المؤلفون: Murata, T, Katayama, K, Oohashi, T, Jahnukainen, T, Yonezawa, T, Sado, Y, Ishikawa, E, Nomura, S, Tryggvason, K, Ito, M

المساهمون: DUKE-NUS MEDICAL SCHOOL

المصدر: Unpaywall 20201031

مصطلحات موضوعية: COL4A1 protein, human, mouse, COL4A2 protein, COL4A6 protein, collagen type 4, peptide fragment, adolescent, animal, C57BL mouse, cross breeding, female, genetics, glomerulus basement membrane, homozygote, intron, kidney, knockout mouse, male, metabolism, mutation, nephritis, recessive gene, Animals, Collagen Type IV, Crosses, Genetic, Genes, Recessive, Glomerular Basement Membrane

Relation: Murata, T, Katayama, K, Oohashi, T, Jahnukainen, T, Yonezawa, T, Sado, Y, Ishikawa, E, Nomura, S, Tryggvason, K, Ito, M (2016). COL4A6 is dispensable for autosomal recessive Alport syndrome. Scientific Reports 6 : 29450. ScholarBank@NUS Repository. https://doi.org/10.1038/srep29450; https://scholarbank.nus.edu.sg/handle/10635/182453

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/182453

المؤلفون: Rainer Malik, Kristiina Rannikmäe, Matthew Traylor, Stéphanie Debette, Cathie Sudlow, Muralidharan Sargurupremraj, Marios K. Georgakis, Hugh S. Markus, Jemma C. Hopewell, Martin Dichgans

المساهمون: Ludwig-Maximilians-Universität München (LMU), University of Edinburgh, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Cambridge [UK] (CAM), Traylor, Matthew [0000-0001-6624-8621], Apollo - University of Cambridge Repository

المصدر: Annals of Neurology
Annals of Neurology, Wiley, 2018, 84 (6), pp.934-939. ⟨10.1002/ana.25369⟩
Annals of neurology 84(6), 934-939 (2018). doi:10.1002/ana.25369

مصطلحات موضوعية: 0301 basic medicine, Collagen Type IV, statistics & numerical data [Databases, Factual], Databases, Factual, Nitric Oxide Synthase Type III, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Single-nucleotide polymorphism, Genome-wide association study, genetics [Protein Serine-Threonine Kinases], Biology, Protein Serine-Threonine Kinases, Brief Communication, genetics [Protein-Serine-Threonine Kinases], 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Polymorphism (computer science), Risk Factors, Mendelian randomization, Genetic variation, medicine, genetics [Protein-Tyrosine Kinases], Humans, Genetic Predisposition to Disease, ddc:610, genetics [Collagen Type IV], Allele frequency, Stroke, Genetics, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Mendelian Randomization Analysis, genetics [Nitric Oxide Synthase Type III], COL4A1 protein, human, Protein-Tyrosine Kinases, medicine.disease, Protein-Serine-Threonine Kinases, Dyrk kinase, Europe, 030104 developmental biology, Neurology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, genetics [Stroke], Neurology (clinical), NOS3 protein, human, Brief Communications, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d66a082364a50c224f01dd1892fceb5
http://europepmc.org/articles/PMC6644297

المؤلفون: Grobe-Einsler, Marcus, Urbach, Horst, Paus, Sebastian

المصدر: Journal of stroke and cerebrovascular diseases 29(12), 105386 (2020). doi:10.1016/j.jstrokecerebrovasdis.2020.105386

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Brain Stem Infarctions: diagnostic imaging, Brain Stem Infarctions: genetics, Brain Stem Infarctions: physiopathology, Brain Stem Infarctions: therapy, Cerebral Small Vessel Diseases: diagnostic imaging, Cerebral Small Vessel Diseases: genetics, Cerebral Small Vessel Diseases: physiopathology, Cerebral Small Vessel Diseases: therapy, Collagen Type IV: genetics, Disease Progression, Genetic Predisposition to Disease, Humans, Leukoencephalopathies: diagnostic imaging, Leukoencephalopathies: genetics, Leukoencephalopathies: physiopathology, Leukoencephalopathies: therapy, Male, Mutation, Pons: blood supply, Recurrence, CADASIL, COL4A1, Hereditary stroke, PADMAL, Pontine stroke, Stroke, COL4A1 protein, human

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:33254373; info:eu-repo/semantics/altIdentifier/issn/1052-3057; info:eu-repo/semantics/altIdentifier/issn/1532-8511; https://pub.dzne.de/record/164303; https://pub.dzne.de/search?p=id:%22DZNE-2022-00957%22

الاتاحة: https://pub.dzne.de/record/164303
https://pub.dzne.de/search?p=id:%22DZNE-2022-00957%22

المؤلفون: Horst Urbach, Sebastian Paus, Marcus Grobe-Einsler

المصدر: Journal of stroke and cerebrovascular diseases 29(12), 105386 (2020). doi:10.1016/j.jstrokecerebrovasdis.2020.105386

مصطلحات موضوعية: Male, genetics [Leukoencephalopathies], Pontine stroke, CADASIL, Leukoencephalopathy, 0302 clinical medicine, Recurrence, therapy [Cerebral Small Vessel Diseases], Medicine, therapy [Brain Stem Infarctions], genetics [Collagen Type IV], Stroke, diagnostic imaging [Brain Stem Infarctions], PADMAL, Rehabilitation, blood supply [Pons], medicine.anatomical_structure, Cardiology, Disease Progression, diagnostic imaging [Leukoencephalopathies], diagnostic imaging [Cerebral Small Vessel Diseases], Cardiology and Cardiovascular Medicine, Vasculitis, Adult, Collagen Type IV, medicine.medical_specialty, COL4A1, Central nervous system, physiopathology [Brain Stem Infarctions], 03 medical and health sciences, Internal medicine, Humans, Genetic Predisposition to Disease, ddc:610, physiopathology [Cerebral Small Vessel Diseases], physiopathology [Leukoencephalopathies], business.industry, Microangiopathy, COL4A1 protein, human, medicine.disease, Pons, Hyperintensity, genetics [Brain Stem Infarctions], therapy [Leukoencephalopathies], Mutation, genetics [Cerebral Small Vessel Diseases], Surgery, Neurology (clinical), Hereditary stroke, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b46c929d0b01ee4269ed487e7741ecac
https://pub.dzne.de/record/164303

المؤلفون: Malik, Rainer, Rannikmäe, Kristiina, Consortium, MEGASTROKE consortium and the International Stroke Genetics, Traylor, Matthew, Georgakis, Marios K, Sargurupremraj, Muralidharan, Markus, Hugh S, Hopewell, Jemma C, Debette, Stephanie, Sudlow, Cathie L M, Dichgans, Martin

المصدر: Annals of neurology 84(6), 934-939 (2018). doi:10.1002/ana.25369

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Protein Serine-Threonine Kinases: genetics, Collagen Type IV: genetics, Databases, Factual: statistics & numerical data, Europe, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Mendelian Randomization Analysis, Nitric Oxide Synthase Type III: genetics, Protein-Serine-Threonine Kinases: genetics, Protein-Tyrosine Kinases: genetics, Risk Factors, Stroke: genetics, COL4A1 protein, human, Collagen Type IV, NOS3 protein, Nitric Oxide Synthase Type III, Dyrk kinase, Protein-Tyrosine Kinases, Protein-Serine-Threonine Kinases

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0364-5134; info:eu-repo/semantics/altIdentifier/pmid/pmid:30383316; info:eu-repo/semantics/altIdentifier/issn/1531-8249; https://pub.dzne.de/record/140402; https://pub.dzne.de/search?p=id:%22DZNE-2020-06724%22

الاتاحة: https://pub.dzne.de/record/140402
https://pub.dzne.de/search?p=id:%22DZNE-2020-06724%22