المؤلفون: Huang, Xingfan, Henck, Jana, Qiu, Chengxiang, Sreenivasan, Varun KA, Balachandran, Saranya, Amarie, Oana V, Hrabě de Angelis, Martin, Behncke, Rose Yinghan, Chan, Wing-Lee, Despang, Alexandra, Dickel, Diane E, Duran, Madeleine, Feuchtinger, Annette, Fuchs, Helmut, Gailus-Durner, Valerie, Haag, Natja, Hägerling, Rene, Hansmeier, Nils, Hennig, Friederike, Marshall, Cooper, Rajderkar, Sudha, Ringel, Alessa, Robson, Michael, Saunders, Lauren M, da Silva-Buttkus, Patricia, Spielmann, Nadine, Srivatsan, Sanjay R, Ulferts, Sascha, Wittler, Lars, Zhu, Yiwen, Kalscheuer, Vera M, Ibrahim, Daniel M, Kurth, Ingo, Kornak, Uwe, Visel, Axel, Pennacchio, Len A, Beier, David R, Trapnell, Cole, Cao, Junyue, Shendure, Jay, Spielmann, Malte

المصدر: Nature. 623(7988)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Mice, Cell Nucleus, Developmental Disabilities, Embryo, Mammalian, Gain of Function Mutation, Genotype, Loss of Function Mutation, Models, Genetic, Mutation, Phenotype, Single-Cell Gene Expression Analysis, Disease Models, Animal, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/39j674sqTest

المؤلفون: Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey, Holland, Steve, Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte, Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini, Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M, Slatter, Mary, Palterer, Boaz, Keller, Michael, Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher, Gray, Paul, Belot, Alexandre, Kuehn, Hye, Rosenzweig, Sergio, Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart, Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa, Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim, Landegren, Nils, Notarangelo, Luigi, Le Voyer, Tom, Parent, Audrey, Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng

المصدر: Nature. 623(7988)

مصطلحات موضوعية: Humans, Autoantibodies, COVID-19, Gain of Function Mutation, Genetic Predisposition to Disease, Heterozygote, I-kappa B Proteins, Interferon Type I, Loss of Function Mutation, NF-kappa B, NF-kappa B p52 Subunit, Pneumonia, Viral, Thymus Gland, Thyroid Epithelial Cells

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6w33j3whTest

المؤلفون: Valles Ibáñez, Guillem de

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: Casals López, Ferran, Marquès i Bonet, Tomàs

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Variants amb pèrdua de funció, Grans simis, Genòmica comparativa, Immunodeficiència comú variable, Genòmica mèdica, Loss-of-function variants, Great apes, Comparative genomics, Common variable immunodeficiency, Medical genomics

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/565404Test

المؤلفون: Wu, Zhengming, Su, Junhui, Li, Fu-Long, Chen, Tao, Mayner, Jaimie, Engler, Adam, Ma, Shenghong, Li, Qingquan, Guan, Kun-Liang

المصدر: Nature Communications. 14(1)

مصطلحات موضوعية: Animals, Humans, Mice, Antipsychotic Agents, Loss of Function Mutation, Lung Neoplasms, Mutation, Small Cell Lung Carcinoma

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9r73v868Test

المؤلفون: Ott, Nils, Faletti, Laura, Andreani, Virginia, Grimbacher, Bodo, Heeg, Maximilian

المصدر: Journal of Clinical Immunology. 43(6)

مصطلحات موضوعية: Autoimmunity, Autoinflammation, Clinical phenotype, Gain-of-function mutations, Immunodeficiency, Inborn errors of immunity, JAK/STAT signaling pathway, JAK1, JAK3, Loss-of-function mutations, STAT1, STAT3, STAT6, Humans, Gain of Function Mutation, Janus Kinases, Signal Transduction, Cytokines, STAT Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9nf3t013Test

المؤلفون: Shan Li, Yueyang Sheng, Xinyu Wang, Qianqian Wang, Ying Wang, Yanzhuo Zhang, Chengai Wu, Xu Jiang

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Multiple epiphyseal dysplasia-4 (MED-4), SLC26A2 gene, Compound heterozygous, Loss-of-function, Cartilage homeostasis, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/f792819dd23c4cb5a8aa908081510176Test

المؤلفون: Safa Meshaal, Rabab El Hawary, Dalia Abd Elaziz, Alia Eldash, Rania Darwish, Aya Erfan, Sohilla Lotfy, Mai M. Saad, Engy Chohayeb, Radwa Alkady, Jeannette Boutros, Nermeen Galal, Aisha Elmarsafy

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: CARD11, Combined immunodeficiency, CMB-complex, Loss of function, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-2441Test

الوصول الحر: https://doaj.org/article/9f413595472b4a17b17404996e4a7a9bTest

المؤلفون: Andersen K, Hansen T, Jørgensen ME, Senftleber N

المصدر: The Application of Clinical Genetics, Vol Volume 17, Pp 15-21 (2024)

مصطلحات موضوعية: inuit, genetic metabolism, sucrase-isomaltase, greenland, congenital sucrase-isomaltase deficiency, loss-of-function variant, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/healthcare-burden-in-greenland-of-gastrointestinal-symptoms-in-adults--peer-reviewed-fulltext-article-TACGTest; https://doaj.org/toc/1178-704XTest

الوصول الحر: https://doaj.org/article/16c45daacd6a4ac5b848b7fc3031af79Test

المؤلفون: Adams, William Patrick

مرشدي الرسالة: Graduate School, Poelzing, Steven, Gourdie, Robert, Lahmers, Sunshine M., Swanger, Sharon Ann

مصطلحات موضوعية: Perinexus, Intercalated Disc, Cardiac Conduction, Electrophysiology, Ephaptic Coupling, Flecainide, Channel Loss of Function

وصف الملف: ETD; application/pdf

الإتاحة: https://hdl.handle.net/10919/119281Test

المؤلفون: Zheng, Melanie, Huang, Daniel Q, Konkwo, Chigoziri, Agrawal, Saaket, Khera, Amit V, Loomba, Rohit, Vilarinho, Sílvia, Ajmera, Veeral

المصدر: JHEP Reports. 5(4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Chronic Liver Disease and Cirrhosis, Liver Disease, Digestive Diseases, Obesity, Clinical Research, Nutrition, Human Genome, Genetics, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Oral and gastrointestinal, Good Health and Well Being, NAFLD, Non-obese, Rare genetic variants, Whole exome sequencing, ALT, alanine aminotransferase, APOB, apolipoprotein B, FHBL, familial hypobetalipoproteinaemia, LOFHC, high-confidence predicted loss-of-function, MRE, magnetic resonance elastography, MRI, magnetic resonance imaging, MRI-PDFF, magnetic resonance imaging proton density fat fraction, NAFLD, non-alcoholic fatty liver disease, UCSD, University of California San Diego, WES, whole exome sequencing, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1b4342ntTest