日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes

Y染色体上生殖细胞和体细胞变异的遗传调控是导致2型糖尿病的原因之一。

Sato, Go; Yamamoto, Yuji; Sonehara, Kyuto; Saiki, Ryunosuke; Ojima, Takafumi; Kanai, Masahiro; Liu, Aoxing; Edahiro, Ryuya; Shirai, Yuya; Namba, Shinichi; Namkoong, Ho; Hasaegawa, Takanori; Koyanagi, Yuriko N; Kasugai, Yumiko; Yamaji, Taiki; Nakano, Shiori; Genovese, Giulio; Sipilä, Timo P; Ghazal, Awaisa; Tanaka, Hiromu; Azekawa, Shuhei; Uwamino, Yoshifumi; Yamamoto, Kenichi; Suzuki, Ken; Hata, Tsuyoshi; Uemura, Mamoru; Takeda, Yoshito; Kanai, Akinori; Higashiue, Shinichi; Kobayashi, Shuzo; Afuso, Hisaaki; Matsuura, Kosho; Mitsumoto, Yojiro; Fujita, Yasuhiko; Oda, Yoshiya; Suzuki, Yutaka; Morisaki, Takayuki; Ishii, Makoto; Kitagawa, Yuko; Koike, Ryuji; Kimura, Akinori; Imoto, Seiya; Miyano, Satoru; Kanai, Takanori; Takayama, Jun; Iwasaki, Motoki; Sawada, Norie; Fukunaga, Koichi; Matsuo, Keitaro; Kumanogoh, Atsushi; Doki, Yuichiro; Eguchi, Hidetoshi; Nakagome, Shigeki; Tamiya, Gen; Ganna, Andrea; Palotie, Aarno; Daly, Mark J; Wilson, James F; Yamamoto, Masayuki; Matsuda, Koichi; Ogawa, Seishi; Yamauchi, Toshimasa; Kadowaki, Takashi; Okada, Yukinori

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk

全基因组关联分析揭示了自身免疫性甲状腺功能减退症的自身免疫和甲状腺特异性因素,以及与癌症风险的负相关关系。

Reeve, Mary Pat; Kanai, Masahiro; Graham, Daniel B; Karjalainen, Juha; Luo, Shuang; Kolosov, Nikita; Adams, Cameron; Ritari, Jarmo; Karczewski, Konrad J; Kiiskinen, Tuomo; Jiang, Yu; Fuller, Zachary; Mehtonen, Juha; Kurki, Mitja I; Khan, Zia; Partanen, Jukka; McCarthy, Mark I; Artomov, Mykyta; Palotie, Aarno; Tuomi, Tiinamaija; Pirinen, Matti; Kero, Jukka; Xavier, Ramnik J; Daly, Mark J; Ripatti, Samuli

Fine-mapping a genome-wide meta-analysis of 98,374 migraine cases identifies 181 sets of candidate causal variants

对 98,374 例偏头痛病例进行全基因组荟萃分析,精细定位后发现了 181 组候选致病变异。

Hautakangas, Heidi; Kartau, Joonas; Palotie, Aarno; Pirinen, Matti

Blood donor biobank pipeline to collect genome-based samples for research

血液捐献者生物样本库流程,用于收集基于基因组的样本以开展研究

Honkanen, Jarno; Timonen, Veera A; Koski, Jessica R; Juvila, Julianna; Arvas, Mikko; Hartwall, Linnea; Kilpivaara, Outi; Rodosthenous, Rodosthenis S; Wartiovaara-Kautto, Ulla; Vuorela, Arja; Daly, Mark; Palotie, Aarno; Pitkänen, Esa; Partanen, Jukka

A novel, tissue-selective burr for temporal bone drilling

一种新型的、组织选择性颞骨钻孔钻头

Ihalainen, Laura; Iso-Mustajärvi, Matti; Linder, Pia; Dietz, Aarno

Development of the Chronic Sialadenitis Outcome Test-14 for Chronic Sialadenitis

慢性涎腺炎结局测试-14 的开发

Vartiainen, Juha; Saarinen, Riitta; Laakso, Juha; Jokela, Johanna; Haaramo, Anu; Haapaniemi, Aaro; Dietz, Aarno; Sinkkonen, Saku T

Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk

多性状分析可识别与主动脉瓣功能和主动脉瓣狭窄风险相关的遗传变异

Kany, Shinwan; Rämö, Joel T; Hou, Cody; Jurgens, Sean J; Khurshid, Shaan; Nauffal, Victor; Cunningham, Jonathan W; Lau, Emily S; Koyama, Satoshi; Ho, Jennifer E; Olgin, Jeffrey E; Elmariah, Sammy; Palotie, Aarno; Lindsay, Mark E; Ellinor, Patrick T; Pirruccello, James P

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Clinical relevance of partial HPV genotyping in cervical cancer screening

部分HPV基因分型在宫颈癌筛查中的临床意义

Leino, Aarno; Numminen, Eero; Kares, Saara; Meriö, Markus; Kotaniemi-Talonen, Laura; Kholová, Ivana; Louvanto, Karolina

Non-microglial downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease-related hallmarks.

非小胶质细胞中 PLCG2 的下调会损害突触功能,并引发阿尔茨海默病相关的特征。

Coulon Audrey, Rabiller Florian, Takalo Mari, Roy Avishek, Pelletier Alexandre, Martiskainen Henna, Siedlecki-Wullich Dolores, Lannette-Weimann Nina, Majerníková Nad'a, Grenon Arthur, Gao Vance, Erhardt Anaël, Pernodet Anne, Lemaire Morgane, Limoge Floriane, Walle Pauline, Mendes Tiago, Guyot Karine, Lemeu Célia, Carvalho Lukas-Iohan, de Farias Ana Raquel Melo, Hulsman Marc, Najdek Chloé, Freire-Regatillo Alejandra, Saha Orthis, Amouyel Philippe, Charbonnier Camille, Deleuze Jean-François, Dols-Icardo Orio, Jeskanen Heli, Willman Roosa-Maria, Kuulasmaa Teemu, Kurki Mitja, Hardy John, Heikkinen Sami, Holstege Henne, Mäkinen Petra, Nicolas Gaël, Mead Simon, Wagner Michael, Ramirez Alfredo, Rauramaa Tuomas, Palotie Aarno, Sims Rebecca, Soininen Hilkka, van Swieten John, Williams Julie, Bellenguez Céline, Gelle Carla, Lambert Erwan, Costa Marcos R, Tcw Julia, Glaab Enrico, Ayral Anne-Marie, Demiautte Florie, Grenier-Boley Benjamin, Muntaner Manon, Eberlé Delphine, Deforges Séverine, Haas Joel, Kilinc Devrim, Mulle Christophe, Chapuis Julien, Hiltunen Mikko, Dumont Julie, Lambert Jean-Charles