Search Results - "Signal Transduction genetics"
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1
Authors: et al.
Source: Diabetologia
Sørensen, K V, Justesen, J M, Ängquist, L, Bork-Jensen, J, Hartmann, B, Jørgensen, N R, Rungby, J, Sørensen, H T, Vaag, A, Nielsen, J S, Holst, J J, Pedersen, O, Linneberg, A, Hansen, T & Grarup, N 2025, ' Rare MTNR1B variants causing diminished MT2 signalling associate with elevated HbA 1c levels but not with type 2 diabetes ', Diabetologia, vol. 68, pp. 1016–1030 . https://doi.org/10.1007/s00125-025-06381-y
Sørensen, K V, Justesen, J M, Ängquist, L, Bork-Jensen, J, Hartmann, B, Jørgensen, N R, Rungby, J, Sørensen, H T, Vaag, A, Nielsen, J S, Holst, J J, Pedersen, O, Linneberg, A, Hansen, T & Grarup, N 2025, 'Rare MTNR1B variants causing diminished MT2 signalling associate with elevated HbA 1c levels but not with type 2 diabetes', Diabetologia, vol. 68, no. 5, pp. 1016-1030. https://doi.org/10.1007/s00125-025-06381-ySubject Terms: Male, Type 2/genetics, Adult, Genotype, Melatonin receptor type 2, Glycated Hemoglobin/metabolism, rs10830963, Article, Diabetes Mellitus, Humans, HbA, Polymorphism, Aged, Genetic association study, Melatonin, Blood Glucose/metabolism, MTNR1B, MT2, Type 2 diabetes, Single Nucleotide, Middle Aged, Cross-Sectional Studies, Phenotype, Case-Control Studies, Signal Transduction/genetics, Female, Recall-by-genotype investigation, MT2/genetics, Variants impairing receptor function, Receptor
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/40064676
https://curis.ku.dk/ws/files/448096096/Rare_MTNR1B_variants.pdf
http://www.scopus.com/inward/record.url?scp=86000730121&partnerID=8YFLogxK
https://pure.au.dk/portal/en/publications/9bc98620-986e-4b9b-bc40-a8760ba1dfa2
https://doi.org/10.1007/s00125-025-06381-y -
2
Authors: et al.
Source: Nucleic Acids Res
Subject Terms: Janus Kinase 2/genetics, RNA Processing, RNA Splicing, Immunity, Post-Transcriptional, Innate/genetics, Serine-Arginine Splicing Factors/genetics, 106023 Molecular biology, Introns, HEK293 Cells, 106023 Molekularbiologie, SDG 3 - Good Health and Well-being, SDG 3 – Gesundheit und Wohlergehen, RNA and RNA-protein complexes, Humans, Signal Transduction/genetics, RNA, Messenger/genetics, Animals, CRISPR-Cas Systems, Interferon-gamma/metabolism
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3
Authors: et al.
Source: Eur J Immunol
Robertson, N, Joshi, A, Ritchie, F, Schim van der Loeff, I, Royan, D, Duker, A L, Rice, G I, Bober, M B, Mansour, S, Campbell, D I, Brennan, M, Brown, L, Jones, L, Williams, E, Jackson, A P & Crow, Y J 2025, 'Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling', European journal of immunology, vol. 55, no. 5, e202451518. https://doi.org/10.1002/eji.202451518 -
4
Authors: et al.
Source: Nat Commun
Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona))
Dipòsit Digital de la UB
instname
Nature Communications, Vol 16, Iss 1, Pp 1-17 (2025)
Nature communications, vol. 16, no. 1, pp. 2631Subject Terms: Saccharomyces cerevisiae Proteins, Saccharomyces cerevisiae/genetics, Saccharomyces cerevisiae/metabolism, Saccharomyces cerevisiae/physiology, Gene Expression Regulation, Fungal, Transcriptome/genetics, Adaptation, Physiological/genetics, Stress, Physiological/genetics, Saccharomyces cerevisiae Proteins/genetics, Saccharomyces cerevisiae Proteins/metabolism, Transcription, Genetic, Gene Expression Profiling, Signal Transduction/genetics, Osmotic Pressure, RNA-Seq, Genetic transcription, Science, Saccharomyces cerevisiae, Adaptation, Physiological, Article, Estrès (Fisiologia), Transcripció genètica, Stress, Physiological, Transcriptome, Stress (Physiology), Signal Transduction
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/40097446
https://hdl.handle.net/2445/219972
https://doaj.org/article/c3e42b85d2ea40f3af93523aa222cff2
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C95B1063E3EA8
https://serval.unil.ch/notice/serval:BIB_C95B1063E3EA
https://serval.unil.ch/resource/serval:BIB_C95B1063E3EA.P001/REF.pdf -
5
Authors: et al.
Contributors: et al.
Source: Physiologia Plantarum. 177
Subject Terms: Arabidopsis thaliana, Indoleacetic Acids, Arabidopsis Proteins, Arabidopsis, Nuclear Proteins, Plant Roots, Naphthaleneacetic Acids, [SDV] Life Sciences [q-bio], Metabolism, Plant Growth Regulators, Gene Expression Regulation, Plant, Signal Transduction/genetics, Auxin, [SDV.BV] Life Sciences [q-bio]/Vegetal Biology, Plant roots growth and development, 2,4-Dichlorophenoxyacetic Acid, Signal Transduction
Access URL: https://pubmed.ncbi.nlm.nih.gov/40133999
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6
Authors: et al.
Source: Signal Transduct Target Ther
Signal Transduction and Targeted Therapy, Vol 9, Iss 1, Pp 1-60 (2024)Subject Terms: Heart Defects, Congenital, Pluripotent Stem Cells, 0301 basic medicine, 0303 health sciences, QH301-705.5, Heart, Review Article, 03 medical and health sciences, Signal Transduction/genetics [MeSH], 692/4019, Humans [MeSH], review-article, Heart/growth, Animals [MeSH], Pluripotent Stem Cells/metabolism [MeSH], Heart Defects, Congenital/genetics [MeSH], Heart Defects, Congenital/metabolism [MeSH], Heart Defects, Congenital/pathology [MeSH], Medicine, Humans, Animals, Biology (General), Signal Transduction
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7
Authors: et al.
Contributors: et al.
Source: Brain
Levitin, M O, Rawlins, L E, Sanchez-Andrade, G, Arshad, O A, Collins, S C, Sawiak, S J, Iffland, P H, Andersson, M H L, Bupp, C, Cambridge, E L, Coomber, E L, Ellis, I, Herkert, J C, Ironfield, H, Jory, L, Kretz, P F, Kant, S G, Neaverson, A, Nibbeling, E, Rowley, C, Relton, E, Sanderson, M, Scott, E M, Stewart, H, Shuen, A Y, Schreiber, J, Tuck, L, Tonks, J, Terkelsen, T, van Ravenswaaij-Arts, C, Vasudevan, P, Wenger, O, Wright, M, Day, A, Hunter, A, Patel, M, Lelliott, C J, Crino, P B, Yalcin, B, Crosby, A, Baple, E L, Logan, D W, Hurles, M E & Gerety, S S 2023, 'Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes', Brain, vol. 146, no. 11, pp. 4766-4783. https://doi.org/10.1093/brain/awad231Subject Terms: TOR Serine-Threonine Kinases/metabolism, Mechanistic Target of Rapamycin Complex 1, macrocephaly, Mice, Cognition, Microfilament Proteins/genetics, Brain/metabolism, Humans, Animals, Signal Transduction/genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, iPSC, animal model, neurodevelopmental disorders, TOR Serine-Threonine Kinases, Microfilament Proteins, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Brain, recessive, 3. Good health, advisor to Astra-Zeneca, mTOR, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Original Article, Mechanistic Target of Rapamycin Complex 1/metabolism, [SDV.NEU.SC] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Signal Transduction
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/37437211
https://research.rug.nl/en/publications/50ef2d4e-82de-4fa9-a525-d8eb3c8ce1d8
https://hdl.handle.net/11370/50ef2d4e-82de-4fa9-a525-d8eb3c8ce1d8
https://doi.org/10.1093/brain/awad231
https://pure.au.dk/portal/en/publications/b1b4e32d-066a-41f0-9436-c69a0922b12a
https://hdl.handle.net/1887/3731602
http://www.scopus.com/inward/record.url?scp=85176495009&partnerID=8YFLogxK
https://doi.org/10.1093/brain/awad231
https://pure.au.dk/portal/en/publications/b1b4e32d-066a-41f0-9436-c69a0922b12a
https://pure.au.dk/ws/files/401873637/awad231.pdf -
8
Authors: et al.
Contributors: et al.
Subject Terms: Epigenetics, Epigenetic Memory, Epigenetic Repression, Metabolic Reprogramming/drug effects, Cellular Reprogramming/drug effects, Cellular Reprogramming/genetics, Cellular Reprogramming Techniques/methods, Metabolic Reprogramming, Metabolic Reprogramming/genetics, Triple-Negative Breast Cancer, Breast cancer, Signal processing, Signal Transduction, Signal Transduction/genetics, cancer stem cells, metastatic, tumor reduction
Relation: https://zenodo.org/records/15278175; oai:zenodo.org:15278175; https://doi.org/10.5281/zenodo.15278175
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9
Authors: et al.
Contributors: et al.
Subject Terms: Epigenetics, Epigenetic Memory, Epigenetic Repression, Metabolic Reprogramming/drug effects, Cellular Reprogramming/drug effects, Cellular Reprogramming/genetics, Cellular Reprogramming Techniques/methods, Metabolic Reprogramming, Metabolic Reprogramming/genetics, Triple-Negative Breast Cancer, Breast cancer, Signal processing, Signal Transduction, Signal Transduction/genetics
Relation: https://zenodo.org/records/15277781; oai:zenodo.org:15277781; https://doi.org/10.5281/zenodo.15277781
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10
Authors:
Source: Signal Transduct Target Ther
Signal Transduction and Targeted Therapy, Vol 9, Iss 1, Pp 1-3 (2024)
Signal transduction and targeted therapy 9, 252 (2024). doi:10.1038/s41392-024-01967-1Subject Terms: Male, QH301-705.5, Neutrophils, Apolipoprotein E4, Research Highlight, Female [MeSH], Signal Transduction/genetics [MeSH], Tauopathies/pathology [MeSH], Humans [MeSH], Neutrophils/metabolism [MeSH], Tauopathies/metabolism [MeSH], Animals [MeSH], Microglia/metabolism [MeSH], research-highlight, Microglia/pathology [MeSH], Male [MeSH], Apolipoprotein E4/metabolism [MeSH], Alzheimer Disease/genetics [MeSH], Apolipoprotein E4/genetics [MeSH], 631/378/1689, Alzheimer Disease/metabolism [MeSH], 692/4017, Alzheimer Disease/pathology [MeSH], Tauopathies/genetics [MeSH], Tauopathies, Alzheimer Disease, Medicine, Humans, Animals, Female, Microglia, Biology (General), Signal Transduction
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11
Authors:
Source: Signal Transduct Target Ther
Signal Transduction and Targeted Therapy, Vol 9, Iss 1, Pp 1-2 (2024)Subject Terms: Neurons, QH301-705.5, Membrane Proteins, Research Highlight, Nucleotidyltransferases, Lysosomal Storage Diseases, Disease Progression, Medicine, Humans, Animals, Biology (General), Membrane Proteins/genetics [MeSH], Signal Transduction/genetics [MeSH], Disease Progression [MeSH], Lysosomal Storage Diseases/metabolism [MeSH], Humans [MeSH], Lysosomal Storage Diseases/genetics [MeSH], Neurons/metabolism [MeSH], Lysosomal Storage Diseases/pathology [MeSH], Nucleotidyltransferases/genetics [MeSH], Animals [MeSH], research-highlight, 631/378/340, Nucleotidyltransferases/metabolism [MeSH], Membrane Proteins/metabolism [MeSH], Neurons/pathology [MeSH], 631/250/371, Signal Transduction
File Description: pdf
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12
Authors: et al.
Source: Signal Transduct Target Ther
Signal Transduction and Targeted Therapy, Vol 9, Iss 1, Pp 1-51 (2024)Subject Terms: 0301 basic medicine, Signal Transduction/genetics [MeSH], Protein Kinase Inhibitors/pharmacology [MeSH], Receptor Protein-Tyrosine Kinases/antagonists, Humans [MeSH], Review Article, Neoplasms/genetics [MeSH], Protein Kinase Inhibitors/therapeutic use [MeSH], 631/535, Molecular Targeted Therapy [MeSH], Receptor Protein-Tyrosine Kinases/genetics [MeSH], Neoplasms/drug therapy [MeSH], review-article, Signal Transduction/drug effects [MeSH], Receptor Protein-Tyrosine Kinases/metabolism [MeSH], 692/4028/67/68, Neoplasms/enzymology [MeSH], 0303 health sciences, QH301-705.5, Receptor Protein-Tyrosine Kinases, 3. Good health, 03 medical and health sciences, Neoplasms, Medicine, Humans, Molecular Targeted Therapy, Biology (General), Protein Kinase Inhibitors, Signal Transduction
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13
Authors: et al.
Source: Signal Transduct Target Ther
Signal Transduction and Targeted Therapy, Vol 9, Iss 1, Pp 1-13 (2024)Subject Terms: STAT3 Transcription Factor, 0301 basic medicine, 0303 health sciences, QH301-705.5, Interleukins, Cell Differentiation, LIM Domain Proteins, CD8-Positive T-Lymphocytes, Signal Transduction/genetics [MeSH], STAT3 Transcription Factor/metabolism [MeSH], Humans [MeSH], Adaptor Proteins, Signal Transducing/immunology [MeSH], STAT3 Transcription Factor/immunology [MeSH], Cell Differentiation/genetics [MeSH], Cell Differentiation/immunology [MeSH], Animals [MeSH], Interleukins/immunology [MeSH], Signal Transduction/immunology [MeSH], Mice [MeSH], Adaptor Proteins, Signal Transducing/genetics [MeSH], Article, Interleukins/genetics [MeSH], 631/250/580, LIM Domain Proteins/immunology [MeSH], 631/250/251, STAT3 Transcription Factor/genetics [MeSH], CD8-Positive T-Lymphocytes/immunology [MeSH], LIM Domain Proteins/genetics [MeSH], article, Mice, 03 medical and health sciences, Medicine, Animals, Humans, Biology (General), Adaptor Proteins, Signal Transducing, Signal Transduction
File Description: application/pdf
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14
Authors:
Source: Signal Transduct Target Ther
Signal Transduction and Targeted Therapy, Vol 9, Iss 1, Pp 1-3 (2024)Subject Terms: QH301-705.5, GTP-Binding Proteins, Medicine, Humans, Animals, Guanosine Triphosphate, Biology (General), GTP-Binding Proteins/metabolism [MeSH], research-highlight, Signal Transduction/genetics [MeSH], Research Highlight, Protein Binding [MeSH], Humans [MeSH], Guanosine Triphosphate/genetics [MeSH], Animals [MeSH], GTP-Binding Proteins/genetics [MeSH], Guanosine Triphosphate/metabolism [MeSH], 631/535, 631/1647, Signal Transduction, Protein Binding
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15
Authors: et al.
Contributors: et al.
Source: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
Am. J. Hum. Genet. 110, 146-160 (2023)Subject Terms: 0301 basic medicine, NEDDYLATION, Proteasome Endopeptidase Complex, NEDD8 Protein, POST-TRANSLATIONAL PROTEIN MODIFICATION, UBIQUITINATION, ubiquitination, PHENOTYPIC SPECIFICITY, 03 medical and health sciences, neddylation, OCURRENCE RATIO, post-translational protein modification, Lymphopenia/genetics, Intellectual Disability, Lymphopenia, Genetics, Journal Article, Humans, Genetics(clinical), PROTEASOME, 0303 health sciences, NEURODEGENERATION, neurodegeneration, NF-kappa B, ocurrence ratio, lymphopenia, phenotypic specificity, Intellectual Disability/genetics, 3. Good health, Proteasome Endopeptidase Complex/metabolism, proteasome, NF-kappa B/metabolism, Signal Transduction/genetics, Nae1, Neddylation, Neurodegeneration, Ocurrence Ratio, Phenotypic Specificity, Post-translational Protein Modification, Proteasome, Ubiquitination, NEDD8 Protein/genetics, NAE1, LYMPHOPENIA, Signal Transduction
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/36608681
https://research.rug.nl/en/publications/7a4cfe00-a044-4183-8238-f4462c41ca55
https://hdl.handle.net/11370/7a4cfe00-a044-4183-8238-f4462c41ca55
https://doi.org/10.1016/j.ajhg.2022.12.003
https://dspace.library.uu.nl/handle/1874/448262
http://hdl.handle.net/11336/218482
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154 -
16
Authors:
Source: Signal Transduct Target Ther
Signal Transduction and Targeted Therapy, Vol 9, Iss 1, Pp 1-2 (2024)Subject Terms: QH301-705.5, Macrophages, Ceramides, Colitis, Lipid Metabolism, Research Highlight, Interleukin-10, Mice, 692/4020/1503, Ceramides/genetics [MeSH], Interleukin-10/genetics [MeSH], Signal Transduction/genetics [MeSH], Colitis/pathology [MeSH], Humans [MeSH], Macrophages/metabolism [MeSH], Ceramides/metabolism [MeSH], Animals [MeSH], Interleukin-10/metabolism [MeSH], 631/250/256, research-highlight, Macrophages/immunology [MeSH], Mice [MeSH], Colitis/metabolism [MeSH], Homeostasis/genetics [MeSH], Lipid Metabolism/genetics [MeSH], Colitis/genetics [MeSH], Medicine, Animals, Humans, Homeostasis, Biology (General), Signal Transduction
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17
Authors: et al.
Source: Ann Rheum Dis
Saevarsdottir, S, Stefansdottir, L, Sulem, P, Thorleifsson, G, Ferkingstad, E, Rutsdottir, G, Glintborg, B, Westerlind, H, Grondal, G, Loft, I C, Sorensen, S B, Lie, B A, Brink, M, Ärlestig, L, Arnthorsson, A O, Baecklund, E, Banasik, K, Bank, S, Bjorkman, L I, Ellingsen, T, Erikstrup, C, Frei, O, Gjertsson, I, Gudbjartsson, D F, Gudjonsson, S A, Halldorsson, G H, Hendricks, O, Hillert, J, Hogdall, E, Jacobsen, S, Jensen, D V, Jonsson, H, Kastbom, A, Kockum, I, Kristensen, S, Kristjansdottir, H, Larsen, M H, Linauskas, A, Hauge, E-M, Loft, A G, Ludviksson, B R, Lund, S H, Markusson, T, Masson, G, Melsted, P, Moore, K H S, Munk, H, Nielsen, K R, Norddahl, G L, Oddsson, A, Olafsdottir, T A, Olason, P I, Olsson, T, Ostrowski, S R, Hørslev-Petersen, K, Rognvaldsson, S, Sanner, H, Silberberg, G N, Stefansson, H, Sørensen, E, Sørensen, I J, Turesson, C, Bergman, T, Alfredsson, L, Kvien, T K, Brunak, S, Steinsson, K, Andersen, V, Andreassen, O A, Rantapää-Dahlqvist, S, Hetland, M L, Klareskog, L, Askling, J, Padyukov, L, Pedersen, O B, Thorsteinsdottir, U, Jonsdottir, I, Stefansson, K, Members of the DBDS Genomic Consortium & Nyegaard, M 2022, 'Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset', Annals of the Rheumatic Diseases, vol. 81, no. 8, 221754, pp. 1085-1095. https://doi.org/10.1136/annrheumdis-2021-221754
Saevarsdottir, S, Stefansdottir, L, Sulem, P, Thorleifsson, G, Ferkingstad, E, Rutsdottir, G, Glintborg, B, Westerlind, H, Grondal, G, Loft, I C, Sorensen, S B, Lie, B A, Brink, M, Arlestig, L, Arnthorsson, A O, Baecklund, E, Banasik, K, Bank, S, Bjorkman, L I, Ellingsen, T, Erikstrup, C, Frei, O, Gjertsson, I, Gudbjartsson, D F, Gudjonsson, S A, Halldorsson, G H, Hendricks, O, Hillert, J, Hogdall, E, Jacobsen, S, Jensen, D V, Jonsson, H, Kastbom, A, Kockum, I, Kristensen, S, Kristjansdottir, H, Larsen, M H, Linauskas, A, Hauge, E M, Loft, A G, Ludviksson, B R, Lund, S H, Markusson, T, Masson, G, Melsted, P, Moore, K H S, Munk, H, Nielsen, K R, Norddahl, G L, Oddsson, A, DBDS Genomic Consortium, The Danish RA Genetics Working Group & The Swedish Rheumatology Quality Register Biobank Study Group (SRQb) 2022, 'Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset', Annals of the Rheumatic Diseases, vol. 81, no. 8, pp. 1085-1095. https://doi.org/10.1136/annrheumdis-2021-221754
Saevarsdottir, S, Stefansdottir, L, Sulem, P, Thorleifsson, G, Ferkingstad, E, Rutsdottir, G, Glintborg, B, Westerlind, H, Grondal, G, Loft, I C, Sorensen, S B, Lie, B A, Brink, M, Ärlestig, L, Arnthorsson, A O, Baecklund, E, Banasik, K, Bank, S, Bjorkman, L I, Ellingsen, T, Erikstrup, C, Frei, O, Gjertsson, I, Gudbjartsson, D F, Gudjonsson, S A, Halldorsson, G H, Hendricks, O, Hillert, J, Hogdall, E, Jacobsen, S, Jensen, D V, Jonsson, H, Kastbom, A, Kockum, I, Kristensen, S, Kristjansdottir, H, Larsen, M H, Linauskas, A, Hauge, E-M, Loft, A G, Ludviksson, B R, Lund, S H, Ostrowski, S R, Sørensen, E, Sørensen, I J, Brunak, S, Andersen, V, Hetland, M L, Askling, J, Pedersen, O B & Members of the DBDS Genomic Consortium 2022, ' Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset ', Annals of the Rheumatic Diseases, vol. 81, no. 8, pp. 1085-1095 . https://doi.org/10.1136/annrheumdis-2021-221754
Annals of the Rheumatic DiseasesSubject Terms: rheumatoid arthritis, Proteomics, 0301 basic medicine, autoantibodies, Janus Kinases/genetics, polymorphism, genetic, Rheumatoid Arthritis, Biochemistry, polymorphism, Medical Genetics and Genomics, Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics, Arthritis, Rheumatoid, 03 medical and health sciences, genetic, Humans, Genetic Predisposition to Disease, Biokemi, Molecular Biology, Rheumatology and Autoimmunity, Medicinsk genetik, Janus Kinases, Non-Receptor Type 22/genetics, Reumatologi och inflammation, 0303 health sciences, Molekylärbiologi, Arthritis, Genetic Predisposition to Disease/genetics, Klinisk medicin, Rheumatoid/genetics, Interferon-alpha, Protein Tyrosine Phosphatase, Non-Receptor Type 22, Arthritis, Rheumatoid/genetics, Medicinsk genetik och genomik, STAT Transcription Factors/genetics, 3. Good health, STAT Transcription Factors, Signal Transduction/genetics, Protein Tyrosine Phosphatase, Clinical Medicine, Medical Genetics, Genome-Wide Association Study, Signal Transduction
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/35470158
https://vbn.aau.dk/ws/files/482474986/1085.full.pdf
https://doi.org/10.1136/annrheumdis-2021-221754
http://www.scopus.com/inward/record.url?scp=85130778612&partnerID=8YFLogxK
https://vbn.aau.dk/da/publications/239bab16-e607-4d16-aa5d-b21a089d284f
https://pure.au.dk/ws/files/335560981/Multiomics_analysis_of_rheumatoid_arthritis_yields_sequence_variants_that_have_large_effects_on_risk_of_the_seropositive_subset.pdf
https://curis.ku.dk/ws/files/314910889/1085.full.pdf
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-185024
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-203215
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-485933
https://hdl.handle.net/11250/3026537 -
18
Authors: et al.
Contributors: et al.
Source: Mol Psychiatry
Subject Terms: Male, Adult, 0301 basic medicine, Adolescent, Receptor, Metabotropic Glutamate 5, Receptors, Metabotropic Glutamate, Article, 03 medical and health sciences, Intellectual Disability, Genetics, Humans, Animals, Child, Paraplegia, Neurons, 0303 health sciences, Homozygote, Pedigree, [SDV] Life Sciences [q-bio], HEK293 Cells, Signal Transduction/genetics [MeSH], Synapses/metabolism [MeSH], 96, 13, Receptors, Metabotropic Glutamate/metabolism [MeSH], Paraplegia/genetics [MeSH], Receptors, Metabotropic Glutamate/genetics [MeSH], 13/51, Male [MeSH], 96/44, Child [MeSH], 45, Homozygote [MeSH], Mutation/genetics [MeSH], Synapses/genetics [MeSH], Adolescent [MeSH], Female [MeSH], 631/208, Adult [MeSH], Humans [MeSH], Neurons/metabolism [MeSH], Paraplegia/metabolism [MeSH], 9/74, Intellectual Disability/genetics [MeSH], Receptors, Glutamate/metabolism [MeSH], Receptor, Metabotropic Glutamate 5/metabolism [MeSH], Animals [MeSH], 9/10, Pedigree [MeSH], 82, HEK293 Cells [MeSH], 9, 45/23, 82/29, Receptor, Metabotropic Glutamate 5/genetics [MeSH], Receptors, Glutamate/genetics [MeSH], 631/378, article, Receptors, Glutamate, Synapses, Mutation, Female, Neuroscience, Signal Transduction
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/38418578
https://hal.science/hal-04749709v1
https://hal.science/hal-04749709v1/document
https://doi.org/10.1038/s41380-024-02469-w
https://hal.science/hal-03871407v2
https://doi.org/10.1038/s41380-024-02469-w
https://hal.science/hal-03871407v2/document
https://repository.publisso.de/resource/frl:6523119 -
19
Authors: et al.
Source: Knol, M J, Poot, R A, Evans, T E, Satizabal, C L, Mishra, A, Sargurupremraj, M, van der Auwera, S, Duperron, M-G, Jian, X, Hostettler, I C, van Dam-Nolen, D H K, Lamballais, S, Pawlak, M A, Lewis, C E, Carrion-Castillo, A, van Erp, T G M, Reinbold, C S, Shin, J, Scholz, M, Håberg, A K, Kämpe, A, Li, G H Y, Avinun, R, Atkins, J R, Hsu, F-C, Amod, A R, Lam, M, Dalvie, S, Haworth, S, Shapland, C Y & St Pourcain, M U B & Adams, H H H 2024, 'Genetic variants for head size ....
Subject Terms: Humans, Genome-Wide Association Study, Head/anatomy & histology, Neoplasms/genetics, Female, Male, Polymorphism, Single Nucleotide/genetics, Genetic Variation, Organ Size/genetics, Signal Transduction/genetics, Adult, Genetic Predisposition to Disease
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20
Authors: et al.
Subject Terms: Animals, Humans, Mice, Caenorhabditis elegans/genetics/metabolism, Carrier Proteins/genetics, Down-Regulation, Kinesins/genetics/metabolism, NIH 3T3 Cells, Osteogenesis Imperfecta, Proteomics, Signal Transduction/genetics, TOR Serine-Threonine Kinases/genetics/metabolism
Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/37934770/; Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, et al. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023;19(11):e1011005.; PLoS genetics; PMC10656020; https://hdl.handle.net/11287/623078
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