المؤلفون: Sarah Alice Long, Virginia S. Muir, Britta E. Jones, Valerie Z. Wall, Alyssa Ylescupidez, Anne M. Hocking, Stephan Pribitzer, Jerill Thorpe, Bryce Fuchs, Alice E. Wiedeman, Megan Tatum, Katharina Lambert, Hannes Uchtenhagen, Cate Speake, Bernard Ng, Alexander T. Heubeck, Troy R. Torgerson, Adam K. Savage, Michael A. Maldonado, Neelanjana Ray, Vadim Khaychuk, Jinqi Liu, Peter S. Linsley, Jane H. Buckner

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, T cell exhaustion, HLA risk alleles, rheumatoid arthritis, abatacept

Relation: https://figshare.com/articles/presentation/Presentation_1_Abatacept_increases_T_cell_exhaustion_in_early_RA_individuals_who_carry_HLA_risk_alleles_pptx/25561425

الاتاحة: https://doi.org/10.3389/fimmu.2024.1383110.s001
https://figshare.com/articles/presentation/Presentation_1_Abatacept_increases_T_cell_exhaustion_in_early_RA_individuals_who_carry_HLA_risk_alleles_pptx/25561425

المؤلفون: Sarah Alice Long, Virginia S. Muir, Britta E. Jones, Valerie Z. Wall, Alyssa Ylescupidez, Anne M. Hocking, Stephan Pribitzer, Jerill Thorpe, Bryce Fuchs, Alice E. Wiedeman, Megan Tatum, Katharina Lambert, Hannes Uchtenhagen, Cate Speake, Bernard Ng, Alexander T. Heubeck, Troy R. Torgerson, Adam K. Savage, Michael A. Maldonado, Neelanjana Ray, Vadim Khaychuk, Jinqi Liu, Peter S. Linsley, Jane H. Buckner

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: T cell exhaustion, autoimmunity, HLA risk alleles, rheumatoid arthritis, abatacept, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1383110/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/848afa4859044e9fb280078686f378e7

المؤلفون: Eunice Lares-Villaseñor, Martha Guevara-Cruz, Samuel Salazar-García, Omar Granados-Portillo, Mariela Vega-Cárdenas, Miguel Ernesto Martinez-Leija, Isabel Medina-Vera, Luis E. González-Salazar, Liliana Arteaga-Sanchez, Rocío Guízar-Heredia, Karla G. Hernández-Gómez, Aurora E. Serralde-Zúñiga, Edgar Pichardo-Ontiveros, Adriana M. López-Barradas, Laura Guevara-Pedraza, Guillermo Ordaz-Nava, Azalia Avila-Nava, Armando R. Tovar, Patricia E. Cossío-Torres, Ulises de la Cruz-Mosso, Celia Aradillas-García, Diana P. Portales-Pérez, Lilia G. Noriega, Juan M. Vargas-Morales

مصطلحات موضوعية: Medicine, Genetics, Physiology, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, single nucleotide polymorphisms, serum amino acids, homeostatic model assessment, gene variants associated, assessed including measurement, amino acid metabolism, young adults based, genetic risk score, within genes associated, low grs (<, included 452 subjects, div >< p, insulin resistance based, grs based, insulin resistance, risk alleles, weinberg equilibrium, slc7a9 <, sectional study, prodh <, p <, lower levels

Relation: https://figshare.com/articles/journal_contribution/Additional_tables_/25318538

الاتاحة: https://doi.org/10.1371/journal.pone.0299543.s001
https://figshare.com/articles/journal_contribution/Additional_tables_/25318538

المؤلفون: Winston Lau, Aminah Ali, Hannah Maude, Toby Andrew, Dallas M. Swallow, Nikolas Maniatis

مصطلحات موضوعية: Genetics, Neuroscience, Ecology, Cancer, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, studying haplotype structure, used neighbouring snps, significantly associated snps, discordant imputation errors, infer missing genotypes, observed genotypes, associated variants, introducing errors, imputation errors, scaffold snps, using imputation, undoubtedly appealing, three type, statistical power, snp association, sheds light, risk alleles, reference panel, reference haplotypes, raises concerns, observed disproportionately, negative associations, majority failed

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_The_hazards_of_genotype_imputation_when_mapping_disease_susceptibility_variants/24940557

الاتاحة: https://doi.org/10.6084/m9.figshare.24940557.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_The_hazards_of_genotype_imputation_when_mapping_disease_susceptibility_variants/24940557

المؤلفون: Benedikta Diah Saraswati, Luluk Yunaini, Dwi Anita Suryandari

المصدر: Indonesian Journal of Biomedicine and Clinical Sciences; Vol 56 No 01 (2024); 82-96 ; 3032-3134

مصطلحات موضوعية: obesity, FTO, risk alleles, SNP, polymorphisms

وصف الملف: application/pdf

Relation: https://jurnal.ugm.ac.id/v3/InaJBCS/article/view/11771/3876; https://jurnal.ugm.ac.id/v3/InaJBCS/article/view/11771

الاتاحة: https://jurnal.ugm.ac.id/v3/InaJBCS/article/view/11771
https://doi.org/10.22146/inajbcs.v56i01.11771

المؤلفون: Leila Alem, Maryam Farahmandsadr, Azadeh Khayyat, Mohammad Ali Esmaeil Pour, Hamid Nasri

المصدر: Journal of Preventive Epidemiology, Vol 8, Iss 2, Pp e35223-e35223 (2023)

مصطلحات موضوعية: covid-19, focal segmental glomerulosclerosis, sars-cov-2, covid-19 associated nephropathy, podocytes, glomerulosclerosis, acute kidney injury, apol1 risk alleles, collapsing glomerulopathy, Specialties of internal medicine, RC581-951, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://jprevepi.com/PDF/jpe-8-e35223.pdf; https://doaj.org/toc/2476-3934

URL الوصول: https://doaj.org/article/2268ed8ee5924bde874cef160f0de650

المؤلفون: Moore, Camille, Blumhagen, Rachel Z, Yang, Ivana V, Walts, Avram, Powers, Julie, Walker, Tarik, Bishop, Makenna, Russell, Pamela, Vestal, Brian, Cardwell, Jonathan, Markin, Cheryl R, Mathai, Susan K, Schwarz, Marvin I, Steele, Mark P, Lee, Joyce, Brown, Kevin K, Loyd, James E, Crapo, James D, Silverman, Edwin K, Cho, Michael H, James, Judith A, Guthridge, Joel M, Cogan, Joy D, Kropski, Jonathan A, Swigris, Jeffrey J, Bair, Carol, Kim, Dong Soon, Ji, Wonjun, Kim, Hocheol, Song, Jin Woo, Maier, Lisa A, Pacheco, Karin A, Hirani, Nikhil, Poon, Azin S, Li, Feng, Jenkins, R Gisli, Braybrooke, Rebecca, Saini, Gauri, Maher, Toby M, Molyneaux, Philip L, Saunders, Peter, Zhang, Yingze, Gibson, Kevin F, Kass, Daniel J, Rojas, Mauricio, Sembrat, John, Wolters, Paul J, Collard, Harold R, Sundy, John S, O’Riordan, Thomas, Strek, Mary E, Noth, Imre, Ma, Shwu-Fan, Porteous, Mary K, Kreider, Maryl E, Patel, Namrata B, Inoue, Yoshikazu, Hirose, Masaki, Arai, Toru, Akagawa, Shinobu, Eickelberg, Oliver, Fernandez, Isis Enlil, Behr, Jürgen, Mogulkoc, Nesrin, Corte, Tamera J, Glaspole, Ian, Tomassetti, Sara, Ravaglia, Claudia, Poletti, Venerino, Crestani, Bruno, Borie, Raphael, Kannengiesser, Caroline, Parfrey, Helen, Fiddler, Christine, Rassl, Doris, Molina-Molina, Maria, Machahua, Carlos, Worboys, Ana Montes, Gudmundsson, Gunnar, Isaksson, Helgi J, Lederer, David J, Podolanczuk, Anna J, Montesi, Sydney B, Bendstrup, Elisabeth, Danchel, Vivi, Selman, Moises, Pardo, Annie, Henry, Michael T, Keane, Michael P, Doran, Peter, Vašáková, Martina, Sterclova, Martina, Ryerson, Christopher J, Wilcox, Pearce G, Okamoto, Tsukasa, Furusawa, Haruhiko, Miyazaki, Yasunari, Laurent, Geoffrey, Baltic, Svetlana, Prele, Cecilia

المصدر: American Journal of Respiratory and Critical Care Medicine. 200(2)

مصطلحات موضوعية: Human Genome, Autoimmune Disease, Clinical Research, Lung, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, ATP-Binding Cassette Transporters, Case-Control Studies, Cellular Senescence, DNA Helicases, Exoribonucleases, Female, GTPase-Activating Proteins, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, Host-Pathogen Interactions, Humans, Idiopathic Pulmonary Fibrosis, Logistic Models, Male, Mucin-5B, Promoter Regions, Genetic, Pulmonary Surfactant-Associated Protein A, Pulmonary Surfactant-Associated Protein C, RNA, Sequence Analysis, DNA, Telomerase, Telomere-Binding Proteins, targeted resequencing, idiopathic pulmonary fibrosis, genetic variants, rare variants, disease risk alleles, Medical and Health Sciences, Respiratory System

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5cw3q5dq

المؤلفون: Anjaly Joseph, Maradana Thirupathamma, Elezebeth Mathews, Manickavelu Alagu

المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Type 2 diabetes, Genetics, Marker–trait association, Risk alleles, SNP, Medicine (General), R5-920, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/9fb5e2d968474a7ca115e0510da716b4

المؤلفون: Kido, Takashi, Sikora-Wohlfeld, Weronika, Kawashima, Minae, Kikuchi, Shinichi, Kamatani, Naoyuki, Patwardhan, Anil, Chen, Richard, Sirota, Marina, Kodama, Keiichi, Hadley, Dexter, Butte, Atul J

المصدر: BMC Medical Genomics. 11(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Human Genome, 2.1 Biological and endogenous factors, Alleles, Computational Biology, Databases, Genetic, Evolution, Molecular, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Linkage Disequilibrium, GWASs, Complex diseases, Minor alleles, Risk alleles, Negative natural selection, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8bs1m49k
https://escholarship.org/content/qt8bs1m49k/qt8bs1m49k.pdf

المؤلفون: Antonio Nolano, Giovanni Battista Rossi, Valentina D’Angelo, Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5970

مصطلحات موضوعية: ATM gene, Lynch syndrome, MMR genes, uncertain significance variants, synergist effect of risk alleles

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Oncology; https://dx.doi.org/10.3390/ijms24065970

الاتاحة: https://doi.org/10.3390/ijms24065970

المؤلفون: Yuping Li, Yupeng Xie, Di Wang, Hanyan Xu, Junru Ye, Jiani C. Yin, Junjie Chen, Junrong Yan, Bin Ye, Chengshui Chen

المصدر: Frontiers in Oncology, Vol 12 (2022)

مصطلحات موضوعية: Li-Fraumeni-like syndrome, whole exome sequencing (WES), co-segregation, genetic risk alleles, POT1, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.963364/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/448e6ad78e2f45288118b8f5f268a1ca

المؤلفون: Emmanuel Acheampong, Evans Asamoah Adu, Christian Obirikorang, George Amoah, Osei Owusu Afriyie, Joseph Yorke, Enoch Odame Anto, Michael Adu Gyamfi, Emmanuella Nsenbah Acheampong, Christian Kofi Gyasi-Sarpong, Francis Agyemang Yeboah

المصدر: Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Genetic variants, Risk alleles, Prostate cancer, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/13f0bcaafc4c4cd08206c925e397ae0b

المؤلفون: Kanyawan Tiwattanon, Shobana John, Napatrupron Koomdee, Pimonpan Jinda, Jiratha Rachanakul, Thawinee Jantararoungtong, Nutthan Nuntharadthanaphong, Chiraphat Kloypan, Mohitosh Biswas, Apisit Boongird, Chonlaphat Sukasem

المصدر: Frontiers in Pharmacology, Vol 13 (2022)

مصطلحات موضوعية: carbamazepine, HLA-B risk alleles, pharmacogenomics, cutaneous adverse drug reactions, precision medicine, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2022.867490/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/3f61a444333b45d7a90cbacdc0b2b427

المؤلفون: Adrian L. Oblak, Kevin P. Kotredes, Ravi S. Pandey, Alaina M. Reagan, Cynthia Ingraham, Bridget Perkins, Christopher Lloyd, Deborah Baker, Peter B. Lin, Disha M. Soni, Andy P. Tsai, Scott A. Persohn, Amanda A. Bedwell, Kierra Eldridge, Rachael Speedy, Jill A. Meyer, Johnathan S. Peters, Lucas L. Figueiredo, Michael Sasner, Paul R. Territo, Stacey J. Sukoff Rizzo, Gregory W. Carter, Bruce T. Lamb, Gareth R. Howell

المصدر: Frontiers in Aging Neuroscience, Vol 14 (2022)

مصطلحات موضوعية: Alzheime’s disease, transcriptomics, diet, obesity, genetic risk alleles, predisposition, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnagi.2022.886575/full; https://doaj.org/toc/1663-4365

URL الوصول: https://doaj.org/article/b6814a937f1741338ed611ffbc142ff3

المؤلفون: Oelen, Roy, de Vries, Dylan H., Brugge, Harm, Gordon, M. Grace, Vochteloo, Martijn, Ye, Chun J., Westra, Harm-Jan, Franke, Lude, van der Wijst, Monique G. P.

المصدر: Single-Cell EQTLGen Consortium , Bios Consortium , Oelen , R , de Vries , D H , Brugge , H , Gordon , M G , Vochteloo , M , Ye , C J , Westra , H-J , Franke , L & van der Wijst , M G P 2022 , ' Single-cell RNA-sequencing of peripheral blood mononuclear cells reveals widespread, context-specific gene expression regulation upon pathogenic exposure ' , Nature Communications , vol. 13 , no. 1 , 3267 . https://doi.org/10.1038/s41467-022-30893-5

مصطلحات موضوعية: GENOME-WIDE ASSOCIATION, I INTERFERON, ENRICHMENT ANALYSIS, RISK ALLELES, AUTOIMMUNE, IMMUNITY, DISEASES, COMMON, LOCI

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/abea547b-fa16-47c8-b138-b720f9ea9d9a
https://research.rug.nl/en/publications/abea547b-fa16-47c8-b138-b720f9ea9d9a
https://doi.org/10.1038/s41467-022-30893-5
https://pure.rug.nl/ws/files/234429554/s41467_022_30893_5.pdf

المؤلفون: Francesca Scionti, Giuseppe Agapito, Daniele Caracciolo, Caterina Riillo, Katia Grillone, Mario Cannataro, Maria Teresa Di Martino, Pierosandro Tagliaferri, Pierfrancesco Tassone, Mariamena Arbitrio

المصدر: Cells; Volume 11; Issue 2; Pages: 189

مصطلحات موضوعية: multiple myeloma, single nucleotide polymorphism, SNP, ADME, risk alleles, hematological malignancies, DMET Plus

وصف الملف: application/pdf

Relation: Cellular Pathology; https://dx.doi.org/10.3390/cells11020189

الاتاحة: https://doi.org/10.3390/cells11020189

المؤلفون: Oblak, Adrian L., Kotredes, Kevin P., Pandey, Ravi S., Reagan, Alaina M., Ingraham, Cynthia, Perkins, Bridget, Lloyd, Christopher, Baker, Deborah, Lin, Peter B., Soni, Disha M., Tsai, Andy P., Persohn, Scott A., Bedwell, Amanda A., Eldridge, Kierra, Speedy, Rachael, Meyer, Jill A., Peters, Johnathan S., Figueiredo, Lucas L., Sasner, Michael, Territo, Paul R., Sukoff Rizzo, Stacey J., Carter, Gregory W., Lamb, Bruce T., Howell, Gareth R.

المساهمون: Radiology and Imaging Sciences, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Alzheimer’s disease, Diet, Genetic risk alleles, Obesity, Predisposition, Transcriptomics

وصف الملف: application/pdf

Relation: Frontiers in Aging Neuroscience; Oblak AL, Kotredes KP, Pandey RS, et al. Plcg2M28L Interacts With High Fat/High Sugar Diet to Accelerate Alzheimer's Disease-Relevant Phenotypes in Mice. Front Aging Neurosci. 2022;14:886575. Published 2022 Jun 24. doi:10.3389/fnagi.2022.886575; https://hdl.handle.net/1805/34577

الاتاحة: https://hdl.handle.net/1805/34577

المؤلفون: Yolandi Swart, Caitlin Uren, Paul D. van Helden, Eileen G. Hoal, Marlo Möller

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: South Africa, admixture mapping, TB susceptibility, ancestry-specific risk alleles, local ancestry adjustments, population genetics, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.716558/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/71d866852968460da040c59b33991dda

المؤلفون: Ana R. Cardoso, Mónica Lopes-Marques, Raquel M. Silva, Catarina Serrano, António Amorim, Maria J. Prata, Luísa Azevedo

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: Neurodevelopmental disorders, Brain-related genes, Deleterious mutations, de novo mutations, Polymorphisms, Risk alleles, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40246-019-0216-4; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/4ea66d79db3246b1832eea2d09d04e72

المؤلفون: Chalasani, Naga

المساهمون: Medicine, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Metabolic dysfunction-associated steatohepatitis (MASH), Risk alleles, Genetic mutations, Polygenic risk scores

وصف الملف: application/pdf

Relation: Gastroenterology & Hepatology; https://hdl.handle.net/1805/43975

الاتاحة: https://hdl.handle.net/1805/43975