المؤلفون: Edwin M. Stone, Carly J. van der Heide, Claudia Gonzaga-Jauregui, Ben R. Roos, Wallace L.M. Alward, Todd E. Scheetz, Michael G. Anderson, Robert F. Mullins, Young H. Kwon, Wes Goar, Val C. Sheffield, Baojian Fan, Erin A. Boese, Kacie J. Meyer, Nathan C. Sears, Adam P. DeLuca, Kai Wang, Owen M. Siggs, Jamie E Craig, Robert Ritch, John H. Fingert, Janey L. Wiggs

المصدر: BMC Genomics
BMC Genomics, Vol 22, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Glaucoma, Iris, Biology, QH426-470, Exomes, 03 medical and health sciences, Mice, 0302 clinical medicine, Human genetics, Exome Sequencing, medicine, Genetics, Animals, Humans, Exome, TYRP1, Gene, Exome sequencing, Pigmentary Glaucoma, 0303 health sciences, Membrane Glycoproteins, Pigmentation, Research, 030305 genetics & heredity, food and beverages, medicine.disease, PMEL, Pigment dispersion syndrome, 030221 ophthalmology & optometry, TP248.13-248.65, Glaucoma, Open-Angle, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef7cbfac7f7a31c398900472c31bce67Test
https://pubmed.ncbi.nlm.nih.gov/34174832Test

المؤلفون: Nickie Stangel, Yongwook Dan, Conceição Egas, Terri L. Young, Kristina N. Whisenhunt, Jacob S Martin, Fatemeh Suri, Reza Maroofian, Samuel J Huang, Susana Carmona, Susan E. Quaggin, Tomokazu Souma, Emmanuelle Souzeau, Behzad Fallahi Motlagh, Jing Jin, Sarah M LaMartina, Nicole M Jody, Brendan M Lawson, Mehrnaz Narooie-Nejad, Heather D. Potter, Emily C. Higuchi, Owen M. Siggs, Jamie E Craig, Eduardo Silva, Vachiranee Limviphuvadh, Sebastian Maurer-Stroh, Xue Zhang, Elahe Elahi, Yasmin S. Bradfield, Maria José Simões, Evie Anagnos, Sean Martin, Stuart W. Tompson

المصدر: Investigative Ophthalmology & Visual Science

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, genetic structures, Genotyping Techniques, Glaucoma, Penetrance, Mice, 0302 clinical medicine, Gene Frequency, Missense mutation, Protein Isoforms, Phosphorylation, Exome sequencing, Middle Aged, Receptor, TIE-2, Pedigree, Schlemm's canal, Child, Preschool, Female, Haploinsufficiency, medicine.medical_specialty, Blotting, Western, Mutation, Missense, Biology, 03 medical and health sciences, Dysgenesis, Exome Sequencing, medicine, Genetics, Human Umbilical Vein Endothelial Cells, Animals, Humans, Allele, Allele frequency, SVEP1, Intraocular Pressure, Aged, modifier, Genes, Modifier, Hydrophthalmos, Infant, Newborn, Infant, medicine.disease, 030104 developmental biology, glaucoma, HEK293 Cells, TEK, 030221 ophthalmology & optometry, Cell Adhesion Molecules

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b98fc5b18cd56f614b4b1c8935f903e8Test
http://europepmc.org/articles/PMC7545080Test

المؤلفون: Simone Finzi, Janey L. Wiggs, David A. Mackey, Terri L. Young, Shahrbanou Javadiyan, Owen M. Siggs, Stuart W. Tompson, Francesca Pasutto, Xiaorong Liu, Dimitar N. Azmanov, Simon W. M. John, Yasmin S. Bradfield, Alex W. Hewitt, Kristina N. Whisenhunt, Liang Feng, Tuncer Onay, Jamie E Craig, Benjamin R. Thomson, Luba Kalaydjieva, Jing Jin, Emmanuelle Souzeau, Tammy L. Yanovitch, Krishnakumar Kizhatil, Susan E. Quaggin, Christine A Tanna, Tomokazu Souma

المصدر: Journal of Clinical Investigation. 127:4421-4436

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, genetic structures, Angiogenesis, Glaucoma, Cohort Studies, Angiopoietin, Pathogenesis, Mice, 03 medical and health sciences, 0302 clinical medicine, Trabecular Meshwork, Ophthalmology, Angiopoietin-1, medicine, Animals, Humans, Loss function, Lymphatic Vessels, Mice, Knockout, Schlemm's canal, biology, business.industry, Genetic Diseases, Inborn, General Medicine, medicine.disease, Receptor, TIE-2, Angiopoietin receptor, 030104 developmental biology, medicine.anatomical_structure, 030221 ophthalmology & optometry, Cancer research, biology.protein, Female, sense organs, Trabecular meshwork, business, Signal Transduction, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c7287db8159566227b0569b3795f01Test
https://doi.org/10.1172/jci95545Test

المؤلفون: Alex K. Heer, Manfred Kopf, Josef M. Penninger, Samuel Philip Nobs, Owen M. Siggs, Christoph Schneider, Emilio Hirsch

المصدر: Journal of Leukocyte Biology, 101 (2)

مصطلحات موضوعية: Male, 0301 basic medicine, Transgene, Respiratory Tract Diseases, Immunology, Context (language use), Disease, Mucin 2, Biology, medicine.disease_cause, PI3K, Article, Mice, 03 medical and health sciences, Orthomyxoviridae Infections, Macrophages, Alveolar, medicine, Animals, Class Ib Phosphatidylinositol 3-Kinase, Immunology and Allergy, GM-CSF receptor, influenza, mucin 2, Crosses, Genetic, PI3K/AKT/mTOR pathway, Mice, Knockout, Mutation, Granulocyte-Macrophage Colony-Stimulating Factor, Cancer, Cell Biology, Orthomyxoviridae, medicine.disease, Mice, Inbred C57BL, 030104 developmental biology, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Female, Disease Susceptibility, Signal transduction, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c170af615478c8175c7dc4f3c5bfaaTest
https://hdl.handle.net/20.500.11850/181333Test

المؤلفون: Bruce Beutler, Bernd Schnabl, Bill Webb, Owen M. Siggs

مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.drug_class, ATPase, Mutant, Cholestasis, Intrahepatic, Cholic Acid, Biology, medicine.disease_cause, Mice, chemistry.chemical_compound, Cholestasis, Genes, X-Linked, Hyperbilirubinemia, Hereditary, Pregnancy, Lymphopenia, Internal medicine, medicine, Animals, DNA Primers, B-Lymphocytes, Mutation, Multidisciplinary, Base Sequence, Bile acid, medicine.diagnostic_test, Homozygote, Cholic acid, Genetic Diseases, X-Linked, Mitochondrial Proton-Translocating ATPases, Biological Sciences, Jaundice, medicine.disease, Dystocia, Mice, Mutant Strains, Mice, Inbred C57BL, Disease Models, Animal, Phenotype, Endocrinology, chemistry, biology.protein, Female, medicine.symptom, Liver function tests, Molecular Chaperones

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ba21879e1a28bc0d72545d5e18808cTest
https://doi.org/10.1073/pnas.1104631108Test

المؤلفون: Elaine Pirie, Bruce Beutler, David Nemazee, Philippe Krebs, Christoph Huber, Nora G. Smart, Kevin Khovananth, Gunilla B. Karlsson Hedestam, Yu Xia, Michael Berger, Celine Eidenschenk, Gerald M. McInerney, Owen M. Siggs, Carrie N. Arnold

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: Male, Ectodermal dysplasia, Blotting, Western, Mice, Transgenic, Biology, medicine.disease_cause, Nitric Oxide, T-Lymphocytes, Regulatory, 03 medical and health sciences, Mice, 0302 clinical medicine, Immune system, IKBKG, medicine, Animals, Loss function, 030304 developmental biology, 0303 health sciences, Toll-like receptor, Mutation, Multidisciplinary, Toll-Like Receptors, Immunologic Deficiency Syndromes, Intracellular Signaling Peptides and Proteins, Biological Sciences, medicine.disease, Flow Cytometry, Null allele, I-kappa B Kinase, IκBα, Mutagenesis, Ethylnitrosourea, Cancer research, Cytokines, Lymph Nodes, 030215 immunology, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e369d1dd81e1b7daa09ce8dd8244008Test
https://ora.ox.ac.uk/objects/uuid:06c08181-70d5-48dd-aa47-844e2ab8ef77Test

المؤلفون: Francesca Pasutto, Steve Rozen, Keri F. Allen, Terri L. Young, Shahrbanou Javadiyan, Tiger Zhou, Tomokazu Souma, Stuart W. Tompson, Kathryn P. Burdon, Kristina N. Whisenhunt, Simone Finzi, Khanh Nhat Tran-Viet, Shinji Yamaguchi, David A. Mackey, Jing Jin, Dimitar N. Azmanov, Sing Hui Lim, Sebastian Maurer-Stroh, Bethany A. Kloss, Alex W. Hewitt, Jonathan B Ruddle, Janey L. Wiggs, Krishnakumar Kizhatil, Jamie E Craig, Benjamin R. Thomson, Emmanuelle Souzeau, Susan E. Quaggin, Luba Kalaydjieva, Simon W. M. John, Xiaorong Liu, Vachiranee Limviphuvadh, Lucia Mauri, Owen M. Siggs, Tammy L. Yanovitch, Liang Feng

المساهمون: School of Biological Sciences

المصدر: The Journal of clinical investigation. 126(7)

مصطلحات موضوعية: 0301 basic medicine, Pathology, genetic structures, Gene Dosage, Glaucoma, medicine.disease_cause, Ligands, Mice, Medicine, Missense mutation, Exome, Phosphorylation, Mice, Knockout, Mutation, biology, General Medicine, Angiopoietin receptor, Receptor, TIE-2, Cell biology, Pedigree, medicine.anatomical_structure, Phenotype, primary congenital glaucoma, Haploinsufficiency, Signal Transduction, Research Article, medicine.medical_specialty, CYP1B1, Mutation, Missense, Mice, Transgenic, 03 medical and health sciences, angiopoietin receptor TEK, Trabecular Meshwork, Animals, Humans, Loss function, Intraocular Pressure, Family Health, business.industry, medicine.disease, eye diseases, 030104 developmental biology, Gene Expression Regulation, biology.protein, Trabecular meshwork, sense organs, business, Angiopoietins

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fdc4703ba7fd7930ce3ff130d9e61b1Test
https://pubmed.ncbi.nlm.nih.gov/27270174Test

المؤلفون: Eliezer Masliah, Michael B. A. Oldstone, Justin T. Cruite, Sophie Rutschmann, Owen M. Siggs, Xin Du, Bruce Beutler

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 109(34)

مصطلحات موضوعية: Male, Prions, ATP7A, Scrapie, Biology, Pathogenesis, Mice, medicine, Animals, Homeostasis, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Alleles, Adenosine Triphosphatases, Multidisciplinary, Pigmentation, Neurodegeneration, Heterozygote advantage, Biological Sciences, medicine.disease, Forward genetics, Mice, Inbred C57BL, Phenotype, Copper-Transporting ATPases, Mutagenesis, Ethylnitrosourea, Immunology, Mutation, Menkes disease, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a8a79709095e4a770c45a9be2897a89Test
http://ora.ox.ac.uk/objects/uuid:070bf0d9-a330-4e75-a2e7-9d8df4eaf2a7Test

المؤلفون: Daniela N. Maennel, Sylvain Le Gall, Xiaohong Li, Owen M. Siggs, Xin Du, Christina Neppl, Wataru Tomisato, Katharina Brandl, Bruce Beutler, Carl P. Blobel, Lei Sun

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 107(46)

مصطلحات موضوعية: Lipopolysaccharides, EGF Family of Proteins, Hematopoietic System, Ligands, Inflammatory bowel disease, Amphiregulin, Epiregulin, Mice, Epidermal growth factor, medicine, Animals, Epidermal growth factor receptor, Colitis, Receptor, Glycoproteins, Multidisciplinary, biology, Epidermal Growth Factor, Dextran Sulfate, Toll-Like Receptors, Biological Sciences, medicine.disease, ErbB Receptors, Mice, Inbred C57BL, Adaptor Proteins, Vesicular Transport, Phenotype, Mutation, Myeloid Differentiation Factor 88, Cancer research, biology.protein, Intercellular Signaling Peptides and Proteins, Metagenome, Signal transduction, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44086d51774d0100569cd72098438c49Test
http://ora.ox.ac.uk/objects/uuid:b3eb4d2d-9e07-4d18-a4ad-2c025d473100Test

المؤلفون: Anselm Enders, Adrian Liston, Owen M. Siggs

المصدر: Nature reviews. Immunology. 8(7)

مصطلحات موضوعية: History, T-Lymphocytes, receptor-gamma-chain, Receptors, Antigen, T-Cell, lymphoid tyrosine phosphatase, Autoimmunity, dna-ligase-iv, Biology, medicine.disease_cause, Education, Immune tolerance, bone-marrow-transplantation, Immune system, wiskott-aldrich-syndrome, Immune Tolerance, medicine, Animals, Humans, adenosine-deaminase deficiency, Severe combined immunodeficiency, Immunologic Deficiency Syndromes, juvenile rheumatoid-arthritis, Autoantibody, Immune dysregulation, medicine.disease, growth-hormone insensitivity, Computer Science Applications, Adenosine deaminase deficiency, Disease Models, Animal, v(d)j recombination activity, Immunology, Cytokines, Severe Combined Immunodeficiency, cartilage-hair hypoplasia, T-Cell Immunodeficiency, Signal Transduction

وصف الملف: Print; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a98c086b44e8f084712ab9b5f0fc9af6Test
http://ora.ox.ac.uk/objects/uuid:a8be61a3-39c1-4c4b-9292-c861413e9463Test