المؤلفون: Lalaoui, Najoua, Boyden, Steven E, Oda, Hirotsugu, Wood, Geryl M, Stone, Deborah L, Chau, Diep, Liu, Lin, Stoffels, Monique, Kratina, Tobias, Lawlor, Kate E, Zaal, Kristien JM, Hoffmann, Patrycja M, Etemadi, Nima, Shield-Artin, Kristy, Biben, Christine, Tsai, Wanxia Li, Blake, Mary D, Kuehn, Hye Sun, Yang, Dan, Anderton, Holly, Silke, Natasha, Wachsmuth, Laurens, Zheng, Lixin, Moura, Natalia Sampaio, Beck, David B, Gutierrez-Cruz, Gustavo, Ombrello, Amanda K, Pinto-Patarroyo, Gineth P, Kueh, Andrew J, Herold, Marco J, Hall, Cathrine, Wang, Hongying, Chae, Jae Jin, Dmitrieva, Natalia I, McKenzie, Mark, Light, Amanda, Barham, Beverly K, Jones, Anne, Romeo, Tina M, Zhou, Qing, Aksentijevich, Ivona, Mullikin, James C, Gross, Andrew J, Shum, Anthony K, Hawkins, Edwin D, Masters, Seth L, Lenardo, Michael J, Boehm, Manfred, Rosenzweig, Sergio D, Pasparakis, Manolis, Voss, Anne K, Gadina, Massimo, Kastner, Daniel L, Silke, John

المصدر: Nature. 577(7788)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Prevention, Pediatric, Autoimmune Disease, 2.1 Biological and endogenous factors, Inflammatory and immune system, Animals, Caspase 3, Caspase 8, Female, Hereditary Autoinflammatory Diseases, Humans, MAP Kinase Kinase Kinases, Male, Mice, Mice, Inbred C57BL, Mice, Knockout, Mutation, Pedigree, Receptor-Interacting Protein Serine-Threonine Kinases, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/29j5t358
https://escholarship.org/content/qt29j5t358/qt29j5t358.pdf

المؤلفون: Cheng, Kunrong, Chahdi, Ahmed, Larabee, Shannon M., Tolaymat, Mazen, Sundel, Margaret H., Drachenberg, Cinthia B., Zhan, Min, Hu, Shien, Said, Anan H., Shang, Aaron C., Xie, Guofeng, Alizadeh, Madeline, Moura, Natalia Sampaio, Bafford, Andrea C., Williams, Richelle T., Hanna, Nader N., Raufman, Jean-Pierre

المصدر: Scientific Reports ; volume 13, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-023-44158-8
https://www.nature.com/articles/s41598-023-44158-8.pdf
https://www.nature.com/articles/s41598-023-44158-8

المؤلفون: Barron, Karyl S., Aksentijevich, Ivona, Deuitch, Natalie T., Stone, Deborah L., Hoffmann, Patrycja, Videgar-Laird, Ryan, Soldatos, Ariane, Bergerson, Jenna, Toro, Camilo, Cudrici, Cornelia, Nehrebecky, Michele, Romeo, Tina, Jones, Anne, Boehm, Manfred, Kanakry, Jennifer A., Dimitrova, Dimana, Calvo, Katherine R., Alao, Hawwa, Kapuria, Devika, Ben-Yakov, Gil, Pichard, Dominique C., Hathaway, Londa, Brofferio, Alessandra, McRae, Elisa, Moura, Natalia Sampaio, Schnappauf, Oskar, Rosenzweig, Sofia, Heller, Theo, Cowen, Edward W., Kastner, Daniel L., Ombrello, Amanda K.

المصدر: Frontiers in Immunology ; volume 12 ; ISSN 1664-3224

الاتاحة: http://dx.doi.org/10.3389/fimmu.2021.811473
https://www.frontiersin.org/articles/10.3389/fimmu.2021.811473/full

المؤلفون: Sparks, Rachel, Rachmaninoff, Nicholas, Lau, William W., Hirsch, Dylan C., Bansal, Neha, Martins, Andrew J., Chen, Jinguo, Liu, Candace C., Cheung, Foo, Failla, Laura E., Biancotto, Angelique, Fantoni, Giovanna, Sellers, Brian A., Chawla, Daniel G., Howe, Katherine N., Mostaghimi, Darius, Farmer, Rohit, Kotliarov, Yuri, Calvo, Katherine R., Palmer, Cindy, Daub, Janine, Foruraghi, Ladan, Kreuzburg, Samantha, Treat, Jennifer D., Urban, Amanda K., Jones, Anne, Romeo, Tina, Deuitch, Natalie T., Moura, Natalia Sampaio, Weinstein, Barbara, Moir, Susan, Ferrucci, Luigi, Barron, Karyl S., Aksentijevich, Ivona, Kleinstein, Steven H., Townsley, Danielle M., Young, Neal S., Frischmeyer-Guerrerio, Pamela A., Uzel, Gulbu, Pinto-Patarroyo, Gineth Paola, Cudrici, Cornelia D., Hoffmann, Patrycja, Stone, Deborah L., Ombrello, Amanda K., Freeman, Alexandra F., Zerbe, Christa S., Kastner, Daniel L., Holland, Steven M., Tsang, John S.

المصدر: Nature Medicine; September 2024, Vol. 30 Issue: 9 p2461-2472, 12p

المؤلفون: Moura, Natalia Sampaio, Schledwitz, Alyssa, Cheng, Kunrong, Raufman, Jean-Pierre

المصدر: Gastroenterology ; volume 166, issue 5, page S-586-S-587 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(24)01818-3
https://api.elsevier.com/content/article/PII:S0016508524018183?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508524018183?httpAccept=text/plain

المؤلفون: Moura, Natalia Sampaio, Schledwitz, Alyssa, Kwon, Min S., Chatain, Oscar, Cairns, Cassandra A., Njei, Lea-Pearl N., Raufman, Benjamin, Drachenberg, Cinthia B., Cheng, Kunrong, Wang, Jian-Ying, Raufman, Jean-Pierre

المصدر: Gastroenterology ; volume 166, issue 5, page S-160 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(24)00859-x
https://api.elsevier.com/content/article/PII:S001650852400859X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S001650852400859X?httpAccept=text/plain

المؤلفون: Moura, Natalia Sampaio, Cheng, Kunrong, Sundel, Margaret, Raufman, Jean-Pierre

المصدر: Gastroenterology ; volume 166, issue 5, page S-982-S-983 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(24)02736-7
https://api.elsevier.com/content/article/PII:S0016508524027367?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508524027367?httpAccept=text/plain

المؤلفون: Schnappauf, Oskar, Zhou, Qing, Moura, Natalia Sampaio, Ombrello, Amanda K, Michael, Drew G, Deuitch, Natalie, Barron, Karyl, Stone, Deborah L, Hoffmann, Patrycja, Hershfield, Michael, Applegate, Carolyn, Bjornsson, Hans T, Beck, David B, Witmer, P Dane, Sobreira, Nara, Wohler, Elizabeth, Chiorini, John A, Center, The American Genome, Dalgard, Clifton L, Center, Nih Intramural Sequencing, Kastner, Daniel L, Aksentijevich, Ivona

المساهمون: 1Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA. oskar.schnappauf@nih.gov. 2Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute (NHGRI), Bethesda, MD, USA. 3Department of Laboratory Medicine, Center for Genetic Medicine Research, Children's National, Washington, DC, USA. 4National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. 5Department of Medicine and Biochemistry, Duke University School of Medicine, Durham, NC, USA. 6McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 7Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 8Landspitali University Hospital, Reykjavik, Iceland. 9Molecular Physiology and Therapeutics Branch, National Institute of Dental and Craniofacial Research (NIDCR), Bethesda, MD, USA. 10Collaborative Health Initiative Research Program, Henry Jackson Foundation, Bethesda, MD, USA. 11Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

المصدر: Journal of clinical immunology ; 40 ; 6 ; 917 ; 926 ; United States ; Netherlands

مصطلحات موضوعية: Exome sequencing, deficiency of adenosine deaminase 2, genome sequencing, loss-of-function variants

Relation: https://link.springer.com/article/10.1007/s10875-020-00817-3; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7416912/; Schnappauf O, Zhou Q, Moura NS, et al. Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. J Clin Immunol. 2020;40(6):917-926. doi:10.1007/s10875-020-00817-3; http://hdl.handle.net/2336/621503; Journal of clinical immunology

الاتاحة: http://hdl.handle.net/2336/621503
https://doi.org/10.1007/s10875-020-00817-3

المؤلفون: Moura, Natalia Sampaio, Cheng, Kunrong, Drachenberg, Cinthia B., Schledwitz, Alyssa, Sundel, Margaret, Raufman, Jean-Pierre

المصدر: Gastroenterology ; volume 164, issue 6, page S-998-S-999 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(23)03316-4
https://api.elsevier.com/content/article/PII:S0016508523033164?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508523033164?httpAccept=text/plain

المؤلفون: Sundel, Margaret, Cheng, Kunrong, Hu, Shien, Larabee, Shannon M., Moura, Natalia Sampaio, Schledwitz, Alyssa, Raufman, Jean-Pierre

المصدر: Gastroenterology ; volume 164, issue 6, page S-558-S-559 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(23)02291-6
https://api.elsevier.com/content/article/PII:S0016508523022916?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508523022916?httpAccept=text/plain

المؤلفون: Schledwitz, Alyssa, Moura, Natalia Sampaio, Cheng, Kunrong, Drachenberg, Cinthia B., Sundel, Margaret, Raufman, Jean-Pierre

المصدر: Gastroenterology ; volume 164, issue 6, page S-560 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(23)02297-7
https://api.elsevier.com/content/article/PII:S0016508523022977?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508523022977?httpAccept=text/plain

المؤلفون: Deuitch, Natalie T., Yang, Dan, Lee, Pui Y., Yu, Xiaomin, Moura, Natalia Sampaio, Schnappauf, Oskar, Ombrello, Amanda K., Stone, Deborah, Kuehn, Hye Sun, Rosenzweig, Sergio D., Hoffmann, Patrycja, Cudrici, Cornelia, Levy, Deborah M., Kessler, Elizabeth, Soep, Jennifer B., Hay, Arielle D., Dalrymple, Austin, Zhang, Yu, Sun, Li, Zhang, Qiuye, Tang, Xuemei, Wu, Yuan, Rao, Koneti, Li, Haibo, Luo, Hong, Zhang, Yao, Burnham, Jon M., Boehm, Manfred, Barron, Karyl, Kastner, Daniel L., Aksentijevich, Ivona, Zhou, Qing

المصدر: The Journal of Allergy and Clinical Immunology ; ISSN 0091-6749

مصطلحات موضوعية: ddc:570

Relation: https://pub.h-brs.de/frontdoor/index/index/docId/7457

الاتاحة: https://pub.h-brs.de/frontdoor/index/index/docId/7457

المؤلفون: Barron, Karyl S., Aksentijevich, Ivona, Deuitch, Natalie T., Stone, Deborah L., Hoffmann, Patrycja, Videgar-Laird, Ryan, Soldatos, Ariane, Bergerson, Jenna, Toro, Camilo, Cudrici, Cornelia, Nehrebecky, Michele, Romeo, Tina, Jones, Anne, Boehm, Manfred, Kanakry, Jennifer A., Dimitrova, Dimana, Calvo, Katherine R., Alao, Hawwa, Kapuria, Devika, Ben-Yakov, Gil, Pichard, Dominique C., Hathaway, Londa, Brofferio, Alessandra, McRae, Elisa, Moura, Natalia Sampaio, Schnappauf, Oskar, Rosenzweig, Sofia, Heller, Theo, Cowen, Edward W., Kastner, Daniel L., Ombrello, Amanda K.

المصدر: Frontiers in Immunology ; ISSN 1664-3224

مصطلحات موضوعية: ddc:570

Relation: https://pub.h-brs.de/frontdoor/index/index/docId/7458

الاتاحة: https://pub.h-brs.de/frontdoor/index/index/docId/7458

المؤلفون: Schnappauf, Oskar, Wang, Hongying, Deuitch, Natalie, Moura, Natalia Sampaio, Rosenzweig, Sofia, Cardona, Daniela Ospina, Hoffmann, Patrycja, Stone, Deborah, Ombrello, Amanda, Kastner, Daniel, Aksentijevich, Ivona

المصدر: Molecular Genetics and Metabolism ; volume 132, page S276-S277 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00508-4
https://api.elsevier.com/content/article/PII:S1096719221005084?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221005084?httpAccept=text/plain

المؤلفون: Gans, Melissa D., Wang, Hongying, Moura, Natalia Sampaio, Aksentijevich, Ivona, Rubinstein, Arye

المساهمون: National Human Genome Research Institute

المصدر: Journal of Clinical Immunology ; volume 40, issue 7, page 1041-1044 ; ISSN 0271-9142 1573-2592

الاتاحة: http://dx.doi.org/10.1007/s10875-020-00823-5
https://link.springer.com/content/pdf/10.1007/s10875-020-00823-5.pdf
https://link.springer.com/article/10.1007/s10875-020-00823-5/fulltext.html

المؤلفون: Dimachkie, Mohamad Dave, Fraga, Garth R., Moura, Natalia Sampaio, Springer, Jason M.

المصدر: JCR: Journal of Clinical Rheumatology ; volume 27, issue 7, page e251-e252 ; ISSN 1536-7355 1076-1608

الاتاحة: http://dx.doi.org/10.1097/rhu.0000000000001384
https://journals.lww.com/10.1097/RHU.0000000000001384

المؤلفون: Lalaoui, Najoua, Boyden, Steven E., Oda, Hirotsugu, Wood, Geryl M., Stone, Deborah L., Chau, Diep, Liu, Lin, Stoffels, Monique, Kratina, Tobias, Lawlor, Kate E., Zaal, Kristien J. M., Hoffmann, Patrycja M., Etemadi, Nima, Shield-Artin, Kristy, Biben, Christine, Tsai, Wanxia Li, Blake, Mary D., Kuehn, Hye Sun, Yang, Dan, Anderton, Holly, Silke, Natasha, Wachsmuth, Laurens, Zheng, Lixin, Moura, Natalia Sampaio, Beck, David B., Gutierrez-Cruz, Gustavo, Ombrello, Amanda K., Pinto-Patarroyo, Gineth P., Kueh, Andrew J., Herold, Marco J., Hall, Cathrine, Wang, Hongying, Chae, Jae Jin, Dmitrieva, Natalia I., McKenzie, Mark, Light, Amanda, Barham, Beverly K., Jones, Anne, Romeo, Tina M., Zhou, Qing, Aksentijevich, Ivona, Mullikin, James C., Gross, Andrew J., Shum, Anthony K., Hawkins, Edwin D., Masters, Seth L., Lenardo, Michael J., Boehm, Manfred, Rosenzweig, Sergio D., Pasparakis, Manolis

المصدر: Nature ; volume 577, issue 7788, page 103-108 ; ISSN 0028-0836 1476-4687

الاتاحة: http://dx.doi.org/10.1038/s41586-019-1828-5
https://www.nature.com/articles/s41586-019-1828-5.pdf
https://www.nature.com/articles/s41586-019-1828-5

المؤلفون: Dimachkie, Mohamad Dave, Fraga, Garth R., Moura, Natalia Sampaio, Springer, Jason M.

المصدر: JRC: Journal of Clinical Rheumatology; Oct2021, Vol. 27 Issue 7, pe251-e252, 2p

المؤلفون: Schnappauf, Oskar (AUTHOR), Wang, Hongying (AUTHOR), Deuitch, Natalie (AUTHOR), Moura, Natalia Sampaio (AUTHOR), Rosenzweig, Sofia (AUTHOR), Cardona, Daniela Ospina (AUTHOR), Hoffmann, Patrycja (AUTHOR), Stone, Deborah (AUTHOR), Ombrello, Amanda (AUTHOR), Kastner, Daniel (AUTHOR), Aksentijevich, Ivona (AUTHOR)

المصدر: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS276-S277. 2p.

مصطلحات موضوعية: *PATIENTS, *NLRP3 protein, *AUTOINFLAMMATORY diseases