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المؤلفون: Jens U. Marquardt, Dennis Strand, Snorri S. Thorgeirsson, Kerstin Fischer, Shengyun Ma, Peter R. Galle, Ulrich Zechner, Katharina Bauß, Matthias Linke, Markus Krupp, Andreas Teufel, Anubha Kashyap, Susanne Strand
المصدر: Hepatology. 58:1054-1064
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Hepatology, Microarray analysis techniques, Cancer, Biology, medicine.disease, Chronic liver disease, Internal medicine, Hepatocellular carcinoma, Sirtuin, Cancer research, medicine, biology.protein, Epigenetics, Lung cancer
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المؤلفون: Kerstin Nagel-Wolfrum, Uwe Wolfrum, Nasrin Sorusch, Barbara Knapp, Katharina Bauß, Janet Plutniok, Ananya Samanta
المصدر: Human Molecular Genetics. :ddx027
مصطلحات موضوعية: 0301 basic medicine, Scaffold protein, Usher syndrome, Nonsense mutation, Nerve Tissue Proteins, Biology, Protein–protein interaction, 03 medical and health sciences, USH2 complex, Deaf-Blind Disorders, Hair Cells, Auditory, otorhinolaryngologic diseases, Genetics, medicine, Humans, Photoreceptor Cells, Protein Interaction Maps, Molecular Biology, Genetics (clinical), Extracellular Matrix Proteins, Membrane Proteins, General Medicine, medicine.disease, Transmembrane protein, Protein Structure, Tertiary, Cell biology, 030104 developmental biology, Multiprotein Complexes, Mutation, biology.protein, Antibody, Usher Syndromes, Function (biology), Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a92a66d7fb75de5adb2b410a314a401
https://doi.org/10.1093/hmg/ddx027 -
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المؤلفون: Nasrin, Sorusch, Kirsten, Wunderlich, Katharina, Bauss, Kerstin, Nagel-Wolfrum, Uwe, Wolfrum
المصدر: Advances in experimental medicine and biology. 801
مصطلحات موضوعية: Polycystic Kidney Diseases, Leber Congenital Amaurosis, Humans, Cilia, Usher Syndromes, Retina, Retinitis Pigmentosa, Ciliary Motility Disorders, Encephalocele
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c0783543178937d078fb6eed5dd4f59b
https://pubmed.ncbi.nlm.nih.gov/24664740 -
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المؤلفون: Tina Märker, Uwe Wolfrum, Katharina Bauß, Hannie Kremer, Erwin van Wijk, Pia Jores, Ronald Roepman, Barbara Knapp
المصدر: Human Molecular Genetics, 23, 15, pp. 3923-42
Human Molecular Genetics, 23, 3923-42مصطلحات موضوعية: Scaffold protein, Guanylate kinase, Molecular Sequence Data, Primary Cell Culture, Nerve Tissue Proteins, Biology, Endocytosis, Photoreceptor cell, Exocytosis, Mice, Ciliogenesis, Genetics, medicine, Animals, Humans, Protein Interaction Domains and Motifs, Amino Acid Sequence, Phosphorylation, RNA, Small Interfering, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Molecular Biology, Genetics (clinical), Adaptor Proteins, Signal Transducing, Binding Sites, General Medicine, Clathrin, Cell biology, Mice, Inbred C57BL, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], medicine.anatomical_structure, HEK293 Cells, Gene Expression Regulation, Ciliary pocket, Carrier Proteins, Sterile alpha motif, Guanylate Kinases, Sequence Alignment, Usher Syndromes, Photoreceptor Cells, Vertebrate, Protein Binding, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754158005b5b8d3f28cdea5a72c2b122
https://pubmed.ncbi.nlm.nih.gov/24608321 -
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المؤلفون: Kirsten A. Wunderlich, Kerstin Nagel-Wolfrum, Katharina Bauss, Nasrin Sorusch, Uwe Wolfrum
المصدر: Retinal Degenerative Diseases ISBN: 9781461432081
مصطلحات موضوعية: Scaffold protein, Genetics, Retina, Usher syndrome, Biology, medicine.disease, Interactome, Ciliopathies, Ciliopathy, medicine.anatomical_structure, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Retinal Dystrophies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7c426301daf2baae1e4beefe138a5eb5
https://doi.org/10.1007/978-1-4614-3209-8_67 -
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المؤلفون: Ronald Roepman, Uwe Wolfrum, Katharina Bauß, Nasrin Sorusch, Tina Maerker, A Kunz, H. Kremer, Nora Overlack, E. van Wijk
المصدر: Cilia, Vol 1, Iss Suppl 1, p P48 (2012)
Ciliaمصطلحات موضوعية: Scaffold protein, Retinal degeneration, Genetics, Opsin, lcsh:Cytology, Protein subunit, Cilium, Cell Biology, Biology, medicine.disease, Opsin transport, Cell biology, Microtubule, Retinitis pigmentosa, Poster Presentation, medicine, sense organs, lcsh:QH573-671
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المؤلفون: Hannie Kremer, Dilek Kilic, Tina Märker, Katharina Bauß, Nora Overlack, Uwe Wolfrum, Erwin van Wijk
المصدر: Biochimica et Biophysica Acta (BBA)-Molecular Cell Research; Vol 1813
Biochimica et Biophysica Acta. Molecular Cell Research, 1813, 10, pp. 1883-92
Biochimica et Biophysica Acta. Molecular Cell Research, 1813, 1883-92مصطلحات موضوعية: Scaffold protein, Usher syndrome, Phosphodiesterase 4D interacting protein (PDE4DIP), Muscle Proteins, Plasma protein binding, Mice, 0302 clinical medicine, Yeasts, Chlorocebus aethiops, Nuclear protein, Cells, Cultured, Genetics, 0303 health sciences, education.field_of_study, Nuclear Proteins, Cell biology, COS Cells, symbols, Photoreceptor Cells, Vertebrate, Protein Binding, Microtubule based transport, Nerve Tissue Proteins, Biology, Models, Biological, Retina, 03 medical and health sciences, symbols.namesake, medicine, Animals, Humans, education, Molecular Biology, Adaptor Proteins, Signal Transducing, 030304 developmental biology, Cell Biology, Glycostation disorders [IGMD 4], Golgi apparatus, medicine.disease, Macaca mulatta, Mice, Inbred C57BL, Cytoskeletal Proteins, Photoreceptor cell function, Myomegalin, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Cattle, Ankyrin repeat, Ciliary base, Intracellular transport, 030217 neurology & neurosurgery, Sensorineuronal degeneration
وصف الملف: application/pdf
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المؤلفون: Ruxandra Farcas, Thomas Haaf, Oliver Bartsch, Gabriele Frey-Mahn, Brigitte Schneider-Rätzke, Ulrike Napiontek, Uwe Wolfrum, Nicolai Kohlschmidt, Vera Beyer, Bärbel Grossmann, Annerose Keilmann, Tina Märker, Katharina Bauss, Eberhard Schneider, Angelika Daser, Ulrich Zechner
المصدر: Human molecular genetics. 18(4)
مصطلحات موضوعية: Male, Candidate gene, Heterozygote, Usher syndrome, PDZ domain, Molecular Sequence Data, Chromosomal translocation, Biology, Translocation, Genetic, Consanguinity, otorhinolaryngologic diseases, Genetics, medicine, Humans, Amino Acid Sequence, Hearing Loss, Molecular Biology, Genetics (clinical), Gene Rearrangement, Bacterial artificial chromosome, medicine.diagnostic_test, Base Sequence, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 11, Breakpoint, Homozygote, Chromosome, General Medicine, medicine.disease, Molecular biology, Pedigree, Child, Preschool, Ear, Inner, Female, Usher Syndromes, Fluorescence in situ hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e38b7c6ff760b1b2a2907e1d777bc6c
https://pubmed.ncbi.nlm.nih.gov/19028668 -
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المؤلفون: V Etz, Katharina Bauss, Uwe Wolfrum, E. van Wijk, Rachel Roepman, Tina Maerker, A Klinger, H. Kremer
المصدر: Cilia
مصطلحات موضوعية: Scaffold protein, Immunoelectron microscopy, Cell Biology, Biology, Endocytosis, Interactome, Photoreceptor cell, Cell biology, Vesicular transport protein, medicine.anatomical_structure, Ciliary pocket, Poster Presentation, medicine, Ankyrin repeat
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