006 Paris, France. .
Bonnières M; Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. .
Boutaud L; Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. .; Institut Imagine, INSERM U1163, Université Paris Descartes, Sorbonne Paris Cite, 75006 Paris, France. .
Encha-Razavi F; Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), 75004 Paris, France. .
Palmer-Smith SM; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. .
Mugalaasi H; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. .
Mullins JGL; Institute of Life Science, Swansea University Medical School, Swansea SA2 8PP, UK. .
Pilz DT; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK. .; Department of Clinical Genetics, West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK. .
Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK. .; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK. .; Pokaż więcej
Źródło:: Brain sciences [Brain Sci] 2018 Aug 07; Vol. 8 (8). Date of Electronic Publication: 2018 Aug 07.
Typ publikacji:: Journal Article

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