Suchergebnisse - "Vascular Diseases genetics"

Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia

Autoren: Arend Bokenkamp Antonia Bouts Neeltje van der Weerd et al.

Quelle: Pediatr Nephrol

Schlagwörter: Anthropometry, Disproportionate short stature, Clinical Insights, Schimke immuno-osseous-dysplasia, Pancytopenia/etiology [MeSH], Pancytopenia/diagnosis [MeSH], Growth Disorders/etiology [MeSH], Body Height/genetics [MeSH], Osteochondrodysplasias/genetics [MeSH], Pancytopenia/genetics [MeSH], Arteriosclerosis/genetics [MeSH], Mutation, Missense [MeSH], Pulmonary Embolism/genetics [MeSH], Siblings [MeSH], DNA Helicases/genetics [MeSH], Male [MeSH], Peripheral Vascular Diseases/genetics [MeSH], Primary Immunodeficiency Diseases/diagnosis [MeSH], Child [MeSH], Nephrotic Syndrome/genetics [MeSH], Adolescent [MeSH], Humans [MeSH], Pulmonary Embolism/diagnosis [MeSH], Arteriosclerosis/pathology [MeSH], Osteochondrodysplasias/diagnosis [MeSH], Osteochondrodysplasias/pathology [MeSH], Growth Disorders/genetics [MeSH], Growth Disorders/pathology [MeSH], Primary Immunodeficiency Diseases/genetics [MeSH]

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39292251
https://repository.publisso.de/resource/frl:6523982

Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation

Autoren: Adlam, David Berrandou, Takiy-Eddine Georges, Adrien et al.

Weitere Verfasser: Adlam, David Berrandou, Takiy-Eddine Georges, Adrien et al.

Quelle: Nat Genet
Nature Genetics, vol 55, iss 6
Adlam, D, Berrandou, T E, Georges, A, Nelson, C P, Giannoulatou, E, Henry, J, Ma, L, Blencowe, M, Turley, T N, Yang, M L, Chopade, S, Finan, C, Braund, P S, Sadeg-Sayoud, I, Iismaa, S E, Kosel, M L, Zhou, X, Hamby, S E, Cheng, J, Liu, L, Tarr, I, Muller, D W M, d’Escamard, V, King, A, Brunham, L R, Baranowska-Clarke, A A, Debette, S, Amouyel, P, Olin, J W, Patil, S, Hesselson, S E, Junday, K, Kanoni, S, Aragam, K G, Butterworth, A S, Bakker, M K, Ruigrok, Y M, Tweet, M S, Gulati, R, Combaret, N, Kadian-Dodov, D, Kalman, J M, Fatkin, D, Hingorani, A D, Saw, J, Webb, T R, Hayes, S N, Yang, X, Ganesh, S K, Olson, T M, CARDIoGRAMPlusC4D, MEGASTROKE, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group & DISCO register 2023, 'Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation', Nature Genetics, vol. 55, no. 6, pp. 964-972. https://doi.org/10.1038/s41588-023-01410-1
Nature Genetics

Schlagwörter: Coronary Artery Disease/genetics, Coronary Vessel Anomalies, MEGASTROKE, Myocardial Infarction, Coronary Artery Disease, DISCO register, Vascular Diseases/genetics, Article, 3. Good health, [SDV] Life Sciences [q-bio], CARDIoGRAMPlusC4D, Humans, Female, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group, Vascular Diseases, Genome-Wide Association Study

Dateibeschreibung: application/pdf; text/xml

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37248441
https://www.repository.cam.ac.uk/handle/1810/350963
https://doi.org/10.1038/s41588-023-01410-1
https://discovery-pp.ucl.ac.uk/id/eprint/10171485/
https://escholarship.org/content/qt5mj727q4/qt5mj727q4.pdf
https://escholarship.org/uc/item/5mj727q4
http://www.scopus.com/inward/record.url?scp=85160527659&partnerID=8YFLogxK
https://pmc.ncbi.nlm.nih.gov/articles/PMC10260398/pdf/41588_2023_Article_1410.pdf
https://pure.au.dk/portal/en/publications/dde7d8b8-a834-45da-82ae-5ead729e7829
https://doi.org/10.1038/s41588-023-01410-1

A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report

Autoren: Sophia Weidler Sarah Koss Christine Wolf et al.

Quelle: Pediatr Rheumatol Online J
Pediatric Rheumatology Online Journal, Vol 22, Iss 1, Pp 1-6 (2024)

Schlagwörter: Male, 0301 basic medicine, Stimulator of interferon genes, Female [MeSH], Vascular Diseases/genetics [MeSH], Chilblain lupus, Autoinflammation, Mutation [MeSH], Humans [MeSH], Interferon Type I/genetics [MeSH], Immunologic Deficiency Syndromes [MeSH], Autoimmunity, STING-associated vasculopathy with onset in infancy, Inflammation/genetics [MeSH], Male [MeSH], Alopecia, Lung [MeSH], Interstitial lung disease, Type I interferon, Case Report, Child, Preschool [MeSH], Diseases of the musculoskeletal system, Pediatrics, RJ1-570, 03 medical and health sciences, Humans, Vascular Diseases, Lung, Inflammation, 0303 health sciences, Immunologic Deficiency Syndromes, 3. Good health, RC925-935, Child, Preschool, Interferon Type I, Mutation, Female

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38178067
https://doaj.org/article/9c3ece32fb244e11b0b443255eef6753
https://repository.publisso.de/resource/frl:6492408

Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

Autoren: Verstraeten, Aline Perik, Melanie H.A.M. Baranowska, Anna A. et al.

Weitere Verfasser: Verstraeten, Aline Perik, Melanie H.A.M. Baranowska, Anna A. et al.

Quelle: Circulation, 142, 10, pp. 1021-1024
Circulation, Vol. 142, no. 10, p. 1021-1024 (2020)
Circulation
CIRCULATION

Schlagwörter: Adult, Male, Coronary Vessel Anomalies, fibromuscular dysplasia, Systèmes cardiovasculaire & respiratoire, Sciences de la santé humaine, Vascular Diseases/genetics, 03 medical and health sciences, Radboudumc 16: Vascular damage RIHS: Radboud Institute for Health Sciences, 0302 clinical medicine, Physiology (medical), Cardiovascular & respiratory systems, Medicine and Health Sciences, Humans, genetics, Vascular Diseases, Human health sciences, Fibromuscular Dysplasia/genetics, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences, Middle Aged, Loeys-Dietz syndrome, Coronary Vessel Anomalies/genetics, Loeys-Dietz Syndrome/genetics, Mutation, Female, Human medicine, Cardiology and Cardiovascular Medicine, Vascular Diseases/congenital, coronary artery disease

Dateibeschreibung: application/pdf

Zugangs-URL: https://www.ahajournals.org/doi/pdf/10.1161/CIRCULATIONAHA.120.045946
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/225439
https://doi.org/10.1161/CIRCULATIONAHA.120.045946
https://repository.ubn.ru.nl/handle/2066/225439
http://www.ncbi.nlm.nih.gov/pubmed/32897753
https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.120.045946
https://www.narcis.nl/publication/RecordID/oai%3Acris.maastrichtuniversity.nl%3Apublications%2F77b4f110-6a53-471e-9338-97318e82617f
https://iris.univr.it/handle/11562/1024814
https://cris.maastrichtuniversity.nl/en/publications/enrichment-of-rare-variants-in-loeys-dietz-syndrome-genes-in-spon
https://repository.ubn.ru.nl//bitstream/handle/2066/225439/225439.pdf
https://hdl.handle.net/2066/225439
https://hdl.handle.net/2078.1/230280
https://hdl.handle.net/11562/1024814
https://doi.org/10.1161/CIRCULATIONAHA.120.045946
https://hdl.handle.net/10067/1719820151162165141
https://repository.uantwerpen.be/docstore/d:irua:3056
http://doi.org/10.1161/circulationaha.120.045946
https://biblio.ugent.be/publication/8732829
http://hdl.handle.net/1854/LU-8732829
https://biblio.ugent.be/publication/8732829/file/8732830

Nobiletin Prevents Trimethylamine Oxide-Induced Vascular Inflammation via Inhibition of the NF-κB/MAPK Pathways

Autoren: Shiming Li Guliang Yang Hui Zhao et al.

Weitere Verfasser: Shiming Li Guliang Yang Hui Zhao et al.

Quelle: Journal of Agricultural and Food Chemistry. 67:6169-6176

Schlagwörter: Male, 0301 basic medicine, trimethyloxamine, TMAO, Vascular Diseases/genetics, Transcription Factor RelA/immunology, Food science, Rats, Sprague-Dawley, Methylamines, 03 medical and health sciences, Liver/immunology, Liver/drug effects, Sciences des denrées alimentaires, Mitogen-Activated Protein Kinase Kinases/genetics, Human Umbilical Vein Endothelial Cells, vascular inflammation, Aorta/immunology, Animals, Humans, Aorta/drug effects, Vascular Diseases, Vascular Diseases/chemically induced, Aorta, Mitogen-Activated Protein Kinase Kinases/immunology, Vascular Diseases/immunology, Mitogen-Activated Protein Kinase Kinases, nobiletin, Transcription Factor RelA/genetics, 0303 health sciences, NF-κB/MAPK pathways, Transcription Factor RelA, General Chemistry, Flavones, Life sciences, Flavones/administration & dosage, Rats, 3. Good health, Vascular Diseases/prevention & control, cell proliferation, Methylamines/adverse effects, Liver, Sciences du vivant, Female, General Agricultural and Biological Sciences

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/31117553
https://pubag.nal.usda.gov/catalog/6459882
https://pubs.acs.org/doi/10.1021/acs.jafc.9b01270
https://pubs.acs.org/doi/abs/10.1021/acs.jafc.9b01270
https://pubmed.ncbi.nlm.nih.gov/31117553/
https://www.ncbi.nlm.nih.gov/pubmed/31117553

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

Autoren: Giraud, Sophie Bardel, Claire Dupuis-Girod, Sophie et al.

Weitere Verfasser: Giraud, Sophie Bardel, Claire Dupuis-Girod, Sophie et al.

Quelle: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-03985098 ; Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.254. ⟨10.1186/s13023-020-01533-2⟩.

Schlagwörter: ACVRL1, HHT, Rendu-Osler, Hepatic arteriovenous malformation, Modifier gene, MESH: Activin Receptors, Type II* / genetics, MESH: Endoglin / genetics, MESH: Female, MESH: Genotype, MESH: Humans, MESH: Liver* / blood supply, MESH: Lung Diseases, MESH: Mutation, MESH: Telangiectasia, Hereditary Hemorrhagic* / genetics, MESH: Vascular Diseases* / genetics, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/32962750; PUBMED: 32962750; PUBMEDCENTRAL: PMC7507685

Verfügbarkeit: https://hal.science/hal-03985098
https://hal.science/hal-03985098v1/document
https://hal.science/hal-03985098v1/file/s13023-020-01533-2.pdf
https://doi.org/10.1186/s13023-020-01533-2

Nobiletin Prevents Trimethylamine Oxide-Induced Vascular Inflammation via Inhibition of the NF-κB/MAPK Pathways.

Autoren: Yang, Guliang Lin, Chi-Chen Yang, Yiwen et al.

Quelle: Journal of Agricultural and Food Chemistry, 67 (22), 6169 - 6176 (2019-06-05)

Schlagwörter: NF-κB/MAPK pathways, TMAO, cell proliferation, nobiletin, vascular inflammation, Flavones, Methylamines, Transcription Factor RelA, Mitogen-Activated Protein Kinase Kinases, trimethyloxamine, Animals, Aorta/drug effects, Aorta/immunology, Female, Flavones/administration & dosage, Human Umbilical Vein Endothelial Cells, Humans, Liver/drug effects, Liver/immunology, Male, Methylamines/adverse effects, Mitogen-Activated Protein Kinase Kinases/genetics, Mitogen-Activated Protein Kinase Kinases/immunology, Rats, Rats, Sprague-Dawley, Transcription Factor RelA/genetics, Transcription Factor RelA/immunology, Vascular Diseases/chemically induced, Vascular Diseases/genetics, Vascular Diseases/immunology, Vascular Diseases/prevention & control, General Agricultural and Biological Sciences, General Chemistry, Life sciences, Food science, Sciences du vivant, Sciences des denrées alimentaires

Relation: https://pubs.acs.org/doi/pdf/10.1021/acs.jafc.9b01270; urn:issn:0021-8561; urn:issn:1520-5118

Zugangs-URL: https://orbi.uliege.be/handle/2268/316051

FHL2 Protein Is a Novel Co-repressor of Nuclear Receptor Nur77

Autoren: Kurakula, Kondababu van der Wal, Erik Geerts, Dirk et al.

Quelle: Kurakula, K, Van Der Wal, E, Geerts, D, Van Tiel, C M & De Vries, C J M 2011, 'FHL2 protein is a novel co-repressor of nuclear receptor Nur77', Journal of Biological Chemistry, vol. 286, no. 52, pp. 44336-44343. https://doi.org/10.1074/jbc.M111.308999, https://doi.org/10.1074/jbc.M111.308999

Schlagwörter: Monocytes/cytology, Nuclear Receptor Subfamily 4, 0301 basic medicine, Protein Structure, Transcription, Genetic, DNA/biosynthesis, LIM-Homeodomain Proteins, Myocytes, Smooth Muscle, Member 1/genetics, Transcription Factors/genetics, Muscle Proteins, Vascular Diseases/genetics, Monocytes, Promoter Regions, 03 medical and health sciences, LIM-Homeodomain Proteins/genetics, Smooth Muscle/cytology, Two-Hybrid System Techniques, Nuclear Receptor Subfamily 4, Group A, Member 1, Humans, Promoter Regions, Genetic, Group A, Muscle Proteins/genetics, Myocytes, Repressor Proteins/genetics, 0303 health sciences, Gene Expression Regulation/physiology, Macrophages, Macrophages/cytology, Endothelial Cells, Genetic/physiology, DNA, Protein Structure, Tertiary, Repressor Proteins, HEK293 Cells, Organ Specificity/physiology, Gene Expression Regulation, Organ Specificity, Gene Knockdown Techniques, Phosphopyruvate Hydratase, Phosphopyruvate Hydratase/genetics, Endothelial Cells/cytology, Transcription, Tertiary, Transcription Factors

Zugangs-URL: http://www.jbc.org/content/286/52/44336.full.pdf
https://pubmed.ncbi.nlm.nih.gov/22049082
https://www.ncbi.nlm.nih.gov/pubmed/22049082
https://www.jbc.org/content/286/52/44336.full
https://www.ncbi.nlm.nih.gov/pubmed/%20%20%20%20%20%2022049082
https://europepmc.org/articles/PMC3247951
https://www.jbc.org/article/S0021-9258(20)65484-9/fulltext
https://www.narcis.nl/publication/RecordID/oai%3Apure.amc.nl%3Apublications%2F33187547-aecd-4f33-9107-59d8ac5f8141
https://research.vumc.nl/en/publications/b366476f-39a2-42b4-a14f-fc996dcbc0d3
https://pure.amsterdamumc.nl/en/publications/0358ceed-ad9d-4370-b897-c4585d1ee477
https://doi.org/10.1074/jbc.M111.308999

A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression

Autoren: Gupta, Rajat M Hadaya, Joseph Trehan, Aditi et al.

Quelle: Gupta, R M, Hadaya, J, Trehan, A, Zekavat, S M, Roselli, C, Klarin, D, Emdin, C A, Hilvering, C R E, Bianchi, V, Mueller, C, Khera, A V, Ryan, R J H, Engreitz, J M, Issner, R, Shoresh, N, Epstein, C B, de Laat, W, Brown, J D, Schnabel, R B, Bernstein, B E & Kathiresan, S 2017, 'A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression', Cell, vol. 170, no. 3, pp. 522-533.e15. https://doi.org/10.1016/j.cell.2017.06.049

Schlagwörter: Acetylation, Cells, Cultured, Chromatin/metabolism, Chromosome Mapping, Chromosomes, Human, Pair 6, Coronary Artery Disease/genetics, Endothelial Cells/cytology, Endothelin-1/blood, Epigenomics, Gene Editing, Gene Expression, Genetic Predisposition to Disease, Genome-Wide Association Study, Histones/metabolism, Humans, Muscle, Smooth, Vascular/cytology, Polymorphism, Single Nucleotide, Vascular Diseases/genetics, MIGRAINE, BLOOD-PRESSURE, SMOOTH-MUSCLE-CELLS, MICE, GENOME-WIDE ASSOCIATION, RISK-FACTORS

Relation: info:eu-repo/semantics/altIdentifier/pmid/28753427; info:eu-repo/semantics/altIdentifier/wos/000406462400011; info:eu-repo/semantics/altIdentifier/pissn/0092-8674; info:eu-repo/semantics/altIdentifier/eissn/1097-4172

Verfügbarkeit: https://cris.maastrichtuniversity.nl/en/publications/b76c4207-47b2-435b-938f-34f3076f8361
https://doi.org/10.1016/j.cell.2017.06.049
https://www.scopus.com/pages/publications/85026362170

Progress in aorta and peripheral cardiovascular disease research.

Autoren: Mazzolai, L. Alatri, A. Rivière, A.B. et al.

Weitere Verfasser: Mazzolai, L. Alatri, A. Rivière, A.B. et al.

Schlagwörter: Animals, Aortic Diseases/diagnosis, Aortic Diseases/epidemiology, Aortic Diseases/genetics, Aortic Diseases/therapy, Biomedical Research/trends, COVID-19, Clinical Trials as Topic, Diffusion of Innovation, Humans, Peripheral Vascular Diseases/diagnosis, Peripheral Vascular Diseases/epidemiology, Peripheral Vascular Diseases/genetics, Peripheral Vascular Diseases/therapy, Prognosis, Antithrombotics, Aorta, COVID, Peripheral artery disease, Venous thromboembolism

Relation: Cardiovascular Research; https://iris.unil.ch/handle/iris/156755; serval:BIB_E6860B14DD9F; 000688054600014

Verfügbarkeit: https://iris.unil.ch/handle/iris/156755
https://doi.org/10.1093/cvr/cvab144

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome.

Autoren: Volpi, S. Insalaco, A. Caorsi, R. et al.

Schlagwörter: Child, Preschool, Female, Humans, Interferon Type I/blood, Janus Kinase Inhibitors/adverse effects, Janus Kinase Inhibitors/therapeutic use, Lung Diseases, Interstitial/blood, Interstitial/drug therapy, Interstitial/genetics, Membrane Proteins/genetics, Off-Label Use, Pyrazoles/adverse effects, Pyrazoles/therapeutic use, Receptor, Interferon alpha-beta/antagonists & inhibitors, Skin Diseases/blood, Skin Diseases/drug therapy, Skin Diseases/genetics, Syndrome, Treatment Outcome, Vascular Diseases/blood, Vascular Diseases/drug therapy, Vascular Diseases/genetics, JAK inhibitor, Recurrent fever, pulmonary fibrosis

Dateibeschreibung: application/pdf

Relation: Journal of Clinical Immunology; https://iris.unil.ch/handle/iris/72507; serval:BIB_399FE048032A; 000474418200004

Verfügbarkeit: https://iris.unil.ch/handle/iris/72507
https://doi.org/10.1007/s10875-019-00645-0

Thoracic aortic dissection: genes, molecules, and the knife.

Autoren: Choi JC LeMaire SA

Quelle: Texas Heart Institute journal [Tex Heart Inst J] 2012; Vol. 39 (6), pp. 838-9.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: published in the Cardiovascular Surgical Research Laboratories, Texas Heart Institute Country of Publication: United States NLM ID: 8214622 Publication Model: Print Cited Medium: Internet ISSN: 1526-6702 (Electronic) Linking ISSN: 07302347 NLM ISO Abbreviation: Tex Heart Inst J Subsets: MEDLINE

MeSH-Schlagworte: Aortic Dissection*/genetics , Aortic Dissection*/metabolism , Aortic Dissection*/surgery , Aortic Aneurysm, Thoracic*/genetics , Aortic Aneurysm, Thoracic*/metabolism , Aortic Aneurysm, Thoracic*/surgery , Mutation*, DNA/*genetics , Extracellular Matrix/*metabolism , Receptors, Transforming Growth Factor beta/*genetics , Vascular Surgical Procedures/*methods, Humans ; Receptors, Transforming Growth Factor beta/metabolism