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Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome
Autor: Marco L. Leung, Whitney Woodhull, Carolina Uggenti, Shauna Schord, Raul Perez Mato, Diana P. Rodriguez, Margie Ream, Yanick J. Crow, Mari Mori
Publikováno v: Leung, M L, Woodhull, W, Uggenti, C, Schord, S, Mato, R P, Rodriguez, D P, Ream, M, Crow, Y J & Mori, M 2023, ' Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome ', European journal of medical genetics, vol. 66, no. 4, pp. 104731 . https://doi.org/10.1016/j.ejmg.2023.104731
Aicardi-Goutières syndrome (AGS) is a progressive multisystem disorder including encephalopathy with significant impacts on intellectual and physical abilities. An early diagnosis is becoming ever more crucial, as targeted therapies are emerging. A
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::591d527246842213c7e9f718703dbb91
https://doi.org/10.1016/j.ejmg.2023.104731
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
Autor: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.
Publikováno v: JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30
Contains fulltext : 167711.pdf (Publisher’s version ) (Closed access) IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221714038bda1846e56d6e2e8e45f87a
http://archpsyc.jamanetwork.com/article.aspx?articleid=2471269
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Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling
Autor: Charlotte Möller, Gregory J. Buchan, Francisco J. Schopfer, Rachel E. Rigby, Hiroyuki Arai, Jonathan J. Miner, Wei Qian, Anne L. Thielke, Camilla Gunderstofte, Martin R. Jakobsen, Jan Rehwinkel, Jessica Roos, Mona Motwani, Sonia R. Salvatore, Katherine A. Fitzgerald, Marie B. Iversen, Rongtuan Lin, Raphaela Goldbach-Mansky, Christian K. Holm, Michael Rühl, Kojiro Mukai, Thorsten J. Maier, Tomohiko Taguchi, Cathrine A. Miner, Andreas S. Jakobsen, Anne-Louise S. Hansen, Emari Ogawa, David Olagnier, Sidsel D. Andersen
Publikováno v: Hansen, A L, Buchan, G J, Rühl, M, Mukai, K, Salvatore, S R, Ogawa, E, Andersen, S D, Iversen, M B, Thielke, A L, Gunderstofte, C, Motwani, M, Møller, C T, Jakobsen, A S, Fitzgerald, K A, Roos, J, Lin, R, Maier, T J, Goldbach-Mansky, R, Miner, C A, Qian, W, Miner, J J, Rigby, R E, Rehwinkel, J, Jakobsen, M R, Arai, H, Taguchi, T, Schopfer, F J, Olagnier, D & Holm, C K 2018, ' Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling ', Proceedings of the National Academy of Sciences of the United States of America, vol. 115, no. 33, pp. E7768-E7775 . https://doi.org/10.1073/pnas.1806239115
Proceedings of the National Academy of Sciences of the United States of America
Significance Several chronic inflammatory conditions have recently been shown to depend on abnormally high activity of the signaling protein stimulator of IFN genes (STING). These conditions include examples from systemic lupus erythematosus, Aicardi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc7de5e98d88f9543f4ef4e8fec446d2
https://doi.org/10.1073/pnas.1806239115
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SAMHD1 Host Restriction Factor: A Link with Innate Immune Sensing of Retrovirus Infection
Autor: John Hiscott, David Olagnier, Rongtuan Lin, Alexandre Sze, Julien van Grevenynghe
Publikováno v: Sze, A, Olagnier, D, Lin, R, van Grevenynghe, J & Hiscott, J 2013, ' SAMHD1 host restriction factor : a link with innate immune sensing of retrovirus infection ', Journal of Molecular Biology, vol. 425, no. 24, pp. 4981-94 . https://doi.org/10.1016/j.jmb.2013.10.022
SAMHD1 [sterile alpha motif and histidine-aspartic domain (HD) containing protein 1] is the most recent addition to a unique group of host restriction factors that limit retroviral replication at distinct stages of the viral life cycle. SAMHD1 is a d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abccd659b637fe0a77a2238a0eb249d
https://doi.org/10.1016/j.jmb.2013.10.022
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