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

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology

罕见基因变异会增加患注意力缺陷多动障碍(ADHD)的风险,并与神经元生物学有关。

Demontis, Ditte; Duan, Jinjie; Hsu, Yu-Han H; Pintacuda, Greta; Grove, Jakob; Nielsen, Trine Tollerup; Thirstrup, Janne; Martorana, Makayla; Botts, Travis; Satterstrom, F Kyle; Bybjerg-Grauholm, Jonas; Tsai, Jason H Y; Glerup, Simon; Hoogman, Martine; Buitelaar, Jan; Klein, Marieke; Ziegler, Georg C; Jacob, Christian; Grimm, Oliver; Bayas, Maximilian; Kobayashi, Nene F; Kittel-Schneider, Sarah; Lesch, Klaus-Peter; Franke, Barbara; Reif, Andreas; Agerbo, Esben; Werge, Thomas; Nordentoft, Merete; Mors, Ole; Mortensen, Preben Bo; Lage, Kasper; Daly, Mark J; Neale, Benjamin M; Børglum, Anders D

Ancestry and somatic profile indicate acral melanoma origin and prognosis

祖先和体细胞特征提示肢端黑色素瘤的起源和预后

Basurto-Lozada, Patricia; Vázquez-Cruz, Martha Estefania; Molina-Aguilar, Christian; Jiang, Amanda; Deacon, Dekker C; Cerrato-Izaguirre, Dennis; Simonin-Wilmer, Irving; Arriaga-González, Fernanda G; Contreras-Ramírez, Kenya L; Ferro-Rodríguez, Emiliano; Billington, Jamie; Dawson, Eric T; Wong-Ramirez, J Rene C; Ramos-Galguera, Johana Itzel; Álvarez-Cano, Alethia; García-Ortega, Dorian Y; García-Salinas, O Isaac; Hidalgo-Miranda, Alfredo; Cisneros-Villanueva, Mireya; Johansson, Peter A; Martínez-Said, Héctor; Gallego-García, Pilar; Arends, Mark J; Ferreira, Ingrid; Tullett, Mark; Olvera-León, Rebeca; van der Weyden, Louise; Del Castillo Velasco-Herrera, Martín; Roldán-Marín, Rodrigo; Vidaurri de la Cruz, Helena; Tavares-de-la-Paz, Luis Alberto; Hinojosa-Ugarte, Diego; Belote, Rachel L; Bishop, D Timothy; Díaz-Gay, Marcos; Alexandrov, Ludmil B; Sánchez-Pérez, Yesennia; In, Gino K; White, Richard M; Possik, Patrícia A; Judson-Torres, Robert L; Adams, David J; Robles-Espinoza, Carla Daniela

The oncogenome of the domestic cat

家猫的癌基因组

Francis, Bailey A; Ludwig, Latasha; He, Chang; Dobromylskyj, Melanie; Bertram, Christof A; Aupperle-Lellbach, Heike; Wong, Hannah; Foster, Aiden P; Arends, Mark J; Suárez-Bonnet, Alejandro; Priestnall, Simon L; Tatiersky, Laetitia; Castillo-Alcala, Fernanda; Rupp, Angie; Khachadoorian, Arlene; Parlak, Eda; Inglebert, Marine; Umamaheswaran, Shevaniee; Cheema, Saamin; Del Castillo Velasco-Herrera, Martin; Wong, Kim; Vermes, Ian C; Billington, Jamie; Rottenberg, Sven; Wood, Geoffrey A; Adams, David J; van der Weyden, Louise

Stress-induced sympathetic hyperactivation drives hair follicle necrosis to trigger autoimmunity

应激诱发的交感神经过度激活导致毛囊坏死,进而引发自身免疫性疾病。

Emily Scott-Solomon,Shlomi Brielle,Alexander O Mann,Mark J Khoury,Jingyu Peng,Liana Tellez,Mackenzie Harrigan,Myrto Ziogas,H Amalia Pasolli,Monica Cassandras,Adam J Getzler,Rebecca Freeman,Bing Zhang,Yulia Shwartz,Judith Agudo,Ruth A Franklin,Ya-Chieh Hsu

Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases

全球多族裔全基因组分析鉴定出与甲状腺癌和良性甲状腺疾病相关的基因和生物学通路

White, Samantha L; Brasher, Maizy S; Pattee, Jack; Zhou, Wei; Chapman, Sinéad; Jee, Yon Ho; Bell, Caitlin C; Jamil, Taylor L; Barrio, Martin; Arehart, Christopher H; Evans, Luke M; Hirbo, Jibril; Cox, Nancy J; Straub, Peter; Namba, Shinichi; Bertucci-Richter, Emily; Guare, Lindsay; Edris, Ahmed; Morris, Sam; Mulford, Ashley J; Zhang, Haoyu; Fennessy, Brian; Tobin, Martin D; Chen, Jing; Williams, Alexander T; John, Catherine; van Heel, David A; Mathur, Rohini; Finer, Sarah; Moksnes, Marta R; Brumpton, Ben M; Åsvold, Bjørn Olav; Peculis, Raitis; Rovite, Vita; Konrade, Ilze; Wang, Ying; Crooks, Kristy; Chavan, Sameer; Fisher, Matthew J; Rafaels, Nicholas; Lin, Meng; Shortt, Jonathan A; Sanders, Alan R; Whiteman, David C; MacGregor, Stuart; Medland, Sarah E; Thorsteinsdóttir, Unnur; Stefánsson, Kári; Karaderi, Tugce; Egan, Kathleen M; Bocklage, Therese; McCrary, Hilary C; Riedlinger, Gregory; Salhia, Bodour; Shriver, Craig; Phan, Minh D; Farlow, Janice L; Edge, Stephen; Kaur, Varinder; Churchman, Michelle L; Rounbehler, Robert J; Brock, Pamela L; Ringel, Matthew D; Pividori, Milton; Schweppe, Rebecca; Raeburn, Christopher D; Walters, Robin G; Chen, Zhengming; Li, Liming; Matsuda, Koichi; Okada, Yukinori; Zöllner, Sebastian; Verma, Anurag; Preuss, Michael H; Kenny, Eimear; Hendricks, Audrey E; Fishbein, Lauren; Kraft, Peter; Daly, Mark J; Neale, Benjamin M; Martin, Alicia R; Cole, Joanne B; Haugen, Bryan R; Gignoux, Christopher R; Pozdeyev, Nikita

Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling

一项针对122341名欧洲血统患者的主要焦虑症的全基因组关联研究,发现了58个基因位点,并强调了GABA能信号传导的作用。

Strom, Nora I; Verhulst, Brad; Bacanu, Silviu-Alin; Cheesman, Rosa; Purves, Kirstin L; Gedik, Hüseyin; Mitchell, Brittany L; Kwong, Alex S; Faucon, Annika B; Singh, Kritika; Medland, Sarah; Colodro-Conde, Lucia; Krebs, Kristi; Hoffmann, Per; Herms, Stefan; Gehlen, Jan; Ripke, Stephan; Awasthi, Swapnil; Palviainen, Teemu; Tasanko, Elisa M; Peterson, Roseann E; Adkins, Daniel E; Shabalin, Andrey A; Adams, Mark J; Iveson, Matthew H; Campbell, Archie; Thomas, Laurent F; Winsvold, Bendik S; Drange, Ole Kristian; Børte, Sigrid; Ter Kuile, Abigail R; Naamanka, Joonas; Nguyen, Tan-Hoang; Meier, Sandra M; Corfield, Elizabeth C; Hannigan, Laurie; Levey, Daniel F; Czamara, Darina; Weber, Heike; Choi, Karmel W; Pistis, Giorgio; Couvy-Duchesne, Baptiste; Van der Auwera, Sandra; Teumer, Alexander; Karlsson, Robert; Garcia-Argibay, Miguel; Lee, Donghyung; Wang, Rujia; Bjerkeset, Ottar; Stordal, Eystein; Bäckman, Julia; Salum, Giovanni A; Zai, Clement C; Kennedy, James L; Zai, Gwyneth; Tiwari, Arun K; Heilmann-Heimbach, Stefanie; Schmidt, Börge; Kaprio, Jaakko; Kennedy, Martin M; Boden, Joseph; Havdahl, Alexandra; Middeldorp, Christel M; Lopes, Fabiana L; Akula, Nirmala; McMahon, Francis J; Binder, Elisabeth B; Fehm, Lydia; Ströhle, Andreas; Castelao, Enrique; Tiemeier, Henning; Stein, Dan J; Whiteman, David; Olsen, Catherine; Fuller, Zachary; Wang, Xin; Wray, Naomi R; Byrne, Enda M; Lewis, Glyn; Timpson, Nicholas J; Davis, Lea K; Hickie, Ian B; Gillespie, Nathan A; Milani, Lili; Schumacher, Johannes; Woldbye, David P; Forstner, Andreas J; Nöthen, Markus M; Hovatta, Iiris; Horwood, John; Copeland, William E; Maes, Hermine H; McIntosh, Andrew M; Andreassen, Ole A; Zwart, John-Anker; Mors, Ole; Børglum, Anders D; Mortensen, Preben B; Ask, Helga; Reichborn-Kjennerud, Ted; Najman, Jackob M; Stein, Murray B; Gelernter, Joel; Milaneschi, Yuri; Penninx, Brenda W; Boomsma, Dorret I; Maron, Eduard; Erhardt-Lehmann, Angelika; Rück, Christian; Kircher, Tilo T; Melzig, Christiane A; Alpers, Georg W; Arolt, Volker; Domschke, Katharina; Smoller, Jordan W; Preisig, Martin; Martin, Nicholas G; Lupton, Michelle K; Luik, Annemarie I; Reif, Andreas; Grabe, Hans J; Larsson, Henrik; Magnusson, Patrik K; Oldehinkel, Albertine J; Hartman, Catharina A; Breen, Gerome; Docherty, Anna R; Coon, Hilary; Conrad, Rupert; Lehto, Kelli; Deckert, Jürgen; Eley, Thalia C; Mattheisen, Manuel; Hettema, John M

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

Genomic Therapy Matching in Rare and Refractory Cancers

罕见和难治性癌症的基因组治疗匹配

Lin, Frank P; Thavaneswaran, Subotheni; Grady, John P; Napier, Christine E; Kansara, Maya; Sebastian, Lucille; Kee, Damien; Desai, Jayesh; Zaheed, Milita; Chinchen, Sarah; Oakes, Samantha R; Blackburn, James; Scott, Hamish S; Glover, Anthony; Fox, Stephen B; Goldstein, David; Leo, Paul; Amanuel, Benhur; Mersiades, Antony; Millward, Michael; Brown, Michael P; Charakidis, Michail; Pokorny, Adrian M J; Craft, Paul; Espinoza, David; Grimison, Peter; Harrup, Rosemary; Joshua, Anthony M; O'Byrne, Ken; Lee, Chee Khoon; Cowley, Mark J; Ballinger, Mandy L; Simes, John; Thomas, David M

Avoidable deaths through the primary prevention, early detection, and curative treatment of cancer worldwide: a population-based study

通过癌症的一级预防、早期发现和治愈性治疗,全球范围内可避免的死亡:一项基于人群的研究

Langselius, Oliver; Rumgay, Harriet; Vignat, Jérôme; Charvat, Hadrien; Rutherford, Mark J; Mafra, Allini; Morgan, Eileen; Li, Mengmeng; Sánchez-Romero, Luz M; Simms, Kate; Bray, Freddie; Soerjomataram, Isabelle