未登录 分享 收藏
Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis 多发性硬化症的遗传风险变异和与鞘内免疫球蛋白G合成相关的其他基因座 Pukaj, Albert; Harroud, Adil; Shchetynsky, Klementy; Wirsching, Laura; Peters, Lucy; Andlauer, Till F. M.; Paakkonen, Kimmo; Bos, Steffan D.; Moylett, Sinead; Dubois, Benedicte; Llufriu, Sara; Luessi, Felix; Tackenberg, Bjorn; Kowarik, Markus C.; Then Bergh, Florian; Trebst, Corinna; Tumani, Hayrettin; Wildemann, Brigitte; Bayas, Antonios; Havla, Joachim; Kumpfel, Tania; Knop, Matthias; Genetics Center, Regeneron; Stridh, Pernilla; Hillert, Jan A.; Olsson, Tomas; Alfredsson, Lars; Cotsapas, Chris; Flinstad Harbo, Hanne; Zipp, Frauke; Saarela, Janna; Baranzini, Sergio E.; Berthele, Achim; Kockum, Ingrid; Hemmer, Bernhard; Gasperi, Christiane 分享 收藏
分享 收藏
Pharmacogenomics of clinical response to Natalizumab in multiple sclerosis: a genome-wide multi-centric association study (vol 271, pg 7250, 2024) 多发性硬化中Natalizumab临床反应的药物基因组学：一项全基因组多中心关联研究（卷271，页7250，2024） Clarelli, Ferdinando; Corona, Andrea; Paakkonen, Kimmo; Sorosina, Melissa; Zollo, Alen; Piehl, Fredrik; Olsson, Tomas; Stridh, Pernilla; Jagodic, Maja; Hemmer, Bernhard; Gasperi, Christiane; Harroud, Adil; Shchetynsky, Klementy; Mingione, Alessandra; Mascia, Elisabetta; Misra, Kaalindi; Giordano, Antonino; Mazzieri, Maria Laura Terzi; Priori, Alberto; Saarela, Janna; Kockum, Ingrid; Filippi, Massimo; Esposito, Federica; Boneschi, Filippo Martinelli 分享 收藏
Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction 基因组测序揭示了皮质发育畸形和免疫功能障碍中的CCDC88A变异。 Lehtonen, Johanna; Hakonen, Anna H.; Hassinen, Antti; Luras, Sanne Iversen; Kaustio, Meri; Glumoff, Virpi; Hinrichsen, Francisca; Li, Weiwei; Sulonen, Anna-Maija; Wickman, Sanna; Almusa, Henrikki; Polso, Minttu; Palomaki, Maarit; Kivirikko, Sirpa; Avela, Kristiina; Heiskanen, Kaarina; Pietiainen, Vilja; Aittomaki, Kristiina; Saarela, Janna 分享 收藏
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity DOK7中创始人变体c.1508dupC的纯合性导致严重程度不同的先天性肌无力 Palmio, Johanna; Kiviranta, Panu; Hartikainen, Paivi H.; Isohanni, Pirjo; Auranen, Mari; Videman, Karoliina; Penttila, Sini; Lehtinen, Sara; Kirjavainen, Jarkko; Hintikka, Susanna; Paloviita, Katriina; Saarela, Janna; Udd, Bjarne 分享 收藏
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms 跨自身免疫性疾病的遗传图谱揭示了共享的关联和机制 Lincoln, Matthew R.; Connally, Noah; Axisa, Pierre-Paul; Gasperi, Christiane; Mitrovic, Mitja; van Heel, David; Wijmenga, Cisca; Withoff, Sebo; Jonkers, Iris H.; Padyukov, Leonid; Beecham, Ashley H.; Patsopoulos, Nikolaos A.; Cotsapas, Chris; Booth, David; Goris, An; Oturai, Annette; Saarela, Janna; Fontaine, Betrand; Hemmer, Bertrand; Claes, Martin; Zipp, Frauke; D'Alfonso, Sandra; Martinelli-Boneschi, Filippo; Taylor, Bruce; Harbo, Hanne F.; Kockum, Ingrid; Hillert, Jan; Olsson, Tomas; Oksenberg, Jorge R.; Hintzen, Rogier; Barcellos, Lisa F.; Alfredsson, Lars; Esposito, Federica; Martin, Roland; Haines, Jonathan L.; Pericak-Vance, Margaret A.; Ivinson, Adrian J.; Stewart, Graeme; Hafler, David; Hauser, Stephen L.; Compston, Alastair; Mcvean, Gil; De Jager, Philip; Sawcer, Stephen J.; Mccauley, Jakob L.; Rich, Stephen S.; Graham, Robert R.; Gaffney, Patrick M.; Langefeld, Carl D.; Vyse, Timothy J.; Hafler, David A.; Chun, Sung; Sunyaev, Shamil R.; Cotsapas, Chris 分享 收藏
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis 截断NFKB1变体会导致NLRP3炎性体激活和I型干扰素信号传导相结合，并易患坏死性筋膜炎 Nurmi, Katariina; Silventoinen, Kristiina; Keskitalo, Salla; Rajamaki, Kristiina; Kouri, Vesa-Petteri; Kinnunen, Matias; Jalil, Sami; Maldonado, Rocio; Wartiovaara, Kirmo; Nievas, Elma Ines; Denita-Juarez, Silvina Paola; Duncan, Christopher J. A.; Kuismin, Outi; Saarela, Janna; Romo, Inka; Martelius, Timi; Parantainen, Jukka; Beklen, Arzu; Bilicka, Marcelina; Matikainen, Sampsa; Nordstroem, Dan C.; Kaustio, Meri; Wartiovaara-Kautto, Ulla; Kilpivaara, Outi; Klein, Christoph; Hauck, Fabian; Jahkola, Tiina; Hautala, Timo; Varjosalo, Markku; Barreto, Goncalo; Seppanen, Mikko R. J.; Eklund, Kari K. 分享 收藏
Meeting Summary of The NYO3 5th NO-Age/AD Meeting and the 1st Norway-UK Joint Meeting on Aging and Dementia: Recent Progress on the Mechanisms and Interventional Strategies NYO3第5届NO-Age/AD会议和第1届挪威-英国老龄化和痴呆症联席会议的会议摘要: 机制和干预策略的最新进展 Wang, He-Ling; Siow, Richard; Schmauck-Medina, Tomas; Zhang, Jianying; Sandset, Per Morten; Filshie, Clare; Lund, Oystein; Partridge, Linda; Bergersen, Linda Hildegard; Juel Rasmussen, Lene; Palikaras, Konstantinos; Sotiropoulos, Ioannis; Storm-Mathisen, Jon; Rubinsztein, David C.; Spillantini, Maria Grazia; De Zeeuw, Chris, I; Watne, Leiv Otto; Vyhnalek, Martin; Veverova, Katerina; Liang, Kristina Xiao; Tavernarakis, Nektarios; Bohr, Vilhelm A.; Yokote, Koutaro; Saarela, Janna; Nilsen, Hilde; Gonos, Efstathios S.; Scheibye-Knudsen, Morten; Chen, Guobing; Kato, Hisaya; Selbaek, Geir; Fladby, Tormod; Nilsson, Per; Simonsen, Anne; Aarsland, Dag; Lautrup, Sofie; Ottersen, Ole Petter; Cox, Lynne S.; Fang, Evandro F. 分享 收藏
分享 收藏
A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma Brandt, E.; Harjama, L.; Elomaa, O.; Saarela, J.; Donner, K.; Lappalainen, K.; Kivirikko, S.; Ranki, A.; Kere, J.; Kettunen, K.; Hannula-Jouppi, K. 分享 收藏
Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia 鉴定DHX40作为结直肠和血液肿瘤的候选易感基因 Olkinuora, Alisa; Nieminen, Taina T.; Douglas, Suvi; Kauppinen, Anni; Kontro, Mika; Vaananen, Juho; Kankainen, Matti; Ristimaki, Ari; Makinen, Markus; Lahermo, Paivi; Heckman, Caroline; Saarela, Janna; Salonen, Milla; Lepisto, Anna; Jarvinen, Heikki; Mecklin, Jukka-Pekka; Kilpivaara, Outi; Wartiovaara-Kautto, Ulla; Porkka, Kimmo; Peltomaki, Paeivi 分享 收藏
Evaluation and Management of Deficiency of Adenosine Deaminase 2 An International Consensus Statement 腺苷脱氨酶2缺乏的评估和管理国际共识声明 Lee, Pui Y.; Davidson, Brad A.; Abraham, Roshini S.; Alter, Blanche; Arostegui, Juan I.; Bell, Katherine; Belot, Alexandre; Bergerson, Jenna R. E.; Bernard, Timothy J.; Brogan, Paul A.; Berkun, Yackov; Deuitch, Natalie T.; Dimitrova, Dimana; Georgin-Lavialle, Sophie A.; Gattorno, Marco; Grimbacher, Bodo; Hashem, Hasan; Hershfield, Michael S.; Ichord, Rebecca N.; Izawa, Kazushi; Kanakry, Jennifer A.; Khubchandani, Raju P.; Klouwer, Femke C. C.; Luton, Evan A.; Man, Ada W.; Meyts, Isabelle; Van Montfrans, Joris M.; Ozen, Seza; Saarela, Janna; Santo, Gustavo C.; Sharma, Aman; Soldatos, Ariane; Sparks, Rachel; Torgerson, Troy R.; Uriarte, Ignacio Leandro; Youngstein, Taryn A. B.; Zhou, Qing; Aksentijevich, Ivona; Kastner, Daniel L.; Chambers, Eugene P.; Ombrello, Amanda K. 分享 收藏
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis NFKB1 p.R157X LOF和无菌性坏死性筋膜炎家庭的炎症和中性粒细胞氧化爆发 Santaniemi, Wenny; Astrom, Pirjo; Glumoff, Virpi; Pernaa, Nora; Tallgren, Ella-Noora; Palosaari, Sanna; Nissinen, Antti; Kaustio, Meri; Kuismin, Outi; Saarela, Janna; Nurmi, Katariina; Eklund, Kari K.; Seppanen, Mikko R. J.; Hautala, Timo 分享 收藏
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign Karvonen, V; Harjama, L.; Helio, K.; Kettunen, K.; Elomaa, O.; Koskenvuo, J. W.; Kere, J.; Weckstrom, S.; Holmstrom, M.; Saarela, J.; Ranki, A.; Helio, T.; Hannula-Jouppi, K. 分享 收藏
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients (vol 41, pg 1633, 2021) Hashem, Hasan; Bucciol, Giorgia; Ozen, Seza; Unal, Sule; Bozkaya, Ikbal Ok; Akarsu, Nurten; Taskinen, Mervi; Koskenvuo, Minna; Saarela, Janna; Dimitrova, Dimana; Hickstein, Dennis D.; Hsu, Amy P.; Holland, Steven M.; Krance, Robert; Sasa, Ghadir; Kumar, Ashish R.; Mueller, Ingo; de Sousa, Monica Abreu; Delafontaine, Selket; Moens, Leen; Babor, Florian; Barzaghi, Federica; Cicalese, Maria Pia; Bredius, Robbert; van Montfrans, Joris; Baretta, Valentina; Cesaro, Simone; Stepensky, Polina; Benedicte, Neven; Moshous, Despina; Le Guenno, Guillaume; Boutboul, David; Dalal, Jignesh; Brooks, Joel P.; Dokmeci, Elif; Dara, Jasmeen; Lucas, Carrie L.; Hambleton, Sophie; Wilson, Keith; Jolles, Stephen; Koc, Yener; Gungor, Tayfun; Schnider, Caroline; Candotti, Fabio; Steinmann, Sandra; Schulz, Ansgar; Chambers, Chip; Hershfield, Michael; Ombrello, Amanda; Kanakry, Jennifer A.; Meyts, Isabelle 分享 收藏
分享 收藏
Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells IKZF2的功能缺失突变导致免疫缺陷，生发中心反应失调和MAIT细胞减少 Hetemaki, Iivo; Kaustio, Meri; Kinnunen, Matias; Heikkila, Nelli; Keskitalo, Salla; Nowlan, Kirsten; Miettinen, Simo; Sarkkinen, Joona; Glumoff, Virpi; Andersson, Noora; Kettunen, Kaisa; Vanhanen, Reetta; Nurmi, Katariina; Eklund, Kari K.; Dunkel, Johannes; Mayranpaa, Mikko I.; Schlums, Heinrich; Arstila, T. Petteri; Kisand, Kai; Bryceson, Yenan T.; Peterson, Part; Otava, Ulla; Syrjanen, Jaana; Saarela, Janna; Varjosalo, Markku; Kekalainen, Eliisa 分享 收藏
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
