المؤلفون: Nagireddy Putluri, Sanjeet Patel, James W. Suliburk, Jolanta Chmielowiec, Diane Yang, Arun Sreekumar, Malgorzata Borowiak, Wojciech J. Szlachcic, Michael L. Metzker, Diane I. Scaduto, Ashok Balasubramanyam

المصدر: Diabetes

مصطلحات موضوعية: Adult, Male, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Induced Pluripotent Stem Cells, 030209 endocrinology & metabolism, Enteroendocrine cell, Biology, 03 medical and health sciences, 0302 clinical medicine, Insulin-Secreting Cells, Internal Medicine, medicine, Transcriptional regulation, Humans, Induced pluripotent stem cell, Pancreas, Cells, Cultured, PI3K/AKT/mTOR pathway, 030304 developmental biology, Homeodomain Proteins, 0303 health sciences, Genetics/Genomes/Proteomics/Metabolomics, Cell Differentiation, Syndrome, medicine.disease, Diabetes Mellitus, Type 1, Gene Expression Regulation, Trans-Activators, Cancer research, PDX1, Stem cell, Ketosis-prone diabetes, Definitive endoderm

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524a243b490a4f59f169cb619acba9c4Test
https://doi.org/10.2337/figshare.15070170.v2Test

المؤلفون: Anu Guthikonda, Michael L. Metzker, Dena L. Mansouri, Mario Maldonado, Ashok Balasubramanyam, Dinakar Iyer, Ramaswami Nalini, Wade C. Haaland, Christiane S. Hampe, Sanjeet G. Patel, Diane I. Scaduto

المصدر: Diabetes Care

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Diabetic ketoacidosis, Endocrinology, Diabetes and Metabolism, Type 2 diabetes, Islets of Langerhans, Insulin-Secreting Cells, Internal medicine, Diabetes mellitus, Glucokinase, Basic Helix-Loop-Helix Transcription Factors, Internal Medicine, medicine, Humans, Insulin, Paired Box Transcription Factors, Family history, Pathophysiology/Complications, Autoantibodies, Hepatocyte Nuclear Factor 1-beta, Original Research, Glycated Hemoglobin, Homeodomain Proteins, Advanced and Specialized Nursing, business.industry, Genetic Variation, Middle Aged, medicine.disease, HNF1B, HNF1A, Diabetes Mellitus, Type 1, Endocrinology, Diabetes Mellitus, Type 2, Hepatocyte Nuclear Factor 4, NEUROD1, Trans-Activators, Female, business, Ketosis-prone diabetes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cea787e00f7727fcaf5cc76511cdc65Test
https://doi.org/10.2337/dc08-1529Test

المؤلفون: Neil Walker, Constantin Ionescu-Tirgoviste, Kathleen M Gillespie, Cristian Guja, David A. Savage, Jane Rogers, Eva Tuomilehto-Wolf, Christopher Patterson, Dag E. Undlien, Laurence B. Peterson, H Ueda, Michael L. Metzker, Francesco Cucca, Jaakko Tuomilehto, C Bordin, R Nithiyananthan, Hywel Snook, Amit Allahabadia, Simon G. Gregory, Helen E. Rance, Jayne A. Franklyn, John A. Todd, A C Lam, F Payne, John S. Hulme, Laura Esposito, Polly J. Bingley, Anne Smith, Giselle Chamberlain, Dennis Carson, Gough Scl., Kjersti S. Rønningen, Deborah J. Smyth, G Di Genova, Barry C. Healy, Alexander P. Maxwell, Joanne M. Heward, Sarah Nutland, Howson Jmm., Christopher E. Lowe, Twells Rcj., Hunter Kmd., Sarah Howlett, Heather J. Cordell, Ingrid Dahlman, J F Hess, David Clayton, Linda S. Wicker, Mathias H. Herr, Vincent H. Everett, Costantino Motzo, Dan Rainbow, Luc J. Smink

المصدر: Ueda, H, Howson, J M M, Esposito, L, Heward, J, Snook, H, Chamberlain, G, Rainbow, D B, Hunter, K M D, Smith, A N, Di Genova, G, Herr, M H, Dahlman, I, Payne, F, Smyth, D, Lowe, C, Twells, R C J, Howlett, S, Healy, B, Nutland, S, Rance, H E, Everett, V, Smink, L J, Lam, A C, Cordell, H J, Walker, N M, Bordin, C, Hulme, J, Motzo, C, Cucca, F, Hess, J F, Metzker, M L, Rogers, J, Gregory, S, Allahabadia, A, Nithiyananthan, R, Tuomilehto-Wolf, E, Tuomilehto, J, Bingley, P, Gillespie, K M, Undlien, D E, Ronningen, K S, Guja, C, Ionescu-Tirgoviste, C, Savage, D, Maxwell, A, Carson, D, Patterson, C, Franklyn, J A, Clayton, D G, Peterson, L B, Wicker, L S, Todd, J A & Gough, S C L 2003, ' Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease ' Nature, vol. 423 (6939), no. 6939, pp. 506-511 .

مصطلحات موضوعية: Immunoconjugates, Genotype, T-Lymphocytes, T cell, Population, chemical and pharmacologic phenomena, Biology, Polymorphism, Single Nucleotide, Autoimmune Diseases, Abatacept, PTPN22, Mice, 03 medical and health sciences, 0302 clinical medicine, Hypothyroidism, Gene mapping, Antigens, CD, medicine, Animals, Humans, Protein Isoforms, CTLA-4 Antigen, Genetic Predisposition to Disease, Allele, General, education, Gene, 030304 developmental biology, Regulator gene, Genetics, Autoimmune disease, 0303 health sciences, education.field_of_study, Multidisciplinary, Base Sequence, medicine.disease, Antigens, Differentiation, Graves Disease, 3. Good health, Alternative Splicing, Disease Models, Animal, Diabetes Mellitus, Type 1, medicine.anatomical_structure, Immunology, 030215 immunology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4278267511fa630d26092f47f30edaeTest
https://doi.org/10.1038/nature01621Test

المؤلفون: Michael L. Metzker, Jesse Muniz, Ashok Balasubramanyam, Christiane S. Hampe, Luisa M. Rodriguez, Struan F.A. Grant, Dinakar Iyer, Maria J. Redondo, Morey W. Haymond, Fariba Vaziri-Sani

المصدر: BMJ open diabetes research & care; 2(1), pp 000008-000008 (2014)
BMJ Open Diabetes Research & Care

مصطلحات موضوعية: medicine.medical_specialty, endocrine system, endocrine system diseases, Transcription Factor, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Type 2 diabetes, Endocrinology and Diabetes, medicine.disease_cause, Autoimmunity, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Internal medicine, Medicine, 030304 developmental biology, Autoantibodies, 0303 health sciences, Type 1 diabetes, geography, geography.geographical_feature_category, business.industry, Autoantibody, nutritional and metabolic diseases, Genetics/Genomes/Proteomics/Metabolomics, Pediatric Type 1 Diabetes, medicine.disease, Islet, 3. Good health, Endocrinology, Zinc Transporter 8, Immunology, business, TCF7L2, LADA (Latent Autoimmune Diabetes in Adults)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b4822819119794aca4fa199810b3cc6Test
https://lup.lub.lu.se/record/4913206Test

المؤلفون: Laura E. Kakuk, Wen Li, Min Han, Robert J. Gould, Michael L. Metzker, Radha Ayyagari, David J. Figueroa, Konstantin Petrukhin, Yang Li, Ian M. MacDonald, Marina Kniazeva, Rando Allikmets, Christopher P. Austin, Zhengya Yu, Zhenglin Yang, Pamela S. Lagali, Paul A. Sieving, Donald J. Zack, Paul Wong, Kang Zhang

المصدر: Nature Genetics. 27:89-93

مصطلحات موضوعية: Male, genetic structures, DNA Mutational Analysis, Molecular Sequence Data, Biology, Retina, Macular Degeneration, Mice, Exon, Gene mapping, Genetics, medicine, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Eye Proteins, Gene, In Situ Hybridization, Genes, Dominant, Sequence Deletion, Base Sequence, Intron, Chromosome Mapping, Membrane Proteins, Exons, Macular degeneration, Macular dystrophy, medicine.disease, Macaca mulatta, Introns, eye diseases, Pedigree, medicine.anatomical_structure, Membrane protein, Chromosomes, Human, Pair 6, Female, sense organs, Lod Score, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142471fd1d195b34d47216576cfe9a8cTest
https://doi.org/10.1038/83817Test

المؤلفون: C. T. Caskey, Arthur A.B. Bergen, David J. Figueroa, Konstantin Petrukhin, M. J. Koisti, Ola Sandgren, Gösta Holmgren, Wen Li, Michael L. Metzker, B. Bakall, V. Mcgarty-Dugan, M. Vujic, Towa Marknell, Claes Wadelius, Christopher P. Austin, Guochun Xie, Kristina Forsman, Sten Andréasson

المساهمون: Other departments

المصدر: Nature genetics, 19(3), 241-247. Nature Publishing Group

مصطلحات موضوعية: Male, Candidate gene, DNA, Complementary, Bestrophins, genetic structures, DNA Mutational Analysis, Molecular Sequence Data, Vitelliform macular dystrophy, Ion Channels, Macular Degeneration, Mice, Gene mapping, Chloride Channels, Genes, Overlapping, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Cloning, Molecular, Caenorhabditis elegans, Eye Proteins, Gene, Base Sequence, biology, Chromosome Mapping, Macular degeneration, medicine.disease, eye diseases, Pedigree, Bestrophin 1, Ferritins, biology.protein, Female, sense organs, Autosomal recessive bestrophinopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c4d3c0123dcf1aca31c6da7b059931fTest
https://doi.org/10.1038/915Test