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1دورية أكاديمية
المؤلفون: Matthew G Rees, Mindy I Davis, Min Shen, Steve Titus, Anne Raimondo, Amy Barrett, Anna L Gloyn, Francis S Collins, Anton Simeonov
المصدر: PLoS ONE, Vol 9, Iss 2, p e89335 (2014)
وصف الملف: electronic resource
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المؤلفون: Mahesh M. Umapathysivam, Anne Raimondo, Shahana Sengupta, Markku Laakso, Peter S. Chines, Anna L. Gloyn, Anne Clark, Hanna Huopio, Antje Grotz, Lori L. Bonnycastle, Amy J. Swift, Benoit Hastoy, Francis S. Collins
المصدر: Diabetes. 68
مصطلحات موضوعية: Neonatal diabetes mellitus, business.industry, Endocrinology, Diabetes and Metabolism, Immunology, Internal Medicine, Medicine, Susceptibility gene, Type 2 diabetes, Allele, business, medicine.disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::348bd26b300d68758e2c7269968c5205
https://doi.org/10.2337/db19-25-or -
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المؤلفون: Wieland Kiess, Josée Dupuis, Yingchang Lu, Yii-Der Ida Chen, Sara M. Willems, George Dedoussis, Frida Renström, Carolina Medina-Gomez, Tamara B. Harris, Cramer Christensen, Audrey Y. Chu, Nicola L. Beer, Emil V. R. Appel, Niels Grarup, Fredrik Karpe, Mark I. McCarthy, Yuning Chen, Veikko Salomaa, Sylvain Sebert, Richard A. Jensen, Joel N. Hirschhorn, Lars Lind, Jocelyn E. Manning Fox, Caroline Hayward, Patrick E. MacDonald, Matti Uusitupa, Stavroula Kanoni, Carola Marzi, Kenneth Rice, Leslie A. Lange, Ken Sin Lo, Jennifer L. Asimit, Nisa M. Maruthur, Leonard Lipovich, James S. Floyd, Rona J. Strawbridge, Magdalena Zoledziewska, Anne Raimondo, Robert Sladek, Alexandra I. F. Blakemore, Hugoline G. de Haan, Danish Saleheen, Ji Chen, Neil Robertson, Ching-Yu Cheng, Heiner Boeing, Min A. Jhun, Marjo-Riitta Järvelin, Anubha Mahajan, Rainer Rauramaa, Satu Männistö, Paul M. Ridker, Ivan Brandslund, Hester M. den Ruijter, Tien Yin Wong, Alison D. Murray, Jaakko Tuomilehto, Xueling Sim, Igor Rudan, Martijn van de Bunt, Jin Li, Marit E. Jørgensen, Marie-France Hivert, Archie Campbell, Salman M. Tajuddin, Pekka Jousilahti, Lawrence F. Bielak, Juan P. Fernandez, Eleanor Wheeler, Alan B. Zonderman, Anne Clark, Lori L. Bonnycastle, Kurt Lohman, Peter Kovacs, Jung-Jin Lee, Jennifer Wessel, Wesam A Alhejily, Gerard Pasterkamp, John M. Starr, Ping An, Matthias Blüher, Jian'an Luan, Hanieh Yeghootkar, Jakob Stokholm, Michael Roden, Blair H. Smith, Johanna Jakobsdottir, Franco Giulianini, Andrianos M. Yiorkas, Hidetoshi Kitajima, Michael A. Province, Aliki-Eleni Farmaki, Kerrin S. Small, Juha Saltevo, Robert A. Scott, Alena Stančáková, Gaëlle Marenne, Asif Rasheed, Ruth J. F. Loos, David J. Porteous, Cecilia M. Lindgren, Inês Barroso, Gail Davies, Anna L. Gloyn, Shuai Wang, Paul Redmond, Xiuqing Guo, Ele Ferrannini, Mariaelisa Graff, Cornelia M. van Duijn, Juha Auvinen, David R. Weir, Kay-Tee Kaw, Tarunveer S. Ahluwalia, Olov Rolandsson, Wei Zhao, Paul Elliott, Torben Hansen, Abbas Dehghan, Bram P. Prins, Michiel L. Bots, Alison Pattie, Jun Liu, Gonçalo R. Abecasis, Maria Karaleftheri, Claudia Langenberg, Jan-Håkan Jansson, Marja Vääräsmäki, James S. Pankow, Rebecca S. Fine, Jaana Lindström, Ozren Polasek, Vinicius Tragante, Soren K. Thomsen, Jana K. Rundle, Najaf Amin, Saima Afaq, Jennifer A. Smith, Anne U. Jackson, Eirini Marouli, Weihua Zhang, Tim D. Spector, Paul W. Franks, Serena Sanna, Mark J. Caulfield, Heikki A. Koistinen, Jaspal S. Kooner, Tea Skaaby, Francis S. Collins, Eva Rabing Brix Petersen, Arfan Ikram, Sander W. van der Laan, Johanna Kuusisto, Jette Bork-Jensen, Daniel I. Chasman, Michele K. Evans, Emmanouil Tsafantakis, A. I. Tarasov, Ian J. Deary, Hans Bisgaard, Dennis O. Mook-Kanamori, Helen R. Warren, Kent D. Taylor, Andrew D. Morris, Eleftheria Zeggini, Sharon L.R. Kardia, Emma Ahlqvist, Gert J. de Borst, Torben Jørgensen, Antonella Mulas, Man Li, Betina H. Thuesen, Yuan Shi, Timo A. Lakka, Jie Yao, Tapani Ebeling, Natasha H. J. Ng, Sai Chen, Leena Kinnunen, Antje Körner, Klaus Bønnelykke, Lorraine Southam, Anette P. Gjesing, Ilonca Vaartjes, Heather M. Highland, Göran Hallmans, Anke Tönjes, Markku Laakso, Lenore J. Launer, Josef Coresh, Oscar H. Franco, Yongmei Liu, Beverley Balkau, Leena Moilanen, Karl-Heinz Herzig, James G. Wilson, Jennifer A. Brody, Renée de Mutsert, Alisa K. Manning, Anne E. Justice, Matthias B. Schulze, Sandosh Padmanabhan, Jose C. Florez, Shuang Feng, Heather M. Stringham, Bruce M. Psaty, Erwin P. Bottinger, Hannu Puolijoki, Vilmundur Gudnason, Leif Groop, Nicholas J. Wareham, Karina Meidtner, Andrew P. Morris, Taulant Muka, Benoit Hastoy, Panos Deloukas, Pirjo Komulainen, Ayse Demirkan, Francesco Cucca, Stefan Gustafsson, Eric Boerwinkle, Patrik Rorsman, Mike A. Nalls, Erik Ingelsson, Colin N. A. Palmer, Allan Linneberg, Tiinamaija Tuomi, Dan E. Arking, Steve Franks, Jonathan Marten, Mark Walker, Ruifang Li-Gao, Kai Savonen, Michael Stumvoll, Andreas Fritsche, E-Shyong Tai, Mark O. Goodarzi, Matt J. Neville, Oluf Pedersen, Eero Kajantie, Ching-Ti Liu, Michael Boehnke, Aaron Leong, Patricia B. Munroe, Patricia A. Peyser, Jessica D. Faul, John C. Chambers, John Danesh, Sirkka Keinänen-Kiukaanniemi, Giorgio Pistis, Karen L. Mohlke, Folkert W. Asselbergs, James B. Meigs, Tibor V. Varga, Erica L. Kleinbrink, Andrew T. Hattersley, Nathan A. Bihlmeyer, Harald Grallert, Albert V. Smith, Konstantin Strauch, Jerome I. Rotter, Frits R. Rosendaal
المصدر: SSRN Electronic Journal.
مصطلحات موضوعية: medicine.medical_specialty, G6PC2, pathways, Adipose tissue, Type 2 diabetes, Biology, effector transcript, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Diabetes mellitus, Internal medicine, 0502 economics and business, medicine, Glucose homeostasis, genetics, 050207 economics, 030304 developmental biology, Glycemic, 0303 health sciences, 050208 finance, Pancreatic islets, 05 social sciences, tissue, Genomics, medicine.disease, Endocrinology, medicine.anatomical_structure, chemistry, glycemic traits, Glycated hemoglobin, type 2 diabetes, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::785079dbcb50e1abe846740e443e2f2a
https://doi.org/10.2139/ssrn.3469835 -
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المؤلفون: Soren K. Thomsen, Nicola L. Beer, Mark I. McCarthy, Mahesh M. Umapathysivam, Jenny C Censin, Anna L. Gloyn, Christopher J. Groves, Xiao Qing Dai, Austin Bautista, Benoit Hastoy, Anthony Payne, Shahana Sengupta, Jocelyn E. Manning Fox, Patrick E. MacDonald, Anubha Mahajan, Anne Raimondo, P Rorsman, Anne Clark, Amy Barrett, Aliya F. Spigelman
المصدر: Nature Genetics
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, endocrine system diseases, medicine.medical_treatment, Genome-wide association study, Type 2 diabetes, Biology, Polymorphism, Single Nucleotide, Article, Cell Line, Mixed Function Oxygenases, Mice, 03 medical and health sciences, Insulin-Secreting Cells, Internal medicine, Diabetes mellitus, Insulin Secretion, parasitic diseases, Genetics, medicine, Animals, Humans, Insulin, Genetic Predisposition to Disease, Allele, Alleles, geography, geography.geographical_feature_category, HEK 293 cells, nutritional and metabolic diseases, medicine.disease, Islet, HEK293 Cells, 030104 developmental biology, Endocrinology, Diabetes Mellitus, Type 2, Cell culture, Amidine-Lyases
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المؤلفون: Anne Raimondo, Matthew G. Rees, Anna L. Gloyn
المصدر: Current Opinion in Lipidology. 26:88-95
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Carbohydrate metabolism, Biology, medicine.disease_cause, Article, Diabetes mellitus, Internal medicine, Diabetes Mellitus, Genetics, medicine, Animals, Homeostasis, Humans, Molecular Targeted Therapy, Enzyme Inhibitors, Molecular Biology, Triglycerides, Mutation, Nutrition and Dietetics, Glucokinase regulatory protein, Glucokinase, Cell Biology, Metabolism, medicine.disease, Human genetics, Glucose, Endocrinology, biology.protein, Carrier Proteins, Cardiology and Cardiovascular Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9af231170510f7fb8b9a9b4190e98638
https://doi.org/10.1097/mol.0000000000000155 -
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المؤلفون: A Clark, Austin Bautista, Nicola L. Beer, Anne Raimondo, Amy Barrett, M Umapathysivam, J. E. Manning Fox, Anna L. Gloyn, P Rorsman, Christopher J. Groves, B Hastoy, Patrick E. MacDonald, Dai X-Q., Soren K. Thomsen
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Insulin, medicine.medical_treatment, 030302 biochemistry & molecular biology, Chromogranin A, Monooxygenase, Biology, Exocytosis, Cell biology, 03 medical and health sciences, Endocrinology, Internal medicine, medicine, biology.protein, Gene silencing, Allele, Beta cell, Peptidylglycine alpha-amidating monooxygenase, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c57e350a9913128a8f2ce5ad4e66ae
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المؤلفون: Bruno Delobel, Amélie Bonnefond, Anne Raimondo, David Meyre, Fanny Stutzmann Noblet, Bénédicte Duban-Bedu, Louise Montagne, Aurélie Dechaume, David C. Bersten, Philippe Froguel, Murray L. Whitelaw
المصدر: Obesity. 22:2621-2624
مصطلحات موضوعية: Genetics, Nutrition and Dietetics, business.industry, Endocrinology, Diabetes and Metabolism, Medicine (miscellaneous), Chromosome, Overweight, medicine.disease, Obesity, Phenotype, Endocrinology, Neonatal hypotonia, SIM1, Medicine, In patient, medicine.symptom, business, Loss function
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المؤلفون: I. Sadaf Farooqi, Murray L. Whitelaw, Anne Raimondo, Philippe Froguel, John B. Bruning, Tanja A. Schwab, Daniel J. Peet, Adrienne E. Sullivan
المصدر: Biochemical Journal. 461:403-412
مصطلحات موضوعية: Models, Molecular, Aryl hydrocarbon receptor nuclear translocator, Molecular Sequence Data, Population, Hot spot (veterinary medicine), Biology, Polymorphism, Single Nucleotide, Biochemistry, Homology (biology), Databases, Genetic, Basic Helix-Loop-Helix Transcription Factors, medicine, Humans, Immunoprecipitation, Protein Interaction Domains and Motifs, Amino Acid Sequence, education, Molecular Biology, Transcription factor, Cell Nucleus, Genetics, education.field_of_study, Aryl Hydrocarbon Receptor Nuclear Translocator, Cell Biology, medicine.disease, Immunohistochemistry, Obesity, Recombinant Proteins, Repressor Proteins, Protein Transport, HEK293 Cells, Amino Acid Substitution, SIM2, Mutation, SIM1, Protein Multimerization, Sequence Alignment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::482c00fc256ab5bfead3ad289c21693a
https://doi.org/10.1042/bj20131618 -
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المؤلفون: Violeta Raverdy, Daniel J. Driscoll, Vincent Vatin, Daniel J. Peet, Jennifer L. Miller, Luc Van Gaal, Amélie Bonnefond, Shwetha Ramachandrappa, Emmanuelle Durand, Anne Raimondo, Fritz F. Horber, Olivier Lantieri, Anthony P. Goldstone, Fanny Stutzmann, David Meyre, Jacques Weill, Beverley Balkau, David C. Bersten, François Pattou, Murray L. Whitelaw, John B. Bruning, Wim Van Hul, Philippe Froguel, Maya Ghoussaini
المصدر: The journal of clinical investigation
Journal of Clinical Investigationمصطلحات موضوعية: Adult, Male, Models, Molecular, Transcriptional Activation, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, DNA Mutational Analysis, Mutation, Missense, Gene Expression, 030209 endocrinology & metabolism, Biology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genes, Reporter, Internal medicine, Basic Helix-Loop-Helix Transcription Factors, medicine, Humans, Young adult, Luciferases, Allele frequency, Genetic Association Studies, Loss function, 030304 developmental biology, 0303 health sciences, Brief Report, Case-control study, Infant, Chromosome, General Medicine, Middle Aged, medicine.disease, Obesity, Obesity, Morbid, Repressor Proteins, HEK293 Cells, Endocrinology, Case-Control Studies, Child, Preschool, SIM1, Female, Human medicine, Haploinsufficiency, Prader-Willi Syndrome
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المؤلفون: Shwetha, Ramachandrappa, Anne, Raimondo, Anna M G, Cali, Julia M, Keogh, Elana, Henning, Sadia, Saeed, Amanda, Thompson, Sumedha, Garg, Elena G, Bochukova, Soren, Brage, Victoria, Trowse, Eleanor, Wheeler, Adrienne E, Sullivan, Mehul, Dattani, Peter E, Clayton, Vipan, Datta, Vippan, Datta, John B, Bruning, Nick J, Wareham, Stephen, O'Rahilly, Daniel J, Peet, Ines, Barroso, Murray L, Whitelaw, I Sadaf, Farooqi
المصدر: Journal of Clinical Investigation; Vol 123
Journal of Clinical Investigationمصطلحات موضوعية: Male, Models, Molecular, Transcriptional Activation, Heterozygote, medicine.medical_specialty, Aryl hydrocarbon receptor nuclear translocator, Adolescent, DNA Mutational Analysis, Mutation, Missense, Gene Expression, 030209 endocrinology & metabolism, Biology, Energy homeostasis, 03 medical and health sciences, 0302 clinical medicine, Genes, Reporter, Internal medicine, Basic Helix-Loop-Helix Transcription Factors, medicine, Humans, Obesity, Child, Genetic Association Studies, Luciferases, Renilla, 030304 developmental biology, 2. Zero hunger, Genetics, 0303 health sciences, Infant, Heterozygote advantage, General Medicine, Penetrance, Body Height, Pedigree, Repressor Proteins, Melanocortin 4 receptor, HEK293 Cells, Endocrinology, Case-Control Studies, Child, Preschool, SIM1, Receptor, Melanocortin, Type 4, Female, Erratum, Melanocortin, Haploinsufficiency, Research Article