Suchergebnisse - "Hereditary/metabolism"
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1
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Cornea
Cornea, vol. 43, no. 4, pp. 466-527
Weiss, J S, Rapuano, C J, Seitz, B, Busin, M, Kivelä, T T, Bouheraoua, N, Bredrup, C, Nischal, K K, Chawla, H, Borderie, V, Kenyon, K R, Kim, E K, Møller, H U, Munier, F L, Berger, T & Lisch, W 2024, 'IC3D Classification of Corneal Dystrophies-Edition 3', Cornea, vol. 43, no. 4, pp. 466-527. https://doi.org/10.1097/ICO.0000000000003420Schlagwörter: corneal, Humans, Corneal Dystrophies, Hereditary/diagnosis, Corneal Dystrophies, Hereditary/genetics, Corneal Dystrophies, Hereditary/metabolism, Mutation, Transforming Growth Factor beta/genetics, Epithelium, Corneal/pathology, Phenotype, Extracellular Matrix Proteins/genetics, Pedigree, DNA Mutational Analysis, corneal dystrophy, phenotype, extracellular matrix proteins, Special Article, inherited corneal diseases, Transforming Growth Factor beta, genetic disease, cornea, DNA mutational analysis, humans, 10. No inequality, transforming growth factor beta, Corneal Dystrophies, Hereditary, corneal dystrophies, ddc:610, Extracellular Matrix Proteins, Otorhinolaryngology, ophthalmology, Epithelium, Corneal, pedigree, cornea pathology, 3. Good health, Ophthalmology, mutation, epithelium, hereditary
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38359414
http://hdl.handle.net/10138/593279
https://serval.unil.ch/resource/serval:BIB_D50C83399CB5.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D50C83399CB51
https://serval.unil.ch/notice/serval:BIB_D50C83399CB5
https://hdl.handle.net/11392/2570200
https://journals.lww.com/corneajrnl/fulltext/2024/04000/ic3d_classification_of_corneal_dystrophies_edition.12.aspx
https://doi.org/10.1097/ICO.0000000000003420
https://hdl.handle.net/11250/3188648
http://www.scopus.com/inward/record.url?scp=85186748266&partnerID=8YFLogxK
https://pure.au.dk/portal/en/publications/dbffd0d0-5805-4cb2-9a7a-55e56faedfc0
https://doi.org/10.1097/ICO.0000000000003420 -
2
Autoren: et al.
Quelle: Cancer Immunol Immunother
Schlagwörter: 0301 basic medicine, T-Lymphocytes, Cancer Vaccines, B7-H1 Antigen, Mice, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, Lymphocytes, Tumor-Infiltrating, 0302 clinical medicine, Neoplastic Syndromes, Hereditary, Cell Line, Tumor, Positron Emission Tomography Computed Tomography, Animals, Immune Checkpoint Inhibitors, Gastrointestinal Neoplasms, Mice, Knockout, Brain Neoplasms, Myeloid-Derived Suppressor Cells, 3. Good health, Original Article, Immunotherapy, Colorectal Neoplasms, MutL Protein Homolog 1, Proto-Oncogene Proteins c-akt, Cell Line, Tumor [MeSH], In vivo imaging, T-Lymphocytes/metabolism [MeSH], Cancer Vaccines/pharmacology [MeSH], Myeloid-Derived Suppressor Cells/metabolism [MeSH], Vaccines, Combined/pharmacology [MeSH], Lymphocytes, Tumor-Infiltrating/drug effects [MeSH], Tumor microenvironment, Neoplastic Syndromes, Hereditary/drug therapy [MeSH], B7-H1 Antigen/metabolism [MeSH], Colorectal Neoplasms/metabolism [MeSH], Immunotherapy/methods [MeSH], Long-term survival, Signal Transduction/drug effects [MeSH], Positron Emission Tomography Computed Tomography/methods [MeSH], T-Lymphocytes/drug effects [MeSH], MMR deficiency, Colorectal Neoplasms/drug therapy [MeSH], Gastrointestinal Neoplasms/drug therapy [MeSH], Animals [MeSH], Gastrointestinal Neoplasms/metabolism [MeSH], Lymphocytes, Tumor-Infiltrating/metabolism [MeSH], Mice, Knockout [MeSH], MutL Protein Homolog 1/metabolism [MeSH], Neoplastic Syndromes, Hereditary/metabolism [MeSH], Mice [MeSH], Proto-Oncogene Proteins c-akt/metabolism [MeSH], Wnt Signaling Pathway/drug effects [MeSH], Phosphatidylinositol 3-Kinases/metabolism [MeSH], Brain Neoplasms/drug therapy [MeSH], Brain Neoplasms/metabolism [MeSH], Immune Checkpoint Inhibitors/pharmacology [MeSH], Signal Transduction
Zugangs-URL: https://europepmc.org/articles/pmc8571220?pdf=render
https://link.springer.com/content/pdf/10.1007/s00262-021-02933-4.pdf
https://pubmed.ncbi.nlm.nih.gov/33870463
https://link.springer.com/article/10.1007/s00262-021-02933-4
https://pubmed.ncbi.nlm.nih.gov/33870463/
https://www.ncbi.nlm.nih.gov/pubmed/33870463
https://www.researchsquare.com/article/rs-92168/v1.pdf?c=1631872813000
https://www.researchsquare.com/article/rs-92168/v1
https://link.springer.com/content/pdf/10.1007/s00262-021-02933-4.pdf
https://repository.publisso.de/resource/frl:6451425 -
3
Autoren: et al.
Schlagwörter: Adolescent, Adult, Aged, Base Sequence, Child, Preschool, Corneal Dystrophies, Hereditary/diagnosis, Hereditary/genetics, Hereditary/metabolism, DNA/genetics, DNA Mutational Analysis, Exons, Heterozygote, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Mutation, Pedigree, Sequence Deletion, Young Adult, Zinc Finger E-box-Binding Homeobox 1/genetics, Zinc Finger E-box-Binding Homeobox 1/metabolism, Zinc Fingers, Aberrant splicing, Breakpoint mapping, Exome, Genome, Massively parallel sequencing, Posterior polymorphous corneal dystrophy type 3
Relation: Experimental eye research; https://iris.unil.ch/handle/iris/68878; serval:BIB_11F7CF94E637; 000468258300018
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4
Autoren: et al.
Schlagwörter: Adult, Aged, Amyloid/metabolism, Amyloidosis, Familial/genetics, Familial/metabolism, Asparagine/genetics, Corneal Dystrophies, Hereditary/genetics, Hereditary/metabolism, DNA Mutational Analysis, Extracellular Matrix Proteins/metabolism, Female, Glycine/genetics, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype, Polymerase Chain Reaction, Transforming Growth Factor beta/metabolism, Transforming Growth Factor beta1/genetics, Visual Acuity
Relation: Ophthalmology; 1549-4713[electronic]; https://iris.unil.ch/handle/iris/56944; serval:BIB_0ED2173ADBEA; 000262276700008
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5
Autoren: et al.
Schlagwörter: Adaptor Proteins, Signal Transducing/biosynthesis, Signal Transducing/genetics, Aged, Animals, Blotting, Western, Child, Preschool, Disease Models, Animal, Eye Diseases, Hereditary/genetics, Hereditary/metabolism, Female, Gene Expression Regulation, Developmental, Humans, Immunohistochemistry, In Situ Hybridization, Male, RNA/genetics, Rats, Retinal Pigment Epithelium/cytology, Retinal Pigment Epithelium/growth & development, Retinal Pigment Epithelium/metabolism, BMP, Eye development, Sostdc1, Type 2 Peters' anomaly
Relation: Graefe's Archive for Clinical and Experimental Ophthalmology; https://iris.unil.ch/handle/iris/211622; serval:BIB_64BF268CC80B; 000493612800008
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6
Autoren: et al.
Schlagwörter: Adult, Azo Compounds, Coloring Agents, Congo Red, Corneal Dystrophies, Hereditary/metabolism, Hereditary/surgery, Corneal Stroma/metabolism, Eosine Yellowish-(YS), Extracellular Matrix Proteins/metabolism, Humans, Immunoenzyme Techniques, Keratomileusis, Laser In Situ, Keratoplasty, Penetrating, Male, Methyl Green, Middle Aged, Staining and Labeling/methods, Surgical Flaps, Transforming Growth Factor beta/metabolism
Relation: Cornea: The Journal of Cornea and External Disease; https://iris.unil.ch/handle/iris/132011; serval:BIB_71B327CAB652; 000252099700004
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7
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Biochemical and Biophysical Research Communications. 472:150-155
Schlagwörter: 0301 basic medicine, Messenger/metabolism, Smad Proteins, Transforming Growth Factor beta1/metabolism, Mutant Proteins/metabolism, Cornea, Cornea/metabolism, Models, Transforming Growth Factor beta, Cells, Cultured, Fibroblasts/metabolism, Corneal Dystrophies, Hereditary, Extracellular Matrix Proteins, 0303 health sciences, Cultured, microRNA, Homozygote, Cornea/cytology, Extracellular Matrix Proteins/metabolism, Signal Transduction, TGF-β, Corneal Dystrophies, Cells, TGFBIp, Transforming Growth Factor beta/metabolism, Models, Biological, Transforming Growth Factor beta1, 03 medical and health sciences, Humans, Point Mutation, RNA, Messenger, Hereditary/pathology, MicroRNAs/metabolism, Extracellular Matrix Proteins/genetics, Smad Proteins/metabolism, MicroRNAs/genetics, Fibroblasts, Biological, Hereditary/metabolism, MicroRNAs, Fibroblasts/cytology, Transforming Growth Factor beta/genetics, Corneal fibroblasts, Gene Expression Regulation, Granular corneal dystrophy type 2, RNA, Messenger/genetics, Hereditary/genetics, Mutant Proteins, Mutant Proteins/genetics, TGFBI
Dateibeschreibung: 150~155
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/26915797
https://pubmed.ncbi.nlm.nih.gov/26915797/
https://www.sciencedirect.com/science/article/pii/S0006291X16302753
https://yonsei.pure.elsevier.com/en/publications/tgf-%CE%B2-regulates-tgfbip-expression-in-corneal-fibroblasts-via-mir-
https://www.ncbi.nlm.nih.gov/pubmed/26915797
https://ir.ymlib.yonsei.ac.kr/handle/22282913/146486 -
8
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Experimental Eye Research. 144:14-21
Schlagwörter: ECM endocytosis, 0301 basic medicine, Hereditary/metabolism, Substances, Corneal Dystrophies, Transforming Growth Factor beta/genetics, TGFBIp, Extracellular Matrix Proteins/genetics, Hereditary/etiology, Extracellular Matrix Proteins/metabolism, 03 medical and health sciences, Transforming Growth Factor beta, betaIG-H3 protein, Autophagy, Humans, Autophagy/physiology, GCD2, Corneal Dystrophies, Hereditary, Extracellular Matrix Proteins, 0303 health sciences, 3. Good health, Corneal fibroblasts, Proteolysis, Lysosomes, Transforming Growth Factor beta/metabolism
Dateibeschreibung: 14~21
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/26386150
https://www.sciencedirect.com/science/article/abs/pii/S0014483515300294
https://ir.ymlib.yonsei.ac.kr/handle/22282913/146422
https://pubmed.ncbi.nlm.nih.gov/26386150/
https://yonsei.pure.elsevier.com/en/publications/autophagy-in-granular-corneal-dystrophy-type-2
https://europepmc.org/article/MED/26386150
http://www.sciencedirect.com/science/article/pii/S0014483515300294 -
9
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Progress in Retinal and Eye Research. 50:67-88
Schlagwörter: 0301 basic medicine, Corneal Dystrophies, Hereditary*/etiology, Oxidative Stress/physiology, Transforming Growth Factor beta/metabolism, Molecular mechanism, Cornea, 03 medical and health sciences, Transforming Growth Factor beta, Genetics, Autophagy, Humans, Genetic Predisposition to Disease, Hereditary*/metabolism, Corneal Dystrophies, Hereditary, 0303 health sciences, Hereditary*/therapy, Fibroblasts, Transforming growth factor beta-induced protein, Fibroblasts/pathology, 3. Good health, Oxidative Stress, Granular corneal dystrophy type 2, Transforming growth factor beta-induced corneal dystrophies, Mutation, Autophagy/physiology, Cornea/metabolism, Hereditary*/genetics
Dateibeschreibung: 67~88
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/26612778
http://www.sciencedirect.com/science/article/pii/S1350946215300021
https://pure.ewha.ac.kr/en/publications/pathogenesis-and-treatments-of-tgfbi-corneal-dystrophies
https://yonsei.pure.elsevier.com/en/publications/pathogenesis-and-treatments-of-tgfbi-corneal-dystrophies
https://ir.ymlib.yonsei.ac.kr/handle/22282913/146281
https://www.ncbi.nlm.nih.gov/pubmed/26612778
https://ewha.elsevierpure.com/en/publications/pathogenesis-and-treatments-of-tgfbi-corneal-dystrophies -
10
Autoren: et al.
Quelle: Science advances, vol. 5, no. 1, pp. eaau9940
Schlagwörter: Aged, Animals, Apoptosis/drug effects, Disease Models, Animal, Eye Diseases, Hereditary/metabolism, Hereditary/surgery, Female, Humans, Iron/metabolism, Iron/pharmacology, Iron/toxicity, Mice, Inbred C57BL, Transgenic, Middle Aged, Necrosis, Neuroprotection, Photoreceptor Cells, Vertebrate/metabolism, Rats, Long-Evans, Wistar, Retina/metabolism, Retinal Detachment/metabolism, Retinal Detachment/surgery, Retinal Pigment Epithelium/metabolism, Subretinal Fluid/metabolism, Transferrin/genetics
Dateibeschreibung: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/30662950; info:eu-repo/semantics/altIdentifier/eissn/2375-2548; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_66A0081D7AD04; https://serval.unil.ch/notice/serval:BIB_66A0081D7AD0; https://serval.unil.ch/resource/serval:BIB_66A0081D7AD0.P001/REF.pdf
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11
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Cornea. 34:950-958
Schlagwörter: Integrins, Hereditary/drug therapy, Anti-Inflammatory Agents, Fluorescent Antibody Technique, Corneal Keratocytes, Integrins/metabolism, Smad2 Protein, Non-Steroidal/pharmacology, Cell Proliferation/drug effects, 0302 clinical medicine, Wound Healing/physiology, Transforming Growth Factor beta, Phosphorylation, Fluorescent Antibody Technique, Indirect, Wound Healing/drug effects, Cells, Cultured, Corneal Dystrophies, Hereditary, 2. Zero hunger, Microscopy, Extracellular Matrix Proteins, Cultured, Microscopy, Confocal, Blotting, Anti-Inflammatory Agents, Non-Steroidal, Smad2 Protein/metabolism, α-SMA, Smad3 Protein/metabolism, Corneal Keratocytes/metabolism, 3. Good health, Actins/metabolism, Extracellular Matrix Proteins/metabolism, Confocal, Western, Transforming Growth Factor beta/pharmacology, TGF-β, Indirect, corneal dystrophy, Corneal Dystrophies, Cells, Blotting, Western, TGFBIp, Collagen Type I/metabolism, Transforming Growth Factor beta/metabolism, Real-Time Polymerase Chain Reaction, Corneal Keratocytes/drug effects, Collagen Type I, 03 medical and health sciences, Humans, RNA, Messenger, Smad3 Protein, pSmad, ortho-Aminobenzoates/pharmacology, Cell Proliferation, Wound Healing, Extracellular Matrix Proteins/genetics, tranilast, Actins, Hereditary/metabolism, Transforming Growth Factor beta/genetics, RNA, Messenger/genetics, Hereditary/genetics
Dateibeschreibung: 950~958
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/26020822
https://www.ncbi.nlm.nih.gov/pubmed/26020822
https://yonsei.pure.elsevier.com/en/publications/inhibitory-effect-of-tranilast-on-transforming-growth-factor-beta
https://pubmed.ncbi.nlm.nih.gov/26020822/
https://ir.ymlib.yonsei.ac.kr/handle/22282913/141035 -
12
Autoren: et al.
Quelle: Sørensen, C S, Runager, K, Scavenius, C, Jensen, M M, Nielsen, N S, Christiansen, G, Petersen, S V, Karring, H, Sanggaard, K W & Enghild, J J 2015, ' Fibril Core of Transforming Growth Factor Beta-Induced Protein (TGFBIp) Facilitates Aggregation of Corneal TGFBIp ', Biochemistry, vol. 54, no. 19, pp. 2943-2956 . https://doi.org/10.1021/acs.biochem.5b00292
Sørensen, C S, Runager, K S, Scavenius, C, Jensen, M M, Nielsen, N S, Christiansen, G, Petersen, S V, Karring, H, Sanggaard, K W & Enghild, J J 2015, 'Fibril core of transforming growth factor beta-induced protein (TGFBIp) facilitates aggregation of corneal TGFBIp', Biochemistry, vol. 19, no. 54, pp. 2943-2956. https://doi.org/10.1021/acs.biochem.5b00292Schlagwörter: Corneal Dystrophies, Hereditary, 0301 basic medicine, 2. Zero hunger, Microscopy, Extracellular Matrix Proteins, 0303 health sciences, Corneal Dystrophies, Spectrometry, Extracellular Matrix Proteins/chemistry, Corneal Stroma, Mass, Electron, Hereditary/metabolism, 03 medical and health sciences, Microscopy, Electron, Transmission, Transforming Growth Factor beta, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Corneal Stroma/metabolism, Transmission, Matrix-Assisted Laser Desorption-Ionization, Humans, Transforming Growth Factor beta/chemistry
Zugangs-URL: https://europepmc.org/articles/pmc4789106?pdf=render
https://pubmed.ncbi.nlm.nih.gov/25910219
https://europepmc.org/articles/PMC4789106
https://europepmc.org/article/MED/25910219
https://pubs.acs.org/doi/10.1021/acs.biochem.5b00292
https://www.ncbi.nlm.nih.gov/pubmed/25910219
https://pubag.nal.usda.gov/catalog/5320203
https://core.ac.uk/display/50706559
https://portal.findresearcher.sdu.dk/da/publications/bf1fb852-fa2d-4d72-abeb-e84f14286484 -
13
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Biochemical and Biophysical Research Communications. 456:288-293
Schlagwörter: Adult, Male, 0301 basic medicine, Corneal Dystrophies, Adolescent, Fibroblasts/drug effects, Cell cycle arrest, Cornea, Young Adult, 03 medical and health sciences, Gene Expression Regulation, Macrolides/chemistry, Autophagy, Humans, Cornea/cytology, Hereditary/pathology, Child, Cell Proliferation, Fibroblasts/metabolism, Corneal Dystrophies, Hereditary, 0303 health sciences, Homozygote, Cell Cycle Checkpoints, Fibroblasts, Middle Aged, Flow Cytometry, Cyclin, Hereditary/metabolism, Corneal fibroblasts, Granular corneal dystrophy type 2, Defective autophagy flux, Hereditary/genetics, Female, Macrolides
Dateibeschreibung: 288~293
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/25450621
https://www.ncbi.nlm.nih.gov/pubmed/25450621
https://pubmed.ncbi.nlm.nih.gov/25450621/
https://yonsei.pure.elsevier.com/en/publications/disrupted-cell-cycle-arrest-and-reduced-proliferation-in-corneal-
https://ir.ymlib.yonsei.ac.kr/handle/22282913/139623
https://www.sciencedirect.com/science/article/pii/S0006291X14021044
http://www.osti.gov/scitech/biblio/22416881 -
14
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Biochemical and Biophysical Research Communications. 450:1505-1511
Schlagwörter: Corneal Dystrophies, Hereditary, 0301 basic medicine, Proteasome Endopeptidase Complex, 0303 health sciences, Hereditary/metabolism, Corneal Dystrophies, Signal Transducing/metabolism, Ubiquitin, Adaptor Proteins, TGFBIp, Hereditary/enzymology, Regulatory-Associated Protein of mTOR, Autophagy, Raptor, 03 medical and health sciences, Granular corneal dystrophy type 2, Ubiquitin/metabolism, Proteolysis, Proteasome Endopeptidase Complex/metabolism, mTOR, Humans, Ubiquitin/proteasome system, Adaptor Proteins, Signal Transducing
Dateibeschreibung: 1505~1511
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/25044116
https://yonsei.pure.elsevier.com/en/publications/autophagy-is-induced-by-raptor-degradation-via-the-ubiquitinprote
https://www.ncbi.nlm.nih.gov/pubmed/25044116
https://www.sciencedirect.com/science/article/pii/S0006291X14012492
https://europepmc.org/article/MED/25044116
https://pubmed.ncbi.nlm.nih.gov/25044116/
https://ir.ymlib.yonsei.ac.kr/handle/22282913/138631 -
15
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Journal of Pineal Research. 51:94-103
Schlagwörter: 0301 basic medicine, Hereditary/drug therapy, corneal fibroblasts, Receptors, Melatonin, melatonin, Antioxidants, Superoxide Dismutase/metabolism, Glutathione Reductase/metabolism, Cornea, Receptors, oxidative stress, Cells, Cultured, Melatonin, Fibroblasts/metabolism, Corneal Dystrophies, Hereditary, 0303 health sciences, Cultured, Blotting, Melatonin/pharmacology, Paraquat/pharmacology, Catalase, Flow Cytometry, Immunohistochemistry, 3. Good health, Cornea/pathology, Glutathione Reductase, Oxidative Stress/drug effects, Cornea/drug effects, Melatonin/metabolism, Western, Cell Survival/drug effects, Paraquat, Hereditary/metabolism, Corneal Dystrophies, Cell Survival, Cells, Blotting, Western, 03 medical and health sciences, Reactive Oxygen Species/metabolism, melatonin receptors, Humans, Hereditary/pathology, Hydrogen Peroxide/metabolism, granular corneal dystrophy type 2, Analysis of Variance, Superoxide Dismutase, Catalase/metabolism, Hydrogen Peroxide, Fibroblasts, Fibroblasts/pathology, Fibroblasts/drug effects, Oxidative Stress, Antioxidants/pharmacology, Reactive Oxygen Species
Dateibeschreibung: 94~103
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/21392093
https://onlinelibrary.wiley.com/doi/10.1111/j.1600-079X.2011.00866.x/full
https://yonsei.pure.elsevier.com/en/publications/melatonin-protects-against-oxidative-stress-in-granular-corneal-d
https://pubmed.ncbi.nlm.nih.gov/21392093/
https://onlinelibrary.wiley.com/doi/10.1111/j.1600-079X.2011.00866.x
https://europepmc.org/article/MED/21392093
http://onlinelibrary.wiley.com/doi/10.1111/j.1600-079X.2011.00866.x/full -
16
Autoren: et al.
Quelle: J Cell Biol
Edgar, J M, McLaughlin, M, Yool, D, Zhang, S C, Fowler, J H, Montague, P, Barrie, J A, McCulloch, M C, Duncan, I, Garbern, J, Nave, K-A & Griffiths, I R 2004, ' Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia. ', Journal of Cell Biology, vol. 166, no. 1, pp. 121-31 .Schlagwörter: 0301 basic medicine, Heterozygote, Time Factors, Spastic Paraplegia, Hereditary/pathology, Blotting, Western, Axons/metabolism, Spinal Cord/pathology, Mice, 03 medical and health sciences, Spastic Paraplegia, Hereditary/genetics, Animals, Research Articles, Alleles, Cytoskeleton, Myelin Sheath, Myelin Sheath/metabolism, 0303 health sciences, Reverse Transcriptase Polymerase Chain Reaction, Spastic Paraplegia, Hereditary, Cell Membrane/metabolism, Cell Membrane, Biological Transport, Optic Nerve, Immunohistochemistry, Axons, Mice, Mutant Strains, Disease Models, Animal, Oligodendroglia, Oligodendroglia/metabolism, Phenotype, Spinal Cord, Cytoskeleton/metabolism, Spastic Paraplegia, Hereditary/metabolism, Optic Nerve/metabolism
Dateibeschreibung: application/pdf
Zugangs-URL: https://rupress.org/jcb/article-pdf/166/1/121/1315015/121.pdf
https://pubmed.ncbi.nlm.nih.gov/15226307
http://eprints.gla.ac.uk/26315/
https://pure.mpg.de/pubman/faces/ViewItemOverviewPage.jsp?itemId=item_2188449
http://europepmc.org/abstract/MED/15226307
https://www.research.ed.ac.uk/portal/en/publications/oligodendroglial-modulation-of-fast-axonal-transport-in-a-mouse-model-of-hereditary -spastic-paraplegia(37c38680-5299-44bd-8c72-96c35f3be8b4)/export.html
http://www.ncbi.nlm.nih.gov/pubmed/15226307
https://pubmed.ncbi.nlm.nih.gov/15226307/
https://www.pure.ed.ac.uk/ws/files/11856946/Oligodendroglial_modulation_of_fast_axonal_transport_in_a_mouse_model_of_hereditary_spastic_paraplegia.pdf
https://hdl.handle.net/20.500.11820/37c38680-5299-44bd-8c72-96c35f3be8b4 -
17
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD)
Autoren: et al.
Quelle: Kamma-Lorger, C S, Pinali, C, Martínez, J C, Harris, J, Young, R D, Bredrup, C, Crosas, E, Malfois, M, Rødahl, E, Meek, K M & Knupp, C 2016, 'Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD)', PLoS ONE, vol. 11, no. 2. https://doi.org/10.1371/journal.pone.0147948
Schlagwörter: Chondroitinases and Chondroitin Lyases/metabolism, Collagen/metabolism, Cornea/pathology, Corneal Dystrophies, Hereditary/metabolism, Decorin/chemistry, Humans, Imaging, Three-Dimensional, Models, Molecular, Mutant Proteins/chemistry, Protein Multimerization, Scattering, Small Angle, Structural Homology, Protein, Tomography, X-Ray Diffraction
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18
Weitere Verfasser: et al.
Schlagwörter: Aged, Bestrophins, Chloride Channels/genetics, Chloride Channels/metabolism, DNA/genetics, DNA Mutational Analysis, Electrooculography, Electroretinography, Eye Diseases, Hereditary/diagnosis, Hereditary/genetics, Hereditary/metabolism, Eye Proteins/genetics, Eye Proteins/metabolism, Female, Fluorescein Angiography, Fundus Oculi, Genes, Recessive, Genetic Testing, HEK293 Cells, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype, Retinal Diseases/diagnosis, Retinal Diseases/genetics, Retinal Diseases/metabolism
Relation: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; J01187; https://ir.ymlib.yonsei.ac.kr/handle/22282913/157069; T201505232; 41377
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19
Weitere Verfasser: et al.
Schlagwörter: Cornea/cytology, Cornea/pathology, Corneal Dystrophies, Hereditary/genetics, Hereditary/metabolism, Hereditary/pathology, Extracellular Matrix/metabolism, Extracellular Matrix/secretion, Extracellular Matrix Proteins/genetics, Extracellular Matrix Proteins/secretion, Fibroblasts/cytology, Fibroblasts/pathology, Gene Expression Regulation, Gene Knockdown Techniques, Histone-Lysine N-Methyltransferase/deficiency, Histone-Lysine N-Methyltransferase/genetics, Histone-Lysine N-Methyltransferase/metabolism, Histones/chemistry, Histones/metabolism, Homozygote, Humans, Lysine/metabolism, Methylation, Myeloid-Lymphoid Leukemia Protein/deficiency, Myeloid-Lymphoid Leukemia Protein/genetics, Myeloid-Lymphoid Leukemia Protein/metabolism, Protein Transport, Smad3 Protein/metabolism, Transcription, Genetic
Relation: BMC MEDICAL GENOMICS; J00362; https://ir.ymlib.yonsei.ac.kr/handle/22282913/156752; T201504471; BMC MEDICAL GENOMICS, Vol.8 : 74, 2015; 39881
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20
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Hepatology. 12:213-217
Schlagwörter: Adult, Anions, Male, 0301 basic medicine, 0303 health sciences, Adolescent, Adult, Anions/metabolism*, Carrier Proteins/metabolism*, Cell Membrane/metabolism, Female, Gilbert Disease/metabolism*, Humans, Hyperbilirubinemia, Hereditary/metabolism*, Liver/metabolism*, Male, Reference Values, Sulfobromophthalein/pharmacokinetics, Adolescent, Adolescent, Adult, Anions, metabolism, Carrier Proteins, metabolism, Cell Membrane, metabolism, Female, Gilbert Disease, metabolism, Humans, Hyperbilirubinemia, Hereditary, metabolism, Liver, metabolism, Male, Reference Values, Sulfobromophthalein, pharmacokinetics, Cell Membrane, Sulfobromophthalein, 03 medical and health sciences, Liver, Hyperbilirubinemia, Hereditary, Reference Values, Humans, Female, Gilbert Disease, Carrier Proteins
Dateibeschreibung: STAMPA
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/2391064
http://www.ncbi.nlm.nih.gov/pubmed/2391064?dopt=Abstract
http://hdl.handle.net/11368/2844357
https://www.ncbi.nlm.nih.gov/pubmed/2391064
https://aasldpubs.onlinelibrary.wiley.com/doi/10.1002/hep.1840120206
https://core.ac.uk/display/53746186
https://europepmc.org/article/MED/2391064
https://hdl.handle.net/11368/2844357
http://www.ncbi.nlm.nih.gov/pubmed/2391064?dopt=Abstract
https://hdl.handle.net/11386/3138243
https://hdl.handle.net/11591/202874
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