Suchergebnisse - "Ion Channels genetics"
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1
Autoren:
Quelle: Pflugers Arch
Pflügers Archiv 476(6), 923-937 (2024). doi:10.1007/s00424-024-02964-7Schlagwörter: 0301 basic medicine, 0303 health sciences, Cell Death, Ion channels, Receptors and Transporters, Hydrogen-Ion Concentration, Receptors, G-Protein-Coupled, Acid Sensing Ion Channels, 03 medical and health sciences, Chloride Channels, Cell Line, Tumor, Humans, Calcium, Receptors, G-Protein-Coupled/metabolism [MeSH], Cell Line, Tumor [MeSH], Medulloblastoma, Cerebellar Neoplasms/pathology [MeSH], Medulloblastoma/pathology [MeSH], Cell Size [MeSH], Chloride Channels/metabolism [MeSH], Medulloblastoma/metabolism [MeSH], Cell Death [MeSH], Receptors, G-Protein-Coupled/genetics [MeSH], Acid Sensing Ion Channels/genetics [MeSH], Calcium/metabolism [MeSH], Cell volume regulation, Humans [MeSH], Cell death, Cerebellar Neoplasms/metabolism [MeSH], Chloride Channels/genetics [MeSH], Large-Conductance Calcium-Activated Potassium Channel alpha Subunits/genetics [MeSH], Hydrogen-Ion Concentration [MeSH], Large-Conductance Calcium-Activated Potassium Channel alpha Subunits/metabolism [MeSH], Ion channels, Acid Sensing Ion Channels/metabolism [MeSH], Extracellular acidity, Tumour microenvironment, Cerebellar Neoplasms, Large-Conductance Calcium-Activated Potassium Channel alpha Subunits, Cell Size
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2
Autoren: et al.
Weitere Verfasser: et al.
Quelle: J Appl Physiol (1985)
Journal of Applied Physiology, 135 (1)Schlagwörter: Mechanotransduction, ultrasound, Ion Channels/genetics, tendon stiffness, 610 Medicine & health, 2700 General Medicine, Mechanotransduction, Cellular, Ion Channels, Tendons, Patellar Ligament, Gain of Function Mutation, Elastic Modulus, Patellar Ligament/physiology, Humans, 10046 Balgrist University Hospital, Swiss Spinal Cord Injury Center, Cellular, jump performance, mechanotransduction, Tendons/physiology, Research Article
Dateibeschreibung: application/application/pdf; 2023_Gotschi_PIEZO1_gain_of_function_gene_variant_is_associated_with_elevated_tendon_stiffness_in_humans_JAP.pdf - application/pdf
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3
Autoren: et al.
Quelle: Cell Mol Life Sci
Cellular and molecular life sciences, vol. 81, no. 1, pp. 266Schlagwörter: Acid Sensing Ion Channels, Elapid Venoms, Models, Molecular, Xenopus laevis, Binding Sites, Animals, Humans, Original Article, Amino Acid Sequence, Acid Sensing Ion Channels/metabolism, Acid Sensing Ion Channels/genetics, Acid Sensing Ion Channels/chemistry, Rats, Elapid Venoms/chemistry, Elapid Venoms/metabolism, Elapid Venoms/pharmacology, Elapid Venoms/genetics, Peptides, ASIC, Allosteric modulation, Electrophysiology, Gating modifier, Ligand selectivity, Protein-protein interaction, Specificity, Venom peptide, 3. Good health
Dateibeschreibung: application/pdf
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4
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Nano Letters. 22:7415-7422
Schlagwörter: Gene Editing, 0301 basic medicine, Gene Editing* / methods, gene editing, Piezo1 ion channel, Ion Channels, torque force, 03 medical and health sciences, CRISPR-Associated Protein 9, Magnetic nanoparticles, CRISPR-Associated Protein 9* / genetics, CRISPR-Cas Systems / genetics, Animals, CRISPR-Cas9, CRISPR-Cas Systems, Ion Channels / genetics
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36069378
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5
Autoren: et al.
Quelle: Bone Res
Bone Research, Vol 12, Iss 1, Pp 1-16 (2024)Schlagwörter: Cartilage, Articular, 0301 basic medicine, 0303 health sciences, QH301-705.5, Physiology, Osteophyte, Article, Ion Channels, Mice, 03 medical and health sciences, Chondrocytes, Osteogenesis, Osteoarthritis, QP1-981, Animals, Humans, Ion Channels/genetics [MeSH], Humans [MeSH], Animals [MeSH], 631/443, Mice [MeSH], Cartilage, Articular/pathology [MeSH], Osteoarthritis/genetics [MeSH], 692/699, Osteophyte/metabolism [MeSH], article, Chondrocytes [MeSH], Osteogenesis/genetics [MeSH], Biology (General)
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Autoren: et al.
Quelle: Commun Biol
Communications Biology, Vol 6, Iss 1, Pp 1-13 (2023)
Communications biology, vol. 6, no. 1, pp. 857Schlagwörter: Acid Sensing Ion Channels, Animals, Mice, Acid Sensing Ion Channels/genetics, Body Temperature, Energy Metabolism/genetics, Hypothalamus, RNA, Messenger, QH301-705.5, Biology (General), Energy Metabolism, Article
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37591947
https://doaj.org/article/1a56f049de1e49678db476469c0d0a2b
https://serval.unil.ch/resource/serval:BIB_B248EF4DD49B.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_B248EF4DD49B
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B248EF4DD49B3 -
7
Autoren: et al.
Quelle: Eur J Hum Genet
Schlagwörter: 0301 basic medicine, 2. Zero hunger, ddc:610, Long QT Syndrome/genetics [MeSH], Mutation [MeSH], Ion Channels/genetics [MeSH], Humans [MeSH], Genetic Heterogeneity [MeSH], Long QT Syndrome/diagnosis [MeSH], Clinical Utility Gene Card Update, Genetics research, Genetic Testing/standards [MeSH], Sensitivity and Specificity [MeSH], Cardiovascular diseases, Phenotype [MeSH], Genetic Testing/methods [MeSH], Sensitivity and Specificity, Ion Channels, 3. Good health, Genetic Heterogeneity, Long QT Syndrome, 03 medical and health sciences, Phenotype, 0302 clinical medicine, Mutation, Humans, Genetic Testing
Dateibeschreibung: application/pdf
Zugangs-URL: https://www.nature.com/articles/s41431-021-00904-y.pdf
https://pubmed.ncbi.nlm.nih.gov/34031550
https://www.nature.com/articles/s41431-021-00904-y
https://pubmed.ncbi.nlm.nih.gov/34031550/
https://www.ncbi.nlm.nih.gov/pubmed/34031550
http://www-nature-com-443.webvpn.bjmu.tsg211.com/articles/s41431-021-00904-y
https://www.nature.com/articles/s41431-021-00904-y.pdf
https://www.narcis.nl/publication/RecordID/oai%3Apure.amc.nl%3Apublications%2Fa4cefb01-8868-44d3-90fb-95baadc781ea
https://pure.amsterdamumc.nl/en/publications/d91c1bb2-794a-4b9f-a86c-7688d92b86f8
https://doi.org/10.1038/s41431-021-00904-y
https://repository.publisso.de/resource/frl:6442790 -
8
Autoren: et al.
Schlagwörter: Alzheimer Disease/metabolism, Andersen Syndrome/metabolism, Animals, Cell Membrane/metabolism, Epithelial Cells/metabolism, Humans, Ion Channels/genetics, Ion Channels/metabolism, Muscle, Smooth/metabolism, Protein Transport, Signal Transduction
Relation: Channels; Channels (Austin); https://iris.unil.ch/handle/iris/139381; serval:BIB_8488B5C550AC
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: eLife
eLife, Vol 12 (2023)Schlagwörter: TRPM3 protein, human, Life Sciences & Biomedicine - Other Topics, 0301 basic medicine, Immunology and Microbiology (all), Medizin, Neurodevelopmental Disorders/genetics, 0601 Biochemistry and Cell Biology, Epilepsy/genetics, Ion Channels, ACTIVATION, neuroscience, cell biology, Human health sciences, Biology (General), Mammals, 0303 health sciences, Mammals/metabolism, neurodevelopment, General Neuroscience, General Medicine, 3. Good health, Neurology, intellectual disability, Gain of Function Mutation, Medicine, Life Sciences & Biomedicine, Neurosteroids, Human, QH301-705.5, Science, Ion Channels/genetics, TRPM Cation Channels, Sciences de la santé humaine, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, cerebellar atrophy, Neurologie, Animals, Humans, human, TRPM3, Biology, Neuroscience (all), Biochemistry, Genetics and Molecular Biology (all), Science & Technology, 42 Health sciences, gain-of-function, Epilepsy, General Immunology and Microbiology, 31 Biological sciences, 32 Biomedical and clinical sciences, Cell Biology, TRPM Cation Channels/metabolism, Neurodevelopmental Disorders, TRPM Cation Channels/genetics, epilepsy, GENERATION
Dateibeschreibung: text
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36648066
https://doaj.org/article/40dfdc180e96470192bccc762e052743
https://eprints.soton.ac.uk/474631/
https://www.ncbi.nlm.nih.gov/pubmed/36648066
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85147090927
https://doi.org/10.7554/eLife.81032 -
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Autoren: et al.
Quelle: ISSN: 0167-4889 ; Biochimica et biophysica acta. Molecular cell research, vol. 1870, no. 3 (2023) 119415.
Schlagwörter: info:eu-repo/classification/ddc/612, info:eu-repo/classification/ddc/616.07, Cancer, Ion channels, Oxidases, Pharmacology, Screening, PH homeostasis, Male, Mice, Animals, Humans, Ion Channels / genetics, Ion Channels / metabolism, Protons, Cell Membrane / metabolism, NADPH Oxidases / metabolism, Phagocytes / metabolism
Relation: info:eu-repo/semantics/altIdentifier/pmid/36640925; unige:166897
Verfügbarkeit: https://archive-ouverte.unige.ch/unige:166897
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Autoren: et al.
Schlagwörter: Adenosine Triphosphate/metabolism, CD4-Positive T-Lymphocytes/cytology, CD4-Positive T-Lymphocytes/immunology, CD8-Positive T-Lymphocytes/cytology, CD8-Positive T-Lymphocytes/immunology, Calorimetry, Carrier Proteins/genetics, Cell Movement/immunology, Cytochromes c/genetics, Energy Metabolism/immunology, Estrogen Receptor alpha/genetics, Flow Cytometry/methods, Humans, Immunologic Memory/immunology, Immunophenotyping/methods, Ion Channels/genetics, L-Selectin/metabolism, Mitochondrial Proteins/genetics, Mitochondrial Proton-Translocating ATPases/genetics, RNA, Messenger/metabolism, Receptors, CCR7/metabolism
Relation: Blood; 1528-0020[electronic]; https://iris.unil.ch/handle/iris/250573; serval:BIB_FD2B4227464E; 000262162800016
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Autoren: et al.
Schlagwörter: Alleles Animals Color Vision Defects/*genetics/physiopathology/veterinary Cones (Retina) Dog Diseases/genetics Dogs *Genes, Recessive Humans Ion Channels/*genetics *Mutation Phenotype
Relation: European Journal of Human Genetics; https://iris.unil.ch/handle/iris/207468; serval:BIB_93D376F39E30; 000227117100009
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13
Autoren: et al.
Schlagwörter: Acid Sensing Ion Channels/chemistry, Acid Sensing Ion Channels/genetics, Acid Sensing Ion Channels/metabolism, Binding Sites, Humans, Hydrogen-Ion Concentration, Models, Molecular, Mutation, Protein Structure, Tertiary, Sodium/metabolism, Toxins, Biological/metabolism, acid-sensing ion channel, conformational changes, kinetic model, pH sensing, voltage clamp fluorometry
Dateibeschreibung: application/pdf
Relation: Proceedings of the National Academy of Sciences; https://iris.unil.ch/handle/iris/91206; serval:BIB_39E189CDEDD9; 000398159000066
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Autoren: et al.
Quelle: J Hum Genet
Schlagwörter: Adult, Male, 0301 basic medicine, Adolescent, Genotype, Brief Communication, Ghana, Severity of Illness Index, Ion Channels, 03 medical and health sciences, Humans, Genetic Predisposition to Disease, Child, Alleles, Genetic Association Studies, Aged, Disease Resistance, Sequence Deletion, Aged, 80 and over, 0303 health sciences, Aged, 80 and over [MeSH], Aged [MeSH], Ion Channels/genetics [MeSH], Malaria/genetics [MeSH], Disease Resistance/genetics [MeSH], Male [MeSH], Genetic association study, Malaria/diagnosis [MeSH], Case-Control Studies [MeSH], Child [MeSH], Genetic Association Studies/methods [MeSH], Genetic Predisposition to Disease [MeSH], Adolescent [MeSH], Female [MeSH], Ghana [MeSH], Adult [MeSH], Humans [MeSH], Malaria/parasitology [MeSH], Severity of Illness Index [MeSH], Middle Aged [MeSH], Young Adult [MeSH], Sequence Deletion [MeSH], Genotype [MeSH], Alleles [MeSH], Malaria, Middle Aged, 3. Good health, Case-Control Studies, Female
Zugangs-URL: https://www.nature.com/articles/s10038-021-00958-2.pdf
https://pubmed.ncbi.nlm.nih.gov/34230590
https://zenodo.org/record/4925969
https://europepmc.org/article/MED/34230590
https://www.nature.com/articles/s10038-021-00958-2.pdf
https://www.nature.com/articles/s10038-021-00958-2
https://pubmed.ncbi.nlm.nih.gov/34230590/
https://repository.publisso.de/resource/frl:6443904 -
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Autoren: et al.
Quelle: Ślęczkowska, M, Almomani, R, Marchi, M, Salvi, E, de Greef, B T A, Sopacua, M, Hoeijmakers, J G J, Lindsey, P, Waxman, S G, Lauria, G, Faber, C G, Smeets, H J M & Gerrits, M M 2022, 'Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy', International journal of molecular sciences, vol. 23, no. 22, 14095. https://doi.org/10.3390/ijms232214095
Schlagwörter: Anoctamins, Cohort Studies, Diabetic Neuropathies/genetics, Humans, Ion Channels/genetics, Neuralgia/genetics, Potassium Channels/genetics, Small Fiber Neuropathy/genetics, MIPs-NGS, Ion channel, Peripheral neuropathy, Neuropathic pain, Idiopathic small fiber neuropathy
Relation: info:eu-repo/semantics/altIdentifier/pmid/36430572; info:eu-repo/semantics/altIdentifier/wos/000887462800001; info:eu-repo/semantics/altIdentifier/pissn/1661-6596; info:eu-repo/semantics/altIdentifier/eissn/1422-0067
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Autoren: et al.
Quelle: Eur J Hum Genet
Broendberg, A K, Christiansen, M K, Nielsen, J C, Pedersen, L N & Jensen, H K 2018, 'Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias', European Journal of Human Genetics, vol. 26, no. 3, pp. 303-313. https://doi.org/10.1038/s41431-017-0060-8Schlagwörter: Adult, Male, Ion Channels/genetics, Arrhythmias, Cardiac, Sequence Analysis, DNA, Article, Ion Channels, 3. Good health, 03 medical and health sciences, Arrhythmias, Cardiac/complications, Death, Sudden, Cardiac, 0302 clinical medicine, Gene Frequency, Mutation, Humans, Female, Genetic Testing, Death, Sudden, Cardiac/etiology, Genome-Wide Association Study
Dateibeschreibung: application/pdf
Zugangs-URL: https://www.nature.com/articles/s41431-017-0060-8.pdf
https://pubmed.ncbi.nlm.nih.gov/29343803
https://www.nature.com/articles/s41431-017-0060-8/
http://europepmc.org/articles/PMC5838968
https://pubmed.ncbi.nlm.nih.gov/29343803/
https://www.ncbi.nlm.nih.gov/pubmed/29343803
https://www.nature.com/articles/s41431-017-0060-8.pdf
https://pure.au.dk/ws/files/166761480/s41431_017_0060_8.pdf
https://pure.au.dk/ws/files/166761480/s41431_017_0060_8.pdf
http://www.scopus.com/inward/record.url?scp=85040706188&partnerID=8YFLogxK
https://doi.org/10.1038/s41431-017-0060-8
https://pure.au.dk/portal/en/publications/0e479511-9e52-44c5-ba6d-ece691e2dc98 -
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Autoren: et al.
Quelle: Audain, E, Wilsdon, A, Breckpot, J, Izarzugaza, J M G, Fitzgerald, T W, Kahlert, A-K, Sifrim, A, Wünnemann, F, Perez-Riverol, Y, Abdul-Khaliq, H, Bak, M, Bassett, A S, Benson, D W, Berger, F, Daehnert, I, Devriendt, K, Dittrich, S, Daubeney, P E, Garg, V, Hackmann, K, Hoff, K, Hofmann, P, Dombrowsky, G, Pickardt, T, Bauer, U, Keavney, B D, Klaassen, S, Kramer, H-H, Marshall, C R, Milewicz, D M, Lemaire, S, Coselli, J S, Mitchell, M E, Tomita-Mitchell, A, Prakash, S K, Stamm, K, Stewart, A F R, Silversides, C K, Siebert, R, Stiller, B, Rosenfeld, J A, Vater, ....
Schlagwörter: DNA Copy Number Variations/genetics, Databases, Genetic, Gene Expression/genetics, Gene Expression Profiling/methods, Genetic Predisposition to Disease/genetics, Genomics/methods, Haploinsufficiency/genetics, Heart Defects, Congenital/genetics, Humans, Ion Channels/genetics, Membrane Proteins/genetics, Polymorphism, Single Nucleotide/genetics, Transcriptome/genetics
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Autoren: et al.
Quelle: Hallenborg, P, Fjære, E, Liaset, B, Petersen, R K, Murano, I, Sonne, S B, Falkerslev, M, Winther, S, Jensen, B A H, Ma, T, Hansen, J B, Cinti, S, Blagoev, B, Madsen, L & Kristiansen, K 2016, ' p53 regulates expression of uncoupling protein 1 through binding and repression of PPARγ coactivator-1α ', American Journal of Physiology: Endocrinology and Metabolism, vol. 310, no. 2, pp. E116-E128 . https://doi.org/10.1152/ajpendo.00119.2015
Schlagwörter: 0301 basic medicine, Proliferator-activated, Thermogenesis/genetics, Cells, Knockout, Adipose Tissue, White, Ion Channels/genetics, Transcription Factors/genetics, Peroxisome, Diet, High-Fat, Weight Gain, Ion Channels, Mitochondrial Proteins, Mice, 03 medical and health sciences, Adipose Tissue, Brown, Brown/metabolism, Adipocytes, Animals, Weight Gain/physiology, Cells, Cultured, Uncoupling Protein 1, Mice, Knockout, Cultured, Thermogenesis, Receptor-γ, Diet, White/metabolism, High-Fat, Adipose Tissue, Gene Expression Regulation, Adipocytes/metabolism, Mitochondrial Proteins/genetics, Tumor Suppressor Protein p53/genetics, Female, Tumor Suppressor Protein p53, Transcription Factors
Dateibeschreibung: application/pdf
Zugangs-URL: https://www.physiology.org/doi/pdf/10.1152/ajpendo.00119.2015
https://pubmed.ncbi.nlm.nih.gov/26578713
https://ajpendo.physiology.org/content/ajpendo/310/2/E116.full.pdf
https://www.physiology.org/doi/10.1152/ajpendo.00119.2015
http://findresearcher.sdu.dk/portal/files/129615967/ajpendo.00119.2015.pdf
https://journals.physiology.org/doi/full/10.1152/ajpendo.00119.2015
https://pubmed.ncbi.nlm.nih.gov/26578713/
https://www.ncbi.nlm.nih.gov/pubmed/26578713
https://findresearcher.sdu.dk:8443/ws/files/129615967/ajpendo.00119.2015.pdf -
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Autoren: et al.
Quelle: Nature
Schlagwörter: 0301 basic medicine, DNA Copy Number Variations, Evolution, Ion Channels/genetics, Octopodiformes, Transcription Factors/genetics, DNA Copy Number Variations/genetics, Nervous System, Article, Ion Channels, Evolution, Molecular, 03 medical and health sciences, RNA Editing/genetics, Species Specificity, Animal Structures/anatomy & histology, Animals, Octopodiformes/anatomy & histology, RNA, Messenger, 14. Life underwater, 106001 Allgemeine Biologie, Phylogeny, 0303 health sciences, Genome, Cadherins/genetics, Decapodiformes/genetics, Decapodiformes, Molecular, Animal Structures, Zinc Fingers, Genomics, Cadherins, 3. Good health, 106001 General biology, DNA Transposable Elements/genetics, Organ Specificity, DNA Transposable Elements, Genome/genetics, Nervous System/anatomy & histology, RNA, Messenger/genetics, RNA Editing, Transcription Factors
Zugangs-URL: https://www.nature.com/articles/nature14668.pdf
https://pubmed.ncbi.nlm.nih.gov/26268193
https://www.nature.com/articles/nature14668
http://europepmc.org/abstract/MED/26268193
https://www.nature.com/nature/journal/v524/n7564/fig_tab/nature14668_T2.html
https://www.nature.com/articles/nature14668.pdf
https://facultyopinions.com/prime/725718447
https://ui.adsabs.harvard.edu/abs/2015Natur.524..220A/abstract -
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Autoren: et al.
Quelle: Proceedings of the National Academy of Sciences
Schlagwörter: 0301 basic medicine, Rna, Small Interfering - Genetics - Metabolism, Patch-Clamp Techniques, Oocytes - Cytology - Physiology, Virus Replication, Ion Channels, Cell Line, Viroporin Proteins, Open Reading Frames, Viral Proteins, Xenopus laevis, 03 medical and health sciences, Viral Envelope Proteins, Xenopus Laevis, Ion Channels - Genetics - Metabolism, Animals, Humans, RNA, Small Interfering, Recombinant Proteins - Genetics - Metabolism, Potassium - Metabolism, Multidisciplinary, Viral Proteins - Genetics - Metabolism, Recombinant Proteins, 3. Good health, Severe acute respiratory syndrome-related coronavirus, Oocytes, Potassium, Sars Virus - Genetics - Metabolism
Zugangs-URL: https://www.pnas.org/content/pnas/103/33/12540.full.pdf
https://pubmed.ncbi.nlm.nih.gov/16894145
https://www.pnas.org/content/103/33/12540.full.pdf
https://pubmed.ncbi.nlm.nih.gov/16894145/
https://pure.mpg.de/pubman/faces/ViewItemOverviewPage.jsp?itemId=item_2080539
https://www.pnas.org/content/pnas/103/33/12540.full.pdf
https://www.ncbi.nlm.nih.gov/pubmed/16894145
https://ui.adsabs.harvard.edu/abs/2006PNAS..10312540L/abstract
http://hdl.handle.net/10722/157455
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