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Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Background Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial... 
Allergy and Immunology | Signal transducer and activator of transcription 1 | regulatory T cell | immune dysregulation–polyendocrinopathy–enteropathy–X-linked | chronic mucocutaneous candidiasis | forkhead box protein 3 | aneurysms | immune dysregulation-polyendocrinopathy-enteropathy-X-linked | IMMUNOLOGY | DEFICIENCY | DISEASES | ALLERGY | REGULATORY T-CELLS | IPEX | EXPRESSION | IMMUNODEFICIENCY | T-Lymphocytes, Regulatory - metabolism | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Transcriptional Activation | Interleukin-17 - immunology | Child, Preschool | Male | Intestinal Diseases - immunology | Lymphocyte Subsets - immunology | T-Lymphocytes, Regulatory - immunology | Lymphocyte Subsets - metabolism | STAT1 Transcription Factor - metabolism | Genes, Dominant | Th17 Cells - metabolism | Interleukins - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Phosphorylation - drug effects | Child | Intestinal Diseases - genetics | Immunophenotyping | DNA - metabolism | Forkhead Transcription Factors - genetics | STAT1 Transcription Factor - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Interferon-alpha - immunology | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Autoantibodies - immunology | Phenotype | Adolescent | Th17 Cells - immunology | Mutation | Cell Line, Transformed | Interferon-gamma - pharmacology | Autoimmunity | Medical colleges | Invisibility | Molecular genetics | Mycoses | Aneurysms | Genetic aspects | Children | Health aspects
Journal Article
Science (American Association for the Advancement of Science), ISSN 0036-8075, 11/2011, Volume 334, Issue 6057, pp. 814 - 817
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2007, Volume 316, Issue 5829, pp. 1331 - 1336
New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight into disease etiology. We analyzed 386,731 common... 
Biomedical research | Introns | Medical genetics | P values | Genetic loci | Hospital units | Reports | Diabetes | Type 2 diabetes mellitus | Chromosomes | Research universities | OVEREXPRESSION | POPULATION | RISK LOCI | VARIANTS | GENE | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | MACULAR DEGENERATION | GLUCOKINASE | RNA-BINDING PROTEIN | AGE | Haplotypes | Insulin-Like Growth Factor Binding Proteins - genetics | Genetic Predisposition to Disease | Meta-Analysis as Topic | Blood Glucose - analysis | Quantitative Trait, Heritable | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Genotype | Male | Chromosome Mapping | Genetic Markers | Case-Control Studies | Chromosomes, Human, Pair 9 - genetics | Adaptor Proteins, Signal Transducing - genetics | Alleles | Insulin Resistance - genetics | Triglycerides - blood | Female | Aged | Polymorphism, Single Nucleotide | Genome, Human | Type 2 diabetes | Genetic aspects | Research | Risk factors | Proteins | Disease prevention | Genomics | Medical treatment | Lipids | Metabolism | Other Clinical Medicine | Basic Medicine | Hälsovetenskap | Medical and Health Sciences | Medicin och hälsovetenskap | Public Health, Global Health, Social Medicine and Epidemiology | Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi | Klinisk medicin | Läkemedelskemi | Medicinal Chemistry | Clinical Medicine | Endokrinologi och diabetes | Medicinska och farmaceutiska grundvetenskaper | Annan klinisk medicin | Health Sciences | Endocrinology and Diabetes
Journal Article
Nature communications, ISSN 2041-1723, 2020, Volume 11, Issue 1, pp. 655 - 655
The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge.... 
R/BIOCONDUCTOR PACKAGE | DATABASE | VARIANTS | IMPC | MULTIDISCIPLINARY SCIENCES | UPDATE | GENOME | Animals | Disease - genetics | Genomics | Humans | Genetic Association Studies - methods | Mice | Genes, Essential | Mice, Knockout | Biological properties | Cell survival | Disease | Genes | Disorders | Genomes | Gene sequencing | Consortia | Intolerance | Species classification | Phenotyping | Cell lines | Viability | Index Medicus
Journal Article
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by Tuijnenburg, Paul and Lango Allen, Hana and Burns, Siobhan O and Greene, Daniel and Jansen, Machiel H and Staples, Emily and Stephens, Jonathan and Carss, Keren J and Biasci, Daniele and Baxendale, Helen and Thomas, Moira and Chandra, Anita and Kiani-Alikhan, Sorena and Longhurst, Hilary J and Seneviratne, Suranjith L and Oksenhendler, Eric and Simeoni, Ilenia and de Bree, Godelieve J and Tool, Anton T.J and van Leeuwen, Ester M.M and Ebberink, Eduard H.T.M and Meijer, Alexander B and Tuna, Salih and Whitehorn, Deborah and Brown, Matthew and Turro, Ernest and Thrasher, Adrian J and Smith, Kenneth G.C and Thaventhiran, James E and Kuijpers, Taco W and Adhya, Zoe and Alachkar, Hana and Anantharachagan, Ariharan and Antrobus, Richard and Arumugakani, Gururaj and Bacchelli, Chiara and Bethune, Claire and Bibi, Shahnaz and Boardman, Barbara and Booth, Claire and Browning, Michael and Brownlie, Mary and Burns, Siobhan and Clifford, Hayley and Cooper, Nichola and Davies, Sophie and Dempster, John and Devlin, Lisa and Doffinger, Rainer and Drewe, Elizabeth and Edgar, David and Egner, William and El-Shanawany, Tariq and Gaspar, Bobby and Ghurye, Rohit and Gilmour, Kimberley and Goddard, Sarah and Gordins, Pavel and Grigoriadou, Sofia and Hackett, Scott and Hague, Rosie and Harper, Lorraine and Hayman, Grant and Herwadkar, Archana and Hughes, Stephen and Huissoon, Aarnoud and Jolles, Stephen and Jones, Julie and Kelleher, Peter and Klein, Nigel and Kuijpers, Taco and Kumararatne, Dinakantha and Laffan, James and Lango Allen, Hana and Lear, Sara and Longhurst, Hilary and Lorenzo, Lorena and Maimaris, Jesmeen and Manson, Ania and McDermott, Elizabeth and Millar, Hazel and Mistry, Anoop and Morrisson, Valerie and Murng, Sai and Nasir, Iman and Nejentsev, Sergey and Noorani, Sadia and Ponsford, Mark and Qasim, Waseem and Quinn, Ellen and Quinti, Isabella and Richter, Alex and Samarghitean, Crina and Sargur, Ravishankar and Savic, Sinisa and Seneviratne, Suranjith and Sewall, Carrock and Shackley, Fiona and Stauss, Hans and Steele, Cathal and ... and NIHR BioResource–Rare Diseases Consortium and NIHR BioResource-Rare Dis
Journal of allergy and clinical immunology, ISSN 0091-6749, 2018, Volume 142, Issue 4, pp. 1285 - 1296
Journal Article
by Weinstock, George M and Robinson, Gene E and Gibbs, Richard A and Worley, Kim C and Evans, Jay D and Maleszka, Ryszard and Robertson, Hugh M and Weaver, Daniel B and Beye, Martin and Bork, Peer and Elsik, Christine G and Hartfelder, Klaus and Hunt, Greg J and Zdobnov, Evgeny M and Amdam, Gro V and Bitondi, Mrcia M. G and Collins, Anita M and Cristino, Alexandre S and Lattorff, H. Michael G and Lobo, Carlos H and Moritz, Robin F. A and Nunes, Francis M. F and Page Jr, Robert E and Simões, Zilá L. P and Wheeler, Diana and Carninci, Piero and Fukuda, Shiro and Hayashizaki, Yoshihide and Kai, Chikatoshi and Kawai, Jun and Sakazume, Naoko and Sasaki, Daisuke and Tagami, Michihira and Albert, Stefan and Baggerman, Geert and Beggs, Kyle T and Bloch, Guy and Cazzamali, Giuseppe and Cohen, Mira and Drapeau, Mark David and Eisenhardt, Dorothea and Emore, Christine and Ewing, Michael A and Fahrbach, Susan E and Forêt, Sylvain and Grimmelikhuijzen, Cornelis J. P and Hauser, Frank and Hummon, Amanda B and Huybrechts, Jurgen and Jones, Andrew K and Kadowaki, Tatsuhiko and Kaplan, Noam and Kucharski, Robert and Leboulle, Grard and Linial, Michal and Littleton, J. Troy and Mercer, Alison R and Richmond, Timothy A and Rodriguez-Zas, Sandra L and Rubin, Elad B and Sattelle, David B and Schlipalius, David and Schoofs, Liliane and Shemesh, Yair and Sweedler, Jonathan V and Velarde, Rodrigo and Verleyen, Peter and Vierstraete, Evy and Williamson, Michael R and Ament, Seth A and Brown, Susan J and Corona, Miguel and Dearden, Peter K and Dunn, W. Augustine and Elekonich, Michelle M and Fujiyuki, Tomoko and Gattermeier, Irene and Gempe, Tanja and Hasselmann, Martin and Kage, Eriko and Kamikouchi, Azusa and Kubo, Takeo and Kunieda, Takekazu and Lorenzen, Marcé and Milshina, Natalia V and Morioka, Mizue and Ohashi, Kazuaki and Overbeek, Ross and Ross, Christian A and Schioett, Morten and Shippy, Teresa and Takeuchi, Hideaki and Toth, Amy L and Willis, Judith H and Wilson, Megan J and Gordon, Karl H. J and Letunic, Ivica and Hackett, Kevin and Peterson, Jane and Felsenfeld, Adam and ... and unav and Honeybee Genome Sequencing Consort and Honeybee Genome Sequencing Consortium and The Honeybee Genome Sequencing Consortium
Nature (London), ISSN 1476-4687, 2006, Volume 443, Issue 7114, pp. 931 - 949
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