Výsledky vyhledávání - "Signal Transducing/genetics"

Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis

Autoři: Hellmann, Carlotta Wohlgemuth, Kai Pennekamp, Petra a další

Zdroj: Pediatr Nephrol

Témata: Male, 0301 basic medicine, 0303 health sciences, Adolescent, Infant, Proteins, Epithelial Cells, Kidney Diseases, Cystic, Cytoskeletal Proteins, 03 medical and health sciences, Microscopy, Fluorescence, Child, Preschool, Humans, Feasibility Studies, Original Article, Female, Child, Adaptor Proteins, Signal Transducing/metabolism [MeSH], Microscopy, Fluorescence [MeSH], Kidney Diseases, Cystic/genetics [MeSH], Kidney Diseases, Cystic/pathology [MeSH], Kidney Diseases, Cystic/congenital [MeSH], Epithelial Cells/metabolism [MeSH], Cytoskeletal Proteins/metabolism [MeSH], Feasibility Studies [MeSH], Infant [MeSH], Male [MeSH], Cytoskeletal Proteins/genetics [MeSH], Child [MeSH], Adolescent [MeSH], Female [MeSH], NPHP1, Proteins [MeSH], Humans [MeSH], Kidney Diseases, Cystic/metabolism [MeSH], Transition zone, Adaptor Proteins, Signal Transducing/genetics [MeSH], Renal ciliopathies, Nephronophthisis, NPHP4, Kidney Diseases, Cystic/diagnosis [MeSH], Immunofluorescence, Child, Preschool [MeSH], Adaptor Proteins, Signal Transducing

Popis souboru: pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39098869
https://repository.publisso.de/resource/frl:6495726

Biologic and Clinical Analysis of Childhood Gamma Delta T-ALL Identifies LMO2/STAG2 Rearrangements as Extremely High Risk

Autoři: Shunsuke Kimura Chun Shik Park Lindsey E. Montefiori a další

Zdroj: Cancer Discovery. 14:1838-1859

Témata: Cell Cycle Proteins/genetics, Male, Gene Rearrangement, 2. Zero hunger, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics, Signal Transducing/genetics, Adaptor Proteins, Infant, Cell Cycle Proteins, LIM Domain Proteins/genetics, LIM Domain Proteins, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, 3. Good health, Acute lymphoblastic leukemia - T cell receptor (yo T-ALL) - children under three years of age - genetic drivers, Child, Preschool, Proto-Oncogene Proteins, Humans, Female, Preschool, Child, T-ALL, infants, genomics, Adaptor Proteins, Signal Transducing

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38916500
https://ruj.uj.edu.pl/handle/item/419231
https://hdl.handle.net/11585/980197
https://doi.org/10.1158/2159-8290.CD-23-1452
https://aacrjournals.org/cancerdiscovery/article-abstract/14/10/1838/748604/Biologic-and-Clinical-Analysis-of-Childhood-Gamma

Missense variants in FRS3 affect body mass index in populations of diverse ancestries

Autoři: Andrea B. Jonsdottir Gardar Sveinbjornsson Rosa B. Thorolfsdottir a další

Zdroj: Nat Commun
Nature Communications, Vol 16, Iss 1, Pp 1-16 (2025)
Jonsdottir, A B, Sveinbjornsson, G, Thorolfsdottir, R B, Tamlander, M, Tragante, V, Olafsdottir, T, Rognvaldsson, S, Sigurdsson, A, Eggertsson, H P, Aegisdottir, H M, Arnar, D O, Banasik, K, Beyter, D, Bjarnason, R G, Bjornsdottir, G, Brunak, S, Topholm Bruun, M, Dowsett, J, Einarsson, E, Einarsson, G, Erikstrup, C, Fridriksdottir, R, Ghouse, J, Gretarsdottir, S, Halldorsson, G H, Hansen, T, Helgadottir, A, Holm, P C, Ivarsdottir, E V, Iversen, K K, Jensen, B A, Jonsdottir, I, Knight, S, Knowlton, K U, Kristmundsdottir, S, Larusdottir, A E, Magnusson, O T, Masson, G, Melsted, P, Mikkelsen, C, Moore, K H S, Oddsson, A, Olason, P I, Palsson, F, Pedersen, O B, Schwinn, M, Sigurdsson, E L, Skaftason, A, Stefansdottir, L, Stefansson, H, Steingrimsdottir, T, Sturluson, A, Styrkarsdottir, U, Sørensen, E, Teitsdottir, U D, Thorgeirsson, T E, Thorisson, G A, Thorsteinsdottir, U, Ulfarsson, M O, Ullum, H, Vikingsson, A, Walters, G B, Jensen, B A, Nadauld, L D, Bundgaard, H, Ostrowski, S R, Helgason, A, Halldorsson, B V, Norddahl, G L, Ripatti, S, Gudbjartsson, D F, Thorleifsson, G, Steinthorsdottir, V, Holm, H, Sulem, P, Stefansson, K & DBDS Genomic Consortium 2025, 'Missense variants in FRS3 affect body mass index in populations of diverse ancestries', Nature Communications, vol. 16, no. 1, 2694. https://doi.org/10.1038/s41467-025-57753-2
DBDS Genomic Consortium 2025, ' Missense variants in FRS3 affect body mass index in populations of diverse ancestries ', Nature Communications, vol. 16, no. 1, 2694 . https://doi.org/10.1038/s41467-025-57753-2
Jonsdottir, A B, Sveinbjornsson, G, Thorolfsdottir, R B, Tamlander, M, Tragante, V, Olafsdottir, T, Rognvaldsson, S, Sigurdsson, A, Eggertsson, H P, Aegisdottir, H M, Arnar, D O, Banasik, K, Beyter, D, Bjarnason, R G, Bjornsdottir, G, Brunak, S, Topholm Bruun, M, Dowsett, J, Einarsson, E, Einarsson, G, Erikstrup, C, Fridriksdottir, R, Ghouse, J, Gretarsdottir, S, Halldorsson, G H, Hansen, T, Helgadottir, A, Holm, P C, Ivarsdottir, E V, Iversen, K K, Jensen, B A, Jonsdottir, I, Knight, S, Knowlton, K U, Kristmundsdottir, S, Larusdottir, A E, Magnusson, O T, Masson, G, Melsted, P, Mikkelsen, C, Moore, K H S, Oddsson, A, Olason, P I, Palsson, F, Pedersen, O B, Schwinn, M, Sigurdsson, E L, Skaftason, A, Sørensen, E, Jensen, B A & DBDS Genomic Consortium 2025, 'Missense variants in FRS3 affect body mass index in populations of diverse ancestries', Nature Communications, vol. 16, no. 1, 2694. https://doi.org/10.1038/s41467-025-57753-2

Témata: Male, Signal Transducing/genetics, Science, Obesity/genetics, Mutation, Missense, Black People, Asian People/genetics, Polymorphism, Single Nucleotide, Article, White People, Body Mass Index, trkB/genetics, Asian People, Humans, Receptor, trkB, Genetic Predisposition to Disease, Obesity, Polymorphism, Alleles, Adaptor Proteins, Signal Transducing, Brain-Derived Neurotrophic Factor, Brain-Derived Neurotrophic Factor/genetics, Adaptor Proteins, Black People/genetics, Single Nucleotide, Type 4/genetics, Mutation, Melanocortin, Receptor, Melanocortin, Type 4, Female, Missense, Receptor, White People/genetics, Genome-Wide Association Study

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40133257
https://doaj.org/article/b24ecf182e4c47349175bacfde780179
https://curis.ku.dk/ws/files/446143352/s41467-025-57753-2.pdf

Clinical Relevance of ATRX/DAXX Gene Mutations and ALT in Functioning Pancreatic Neuroendocrine Tumors

Autoři: Brenna R. van ´t Veld Wenzel M. Hackeng Claudio Luchini a další

Přispěvatelé: Brenna R. van ´t Veld Wenzel M. Hackeng Claudio Luchini a další

Zdroj: Endocr Pathol

Témata: Telomere Homeostasis/genetics, X-linked Nuclear Protein, Clinical Relevance, Co-Repressor Proteins/genetics, Telomere Homeostasis, Adaptor Proteins, Signal Transducing/genetics, Molecular Chaperones/genetics, Review, Neuroendocrine Tumors/genetics, Pancreatic Neoplasms/genetics, Pancreatic Neoplasms, Neuroendocrine Tumors, Mutation, ALT, ATRX, DAXX, Insulinoma, Pancreatic neuroendocrine tumors, Prognostic biomarker, Journal Article, Humans, X-linked Nuclear Protein/genetics, Co-Repressor Proteins, Molecular Chaperones, Adaptor Proteins, Signal Transducing

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39954168
https://dspace.library.uu.nl/handle/1874/460649
https://hdl.handle.net/11562/1154989
https://doi.org/10.1007/s12022-025-09848-1

The TLR7/9 adaptors TASL and TASL2 mediate IRF5-dependent antiviral responses and autoimmunity in mouse

Autoři: Ales Drobek Léa Bernaleau Maeva Delacrétaz a další

Zdroj: Nat Commun
Nature Communications, Vol 16, Iss 1, Pp 1-17 (2025)
Nature communications, vol. 16, no. 1, pp. 967

Témata: Mice, Knockout, Membrane Glycoproteins, Terpenes, Science, Membrane Transport Proteins, Autoimmunity, Article, Immunity, Innate, Mice, Inbred C57BL, Animals, Toll-Like Receptor 7/metabolism, Toll-Like Receptor 7/genetics, Toll-Like Receptor 7/immunology, Mice, Toll-Like Receptor 9/metabolism, Toll-Like Receptor 9/genetics, Lupus Erythematosus, Systemic/immunology, Lupus Erythematosus, Systemic/genetics, Humans, Membrane Transport Proteins/metabolism, Membrane Transport Proteins/genetics, Interferon Regulatory Factors/metabolism, Interferon Regulatory Factors/genetics, Adaptor Proteins, Signal Transducing/genetics, Adaptor Proteins, Signal Transducing/metabolism, Adaptor Proteins, Signal Transducing/immunology, Lymphocytic choriomeningitis virus/immunology, Female, Disease Models, Animal, Toll-Like Receptor 7, Toll-Like Receptor 9, Interferon Regulatory Factors, Lupus Erythematosus, Systemic

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39856058
https://doaj.org/article/61bdf3960d1449b18893ccd28a75f1d1
https://serval.unil.ch/notice/serval:BIB_5CCF71D82E31
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5CCF71D82E312
https://serval.unil.ch/resource/serval:BIB_5CCF71D82E31.P001/REF.pdf

Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease

Autoři: Nicole Lafontaine Christopher J Shore Purdey J Campbell a další

Zdroj: J Clin Endocrinol Metab

Témata: Cell Cycle Proteins/genetics, Clinical Research Article, DNA methylation, Hashimoto disease, Signal Transducing/genetics, epigenome, Australia/epidemiology, Australia, Kruppel-Like Transcription Factors, Adaptor Proteins, Cell Cycle Proteins, Hashimoto Disease, DNA Methylation, Graves Disease, 3. Good health, Epigenesis, Genetic, Hashimoto Disease/genetics, Epigenome, Genetic, Graves disease, Graves Disease/genetics, Humans, Kruppel-Like Transcription Factors/genetics, Epigenesis, Adaptor Proteins, Signal Transducing

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37962983

Clinical Relevance of ATRX/DAXX Gene Mutations and ALT in Functioning Pancreatic Neuroendocrine Tumors

Autoři: van T Veld, Brenna R Hackeng, Wenzel M Luchini, Claudio a další

Přispěvatelé: van T Veld, Brenna R Hackeng, Wenzel M Luchini, Claudio a další

Témata: Adaptor Proteins, Signal Transducing/genetics, Clinical Relevance, Co-Repressor Proteins/genetics, Humans, Molecular Chaperones/genetics, Mutation, Neuroendocrine Tumors/genetics, Pancreatic Neoplasms/genetics, Telomere Homeostasis/genetics, X-linked Nuclear Protein/genetics, Journal Article, Review

Popis souboru: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/460649

Dostupnost: https://dspace.library.uu.nl/handle/1874/460649

TBK1-associated adapters TANK and AZI2 protect mice against TNF-induced cell death and severe autoinflammatory diseases

Autoři: Andrea Ujevic Daniela Knizkova Alzbeta Synackova a další

Zdroj: Nat Commun
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Nature communications, vol. 15, no. 1, pp. 10013

Témata: Male, 0301 basic medicine, gene activation, Animals, Protein Serine-Threonine Kinases/metabolism, Protein Serine-Threonine Kinases/genetics, Tumor Necrosis Factor-alpha/metabolism, Mice, Receptors, Tumor Necrosis Factor, Type I/metabolism, Receptors, Tumor Necrosis Factor, Type I/genetics, Mice, Knockout, Adaptor Proteins, Signal Transducing/metabolism, Adaptor Proteins, Signal Transducing/genetics, Receptor-Interacting Protein Serine-Threonine Kinases/metabolism, Receptor-Interacting Protein Serine-Threonine Kinases/genetics, Cell Death, Signal Transduction, Tumor Necrosis Factor alpha-Induced Protein 3/metabolism, Tumor Necrosis Factor alpha-Induced Protein 3/genetics, Inflammation/metabolism, Humans, Female, Intracellular Signaling Peptides and Proteins/metabolism, Intracellular Signaling Peptides and Proteins/genetics, Mice, Inbred C57BL, Endopeptidases, Science, necrosis-factor receptor-1, Protein Serine-Threonine Kinases, Article, 03 medical and health sciences, ikk-i, tbk1, nf-kappa-b, Tumor Necrosis Factor alpha-Induced Protein 3, Adaptor Proteins, Signal Transducing, Inflammation, 0303 health sciences, Tumor Necrosis Factor-alpha, Intracellular Signaling Peptides and Proteins, linear ubiquitin, ectodermal dysplasia, ripk1, Receptors, Tumor Necrosis Factor, Type I, Receptor-Interacting Protein Serine-Threonine Kinases, kinase-related kinases, cross-talk

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39562788
https://doaj.org/article/9b7940ea388e4264884e77c454cce6f0
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_AAB1D856DB7E3
https://serval.unil.ch/resource/serval:BIB_AAB1D856DB7E.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_AAB1D856DB7E
https://hdl.handle.net/11104/0364241

Microglia contribute to the production of the amyloidogenic ABri peptide in familial British dementia

Autoři: Arber, Charles Casey, Jackie M. Crawford, Samuel a další

Zdroj: Acta Neuropathol

Témata: Neurons, 0301 basic medicine, Original Paper, 0303 health sciences, Amyloid beta-Peptides, Induced Pluripotent Stem Cells, Adaptor Proteins, Signal Transducing/metabolism [MeSH], Dementia, Brain/pathology [MeSH], Amyloid beta-Peptides/metabolism [MeSH], Humans [MeSH], Neurons/metabolism [MeSH], Dementia/genetics [MeSH], Microglia, iPSC, Animals [MeSH], Induced Pluripotent Stem Cells/metabolism [MeSH], Alzheimer's disease, Microglia/metabolism [MeSH], Mice [MeSH], Microglia/pathology [MeSH], Adaptor Proteins, Signal Transducing/genetics [MeSH], Amyloid, Brain/metabolism [MeSH], Dementia/metabolism [MeSH], Neurons/pathology [MeSH], Familial British dementia, Dementia/pathology [MeSH], Brain, Mice, 03 medical and health sciences, Humans, Animals, Adaptor Proteins, Signal Transducing

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39546024
https://repository.publisso.de/resource/frl:6497306

MAVS signaling shapes microglia responses to neurotropic virus infection

Autoři: Gern, Olivia Luise Pavlou, Andreas Mulenge, Felix a další

Zdroj: J Neuroinflammation
Journal of Neuroinflammation, Vol 21, Iss 1, Pp 1-20 (2024)

Témata: Mice, Knockout, Adaptor Proteins, Signal Transducing/metabolism [MeSH], Virus, Mice, Inbred C57BL [MeSH], Microglia/virology [MeSH], Microglia, Encephalitis, Viral/immunology [MeSH], Cardif, Animals [MeSH], Mice, Knockout [MeSH], Encephalitis, Viral/virology [MeSH], Microglia/metabolism [MeSH], Mice [MeSH], Adaptor Proteins, Signal Transducing/genetics [MeSH], CNS, Research, Signal Transduction [MeSH], VISA, IPS-1, Cells, Cultured [MeSH], Microglia/immunology [MeSH], Vesiculovirus/immunology [MeSH], MAVS, Vesiculovirus, Mice, Inbred C57BL, Mice, Animals, Neurology. Diseases of the nervous system, Encephalitis, Viral, RC346-429, Cells, Cultured, Adaptor Proteins, Signal Transducing, Signal Transduction

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39425188
https://doaj.org/article/3a4b81cf883c496bbc455a39ca77bc0f
https://repository.publisso.de/resource/frl:6523702

Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype–phenotype correlation

Autoři: Fernando de Frutos Juan Pablo Ochoa Ana Isabel Fernández a další

Přispěvatelé: Fernando de Frutos Juan Pablo Ochoa Ana Isabel Fernández a další

Zdroj: Eur Heart J Cardiovasc Imaging
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Repisalud
Instituto de Salud Carlos III (ISCIII)

Témata: Male, Cardiomyopathy, Dilated, Imagen por Resonancia Cinemagnética, Arritmias Cardíacas, Cardiomyopathy, Dilated* / diagnostic imaging, Contrast Media, Magnetic Resonance Imaging, Cine, Gadolinium, cardiac magnetic resonance, sudden cardiac death, Ventricular Function, Left, Cardiomyopathy, Dilated* / complications, Predictive Value of Tests, Gadolinio, Humans, genetics, Masculino, Genetic Association Studies, Adaptor Proteins, Signal Transducing, Persona de Mediana Edad, Original Paper, Valor Predictivo de las Pruebas, Apoptosis Regulatory Proteins / genetics, Femenino, Stroke Volume, Arrhythmias, Cardiac, Cardiomyopathy, Dilated* / genetics, Middle Aged, Volumen Sistólico, 3. Good health, Humanos, dilated cardiomyopathy, late gadolinium enhancement, Medios de Contraste, Función Ventricular Izquierda, Adaptor Proteins, Signal Transducing / genetics, Female, Estudios de Asociación Genética, Apoptosis Regulatory Proteins

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37562008
https://fundanet.isabial.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=9776
https://hdl.handle.net/20.500.12530/97696
https://hdl.handle.net/20.500.13003/19363
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11979
https://hdl.handle.net/20.500.12530/94039
http://hdl.handle.net/20.500.12105/16391
https://hdl.handle.net/20.500.12530/117846
https://hdl.handle.net/20.500.12105/16391

LIM-domain-only 4 (LMO4) enhances CD8+ T-cell stemness and tumor rejection by boosting IL-21-STAT3 signaling

Autoři: Roland C. Schelker Jessica Fioravanti Fabio Mastrogiovanni a další

Zdroj: Signal Transduct Target Ther
Signal Transduction and Targeted Therapy, Vol 9, Iss 1, Pp 1-13 (2024)

Témata: 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

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39117617
https://doaj.org/article/feb411feca9c417783b76fb6c8d7a885
https://repository.publisso.de/resource/frl:6498505

WNT-modulating gene silencers as a gene therapy for osteoporosis, bone fracture, and critical-sized bone defects

Autoři: Oh, Won-Taek Yang, Yeon-Suk Xie, Jun a další

Přispěvatelé: Oh, Won-Taek Yang, Yeon-Suk Xie, Jun a další

Zdroj: Mol Ther

Témata: 0301 basic medicine, Signal Transducing / genetics, sclerostin, rAAV, Bone and Bones, Fractures, Bone, 03 medical and health sciences, Humans, Adaptor Proteins, Signal Transducing, critical-sized bone defect, 0303 health sciences, schnurri-3, skeletal organoid, Adaptor Proteins, Genetic Therapy, osteoporosis, Bone* / genetics, 3. Good health, Bone* / therapy, bone fracture, Osteoporosis* / therapy, osteoclast, Osteoporosis* / genetics, osteoblast, Osteoporosis, Original Article, Fractures

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/36184851

Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion

Autoři: Felipe Correa-da-Silva Jenny Carter Xin-Yuan Wang a další

Zdroj: Acta Neuropathol

Témata: 0301 basic medicine, Fornix, Carrier Proteins/genetics, Prader-Willi Syndrome/genetics psychology, Signal Transducing/genetics, Hypothalamus, Oxytocin, Mice, 03 medical and health sciences, Phagosomes, Glymphatic system, Immunosurveillance, Phagosomes [MeSH], Humans [MeSH], Microglia, Myelin, Animals [MeSH], Prader-Willi Syndrome/genetics [MeSH], Mice [MeSH], Adaptor Proteins, Signal Transducing/genetics [MeSH], Prader-Willi Syndrome/psychology [MeSH], Carrier Proteins/genetics [MeSH], Original Paper, Phenotype [MeSH], Microglia [MeSH], Humans, Animals, Adaptor Proteins, Signal Transducing, 0303 health sciences, Adaptor Proteins, Prader-Willi Syndrome/genetics, ddc, Phenotype, Carrier Proteins, Prader-Willi Syndrome

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38556574
https://cris.maastrichtuniversity.nl/en/publications/f60d0a7b-53ac-4c68-9991-bd1064bbe42d
https://doi.org/10.1007/s00401-024-02714-0
https://hdl.handle.net/20.500.11755/f5979771-1c7b-4c6b-b95b-a60452b93f5f
https://doi.org/10.1007/s00401-024-02714-0
https://pure.knaw.nl/portal/en/publications/f5979771-1c7b-4c6b-b95b-a60452b93f5f
https://pure.amsterdamumc.nl/en/publications/e0ab647f-9873-401e-adfe-cfa3daf7306b
https://doi.org/10.1007/s00401-024-02714-0
https://repository.publisso.de/resource/frl:6490564
https://mediatum.ub.tum.de/doc/1770820/document.pdf

Talin2 and KANK2 functionally interact to regulate microtubule dynamics, paclitaxel sensitivity and cell migration in the MDA-MB-435S melanoma cell line

Autoři: Marija Lončarić Nikolina Stojanović Anja Rac-Justament a další

Zdroj: Cell Mol Biol Lett
Cellular & Molecular Biology Letters, Vol 28, Iss 1, Pp 1-23 (2023)
Lončarić, M, Stojanović, N, Rac-Justament, A, Coopmans, K, Majhen, D, Humphries, J, Humphries, M & Ambriović-Ristov, A 2023, 'Talin2 and KANK2 functionally interact to regulate microtubule dynamics, paclitaxel sensitivity and cell migration in the MDA-MB-435S melanoma cell line', Cellular and Molecular Biology Letters, vol. 28, no. 1, 56. https://doi.org/10.1186/s11658-023-00473-6

Témata: Talin, Biochemistry & Molecular Biology, Integrins, Paclitaxel, Signal Transducing/genetics, Cell Line, Tumor/metabolism, Adaptor Proteins, Signal Transducing/genetics, Integrins/metabolism, Talin/genetics, Cytoskeletal Proteins/genetics, 0601 Biochemistry and Cell Biology, Microtubules, Cell Line, Cortical microtubule stabilizing complex, microtubules, Cell Movement, Cell Line, Tumor, Tumor/metabolism, Research Letter, Humans, Protein Isoforms, focal adhesion, Melanoma, Adaptor Proteins, Signal Transducing, Talin2, Talin1, QH573-671, talin2, talin1, Adaptor Proteins, cortical microtubule stabilizing complex, Actins, Cortical Microtubule Stabilizing Complex, Paclitaxel/pharmacology, Focal adhesion, Cytoskeletal Proteins, Microtubules/metabolism, Actins/metabolism, KANK1, Focal Adhesion, KANK2, Protein Isoforms/metabolism, Cytology

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37460977
https://doaj.org/article/66941f83217e498daba36fd9986d82f0
https://research.manchester.ac.uk/en/publications/b4b8c1d6-894b-4655-9117-ab8e233e732d
https://doi.org/10.1186/s11658-023-00473-6
https://cmbl.biomedcentral.com/articles/10.1186/s11658-023-00473-6
https://doi.org/10.1186/s11658-023-00473-6
https://research.manchester.ac.uk/en/publications/b4b8c1d6-894b-4655-9117-ab8e233e732d
http://www.scopus.com/inward/record.url?scp=85164992988&partnerID=8YFLogxK
https://doi.org/10.1186/s11658-023-00473-6
https://e-space.mmu.ac.uk/632760/

DAXX promotes centromeric stability independently of ATRX by preventing the accumulation of R-loop-induced DNA double-stranded breaks

Autoři: Pinto, Lia, M Pailas, Alexandros Bondarchenko, Max a další

Přispěvatelé: Pinto, Lia, M Pailas, Alexandros Bondarchenko, Max a další

Zdroj: ISSN: 0305-1048.

Témata: MESH: Adaptor Proteins, Signal Transducing / genetics, Signal Transducing / metabolism, MESH: Humans, MESH: Molecular Chaperones / genetics, MESH: Molecular Chaperones / metabolism, MESH: Nuclear Proteins / metabolism, MESH: R-Loop Structures, MESH: Transcription Factors / metabolism, MESH: X-linked Nuclear Protein / genetics, MESH: X-linked Nuclear Protein / metabolism, MESH: Centromere / metabolism, MESH: Child, MESH: Chromatin, MESH: Co-Repressor Proteins / metabolism, MESH: DNA, MESH: DNA Breaks, Double-Stranded, MESH: Histones / genetics, MESH: Histones / metabolism, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/38038252; PUBMED: 38038252; PUBMEDCENTRAL: PMC10853780

Dostupnost: https://hal.science/hal-04716990
https://hal.science/hal-04716990v1/document
https://hal.science/hal-04716990v1/file/DAXX-Pinto-2024.pdf
https://doi.org/10.1093/nar/gkad1141

NLRP1-dependent activation of Gasdermin D in neutrophils controls cutaneous leishmaniasis.

Autoři: Goris, M. Passelli, K. Peyvandi, S. a další

Zdroj: PLoS pathogens, vol. 20, no. 9, pp. e1012527

Témata: Animals, Neutrophils/metabolism, Neutrophils/immunology, Phosphate-Binding Proteins/metabolism, Mice, Leishmaniasis, Cutaneous/immunology, Cutaneous/metabolism, Cutaneous/parasitology, Pyroptosis, Intracellular Signaling Peptides and Proteins/metabolism, Intracellular Signaling Peptides and Proteins/genetics, Apoptosis Regulatory Proteins/metabolism, Inbred C57BL, Knockout, Adaptor Proteins, Signal Transducing/metabolism, Signal Transducing/genetics, Leishmania mexicana/immunology, Gasdermins

Popis souboru: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/39250503; info:eu-repo/semantics/altIdentifier/eissn/1553-7374; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7C4D97BB2E626; https://serval.unil.ch/notice/serval:BIB_7C4D97BB2E62; https://serval.unil.ch/resource/serval:BIB_7C4D97BB2E62.P001/REF.pdf

Dostupnost: https://serval.unil.ch/notice/serval:BIB_7C4D97BB2E62
https://doi.org/10.1371/journal.ppat.1012527
https://serval.unil.ch/resource/serval:BIB_7C4D97BB2E62.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7C4D97BB2E626

Basic Science and Pathogenesis

Autoři: Almeida, Claudia G Barata, Mariana Afonso Perdigão, Catarina a další

Přispěvatelé: Almeida, Claudia G Barata, Mariana Afonso Perdigão, Catarina a další

Témata: Animals, Mice, Alzheimer Disease/pathology, Tumor Suppressor Proteins/genetics, Amyloid beta-Peptides/metabolism, Adaptor Proteins, Signal Transducing/genetics, Synapses/metabolism, Neurons/metabolism, Hippocampus/metabolism, Synaptic Vesicles/metabolism, Endocytosis/physiology, Synaptosomes/metabolism, Humans, Amyloid Precursor Protein Secretases/metabolism, Aspartic Acid Endopeptidases/metabolism, Cells, Cultured, Nerve Tissue Proteins

Relation: PURE: 106066276; PubMed: 39751026; Scopus: 85214486395; http://hdl.handle.net/10362/177429; https://doi.org/10.1002/alz.087074

Dostupnost: http://hdl.handle.net/10362/177429
https://doi.org/10.1002/alz.087074

Reduced sclerostin expression in human atherosclerotic plaques links to ischemic stroke

Autoři: Burger, Fabienne Roth, Aline Mach, François a další

Zdroj: ISSN: 2047-9980 ; Journal of the American Heart Association. Cardiovascular and cerebrovascular disease, vol. 13, no. 10 (2024) e033038.

Témata: info:eu-repo/classification/ddc/616, Wnt signaling, Osteoblast‐like cells, Slerostin, Vascular calcification, Vascular smooth muscle cells, Aged, Female, Humans, Male, Middle Aged, Adaptor Proteins, Signal Transducing / metabolism, Signal Transducing / genetics, Genetic Markers, Ischemic Stroke / genetics, Ischemic Stroke / pathology, Plaque, Atherosclerotic / genetics, Atherosclerotic / pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/38726905; unige:183551

Dostupnost: https://archive-ouverte.unige.ch/unige:183551

Gab2 deficiency prevents Flt3-ITD driven acute myeloid leukemia in vivo

Autoři: Corinna Spohr Teresa Poggio Geoffroy Andrieux a další

Zdroj: Leukemia
Leukemia : the Journal of Normal and Malignant Hemopoiese ; Official Journal of the Leukemia Research Fund U.K.

Témata: 0301 basic medicine, 0303 health sciences, Receptor Protein-Tyrosine Kinases, Article, 3. Good health, Leukemia, Myeloid, Acute, Mice, 03 medical and health sciences, fms-Like Tyrosine Kinase 3, Mutation, Animals, Humans, Mutation [MeSH], Acute myeloid leukaemia, Oncogenes, Humans [MeSH], Oncogenesis, Animals [MeSH], Mice [MeSH], Adaptor Proteins, Signal Transducing/genetics [MeSH], Cell signalling, fms-Like Tyrosine Kinase 3/metabolism [MeSH], Signal Transduction [MeSH], Receptor Protein-Tyrosine Kinases/metabolism [MeSH], Leukemia, Myeloid, Acute/pathology [MeSH], Adaptor Proteins, Signal Transducing, Signal Transduction

Popis souboru: application/pdf; pdf

Přístupová URL adresa: https://www.nature.com/articles/s41375-021-01490-0.pdf
https://pubmed.ncbi.nlm.nih.gov/34903841
http://hdl.handle.net/21.11116/0000-000A-1109-9
http://hdl.handle.net/21.11116/0000-000A-ABB9-5
https://repository.publisso.de/resource/frl:6443774