المؤلفون: EMRALINO, Francine Lianne Castaneda, エムラリノ, フランシン リアン カスタネダ

مصطلحات موضوعية: MDA5, interferonopathy, Singleton-Merten Syndrome, poly(I:C), cytokine storm

وصف الملف: application/pdf

الوصول الحر: https://ndlsearch.ndl.go.jp/books/R100000039-I12694024Test

Degree: 博士(生命科学) -- Doctor of Philosophy in Life Sciences -- 京都大学

المؤلفون: Philip Broser, Ursula von Mengershausen, Katrin Heldt, Deborah Bartholdi, Dominique Braun, Christine Wolf, Min Ae Lee-Kirsch

المصدر: Pediatric Rheumatology Online Journal, Vol 20, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Singleton Merten syndrome, Type I interferon, Therapy, Janus kinase inhibitor, Ruxolitinib, Auto inflammation, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1546-0096Test

الوصول الحر: https://doaj.org/article/6b45a43e73554bc2b076042f53de380cTest

المؤلفون: Margot Charlotte Riou, Muriel de La Dure-Molla, Stéphane Kerner, Sophie Rondeau, Adrien Legendre, Valerie Cormier-Daire, Benjamin P. J. Fournier

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: Singleton–Merten syndrome, rare diseases, oral physiopathology, genetics, type 1 interferonopathy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.875490/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/41e8a73ba13a4718821b4f8562325c78Test

المؤلفون: Wei Xiao, Jie Feng, Hongyu Long, Bo Xiao, Zhaohui H. Luo

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: Aicardi-Goutières syndrome, Singleton-Merten syndrome, IFIH1, type I IFN, autoimmunity, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.660953/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/1f81d93030ac492bb37169bd4fd2209cTest

المؤلفون: Daniel A. Balikov, Adam Jacobson, Lev Prasov

المصدر: Genes; Volume 12; Issue 9; Pages: 1403

مصطلحات موضوعية: juvenile open-angle glaucoma, pediatric glaucoma, Singleton–Merten syndrome, Aicardi–Goutieres syndrome, aniridia, mucopolysaccharidosis, Peter’s anomaly, osteogenesis imperfecta, Stickler syndrome, nanophthalmos, anterior segment dysgenesis, Axenfeld–Rieger syndrome

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12091403Test

الإتاحة: https://doi.org/10.3390/genes12091403Test

المؤلفون: Vijayakumar Gosu, Santanu Sasidharan, Prakash Saudagar, Hak-Kyo Lee, Donghyun Shin

المصدر: Biomolecules; Volume 11; Issue 8; Pages: 1251

مصطلحات موضوعية: Aicardi–Goutières syndrome, Singleton–Merten syndrome, melanoma differentiation-associated protein 5, IFIH1, molecular dynamic simulation

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Bioinformatics and Systems Biology; https://dx.doi.org/10.3390/biom11081251Test

الإتاحة: https://doi.org/10.3390/biom11081251Test

المؤلفون: Rice G. I., Park S., Gavazzi F., Adang L. A., Ayuk L. A., Van Eyck L., Seabra L., Barrea C., Battini R., Belot A., Berg S., Billette de Villemeur T., Bley A. E., Blumkin L., Boespflug-Tanguy O., Briggs T. A., Brimble E., Dale R. C., Darin N., Debray F. -G., De Giorgis V., Denecke J., Doummar D., Drake af Hagelsrum G., Eleftheriou D., Estienne M., Fazzi E., Feillet F., Galli J., Hartog N., Harvengt J., Heron B., Heron D., Kelly D. A., Lev D., Levrat V., Livingston J. H., Marti I., Mignot C., Mochel F., Nougues M. -C., Oppermann I., Perez-Duenas B., Popp B., Rodero M. P., Rodriguez D., Saletti V., Sharpe C., Tonduti D., Vadlamani G., Van Haren K., Tomas Vila M., Vogt J., Wassmer E., Wiedemann A., Wilson C. J., Zerem A., Zweier C., Zuberi S. M., Orcesi S., Vanderver A. L., Hur S., Crow Y. J.

المساهمون: Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F. -G., De Giorgis, V., Denecke, J., Doummar, D., Drake af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M. -C., Oppermann, I., Perez-Duenas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S., Crow, Y. J.

مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31898846; info:eu-repo/semantics/altIdentifier/wos/WOS:000506940000001; volume:41; issue:4; firstpage:837; lastpage:849; numberofpages:13; journal:HUMAN MUTATION; http://hdl.handle.net/11568/1071295Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078038174

الإتاحة: https://doi.org/10.1002/humu.23975Test
http://hdl.handle.net/11568/1071295Test

المؤلفون: Rice, G, Park, S, Gavazzi, F, Adang, LA, Ayuk, LA, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, de Villemeur, TB, Bley, AE, Blumkin, L, Boespflug-Tanguy, O, Briggs, TA, Brimble, E, Dale, RC, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, af Hagelsrum, GD, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B, Heron, D, Kelly, DA, Lev, D, Levrat, V, Livingston, JH, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Perez-Duenas, B, Popp, B, Rodero, MP, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Vila, MT, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, CJ, Zerem, A, Zweier, C, Zuberi, SM, Orcesi, S, Vanderver, AL, Hur, S, Crow, YJ

المصدر: Human Mutation (2020) (In press).

مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10090388/1/Rice_et_al-2020-Human_Mutation.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10090388Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10090388/1/Rice_et_al-2020-Human_Mutation.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10090388Test/

المؤلفون: Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E., Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Aicardi-Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: application/pdf

العلاقة: Human mutation; Vol. 41 (january 2020), p. 837-849; https://ddd.uab.cat/record/238258Test; urn:10.1002/humu.23975; urn:oai:ddd.uab.cat:238258; urn:pmcid:PMC7457149; urn:pmc-uid:7457149; urn:pmid:31898846; urn:articleid:10981004v41p837; urn:oai:pubmedcentral.nih.gov:7457149

الإتاحة: https://ddd.uab.cat/record/238258Test

المؤلفون: Tanaka, Atsuko, Hayano, Satoru, Nagata, Masayo, Kosami, Takahiro, Wang, Ziyi, Kamioka, Hiroshi

المصدر: Archives of Oral Biology

مصطلحات موضوعية: Type-I interferon, Janus kinase/signal transducers and activators of transcription pathway, Osteoblast, Necroptosis, Singleton-Merten Syndrome

العلاقة: info:pmid/37633030; https://ousar.lib.okayama-u.ac.jp/files/public/6/65990/2023102610221371931/fulltext20231025-02.pdfTest; AA00548457; https://ousar.lib.okayama-u.ac.jp/65990Test

الإتاحة: https://doi.org/10.1016/j.archoralbio.2023.105797Test
https://ousar.lib.okayama-u.ac.jp/files/public/6/65990/2023102610221371931/fulltext20231025-02.pdfTest
https://ousar.lib.okayama-u.ac.jp/65990Test