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

Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset

LRRK2 p.A419V 与东亚人群帕金森病的相关性及发病年龄分析

Lim, Kai Shi; Periñan, Maria Teresa; Chew, Elaine Guo Yan; Lee, Paul Suhwan; Akçimen, Fulya; Lim, Jia Lun; Koretsky, Mathew J; Funayama, Manabu; Yoshino, Hiroyo; Hattori, Nobutaka; Kaiyrzhanov, Rauan; Houlden, Henry; Isayan, Mariam; Tay, Yi Wen; Toh, Tzi Shin; Lit, Lei-Cheng; Khairul Anuar, Anis Nadhirah; Ding, Hans Xing; Screven, Laurel; Ibrahim, Norlinah Mohamed; Lin, Chin-Hsien; Kim, Han-Joon; Lee, Jee-Young; Chung, Sun Ju; Foo, Jia Nee; Tan, Eng-King; Lim, Shen-Yang; Tan, Ai Huey; Bandres-Ciga, Sara; Ahmad-Annuar, Azlina

Socio-demographic, behavioral, and biological risk factors of hypertension in Kazakhstan: results of a national study

哈萨克斯坦高血压的社会人口学、行为和生物学危险因素:一项全国性研究的结果

Zhukov, Yevgeniy; Nikatov, Kuanysh; Dyussembekov, Ermek; Kastey, Rauan; Yerniyazov, Niyazbek; Korabayev, Mukhtar; Menlayakova, Darina; Muminov, Talgat; Tanabayeva, Shynar; Fakhradiyev, Ildar; Shoranov, Marat

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

双等位基因 KICS2 突变会损害 KICSTOR 复合物介导的 mTORC1 调节,导致智力障碍和癫痫

Buchert Rebecca, Burkhalter Martin D, Huridou Chrisovalantou, Sofan Linda, Roser Timo, Cremer Kirsten, Alvi Javeria Raza, Efthymiou Stephanie, Froukh Tawfiq, Gulieva Sughra, Guliyeva Ulviyya, Hamdallah Moath, Holder-Espinasse Muriel, Kaiyrzhanov Rauan, Klingler Doreen, Koko Mahmoud, Matthies Lars, Park Joohyun, Sturm Marc, Velic Ana, Spranger Stephanie, Sultan Tipu, Engels Hartmut, Lerche Holger, Houlden Henry, Pagnamenta Alistair T, Borggraefe Ingo, Weber Yvonne, Bonnen Penelope E, Maroofian Reza, Riess Olaf, Weber Jonasz J, Philipp Melanie, Haack Tobias B

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

CSNK1E基因中CGG重复序列扩增与进行性肌阵挛性癫痫相关,且外显率不完全

Akçimen, Fulya; Alvarez Jerez, Pilar; Guliyeva, Ulviyya; Lee, Jasmine; Malik, Laksh; Baker, Breeana; Salayev, Kamran; Guliyeva, Sughra; Billingsley, Kimberley J; Houlden, Henry; Singleton, Andrew B; Blauwendraat, Cornelis; Bandres-Ciga, Sara; Kaiyrzhanov, Rauan

The impact of multistrain probiotics (Leuconostoc mesenteroides, Lactococcus lactis) on African catfish (Clarias gariepinus) gut microbiota, immunological response, and growth performance

多菌株益生菌(肠膜明串珠菌、乳酸乳球菌)对非洲鲶(Clarias gariepinus)肠道菌群、免疫反应和生长性能的影响

Paritova, Assel; Ussenbayev, Altay; Abdessan, Rauan; Assauova, Zhenisgul Seitkaliyevna; Kuzembekova, Gulnur Berikovna; Omarbekova, Gulzhan; Karabassova, Aiken Sansyzbaevna; Kassen, Aigul Jenisbekkyzy; Kenzhebekova, Zhuldyzay; Abulgazimova, Gulmira Alibayevna; Saingaliyeva, Aruzhan

Comparative Phytochemical Profiling of Essential Oils from Selected Abies Species and Analysis of Their Antifungal and Antiradical Activity

对几种冷杉属植物精油进行比较植物化学成分分析及其抗真菌和抗自由基活性研究

Ayupova, Rizvangul; Svajdlenka, Emil; Zemlicka, Milan; Ibadullayeva, Galiya; Raganina, Karlygash; Alimova, Urziya; Nokerbek, Shamshabanu; Botabayeva, Rauan; Kiyekbayeva, Lashyn; Mombekov, Serzhan

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

ZNF142基因的双等位基因功能缺失变异与影响有限数量基因组位点的强效DNA甲基化特征相关。

Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tümer, Zeynep; Tartaglia, Marco