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

A comprehensive framework for the interpretation of TTN missense variants

用于解释 TTN 错义变异的综合框架

Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Luo, Sushan; Merlini, Luciano; Nguyen, Cam-Tu-Emilie; Tasca, Giorgio; Reeves, Tara; Mörner, Stellan; Danielsson, Olof; Udd, Bjarne; Gautel, Mathias; Savarese, Marco

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation

俄罗斯联邦LAMA2基因致病变异谱

Chausova, Polina; Cherevatova, Tatiana; Dadali, Elena; Murtazina, Aysylu; Bulakh, Maria; Kurbatov, Sergei; Anisimova, Inga; Kanivets, Ilya; Udalova, Vasilisa; Rudenskaya, Galina; Demina, Nina; Sharkova, Inna; Monakhova, Anastasia; Tsygankova, Polina; Markova, Tatiana; Ryzhkova, Oksana; Shatohina, Olga; Galkina, Varvara; Borovikov, Artem; Mishina, Irina; Shchagina, Olga; Chukhrova, Alena; Polyakov, Aleksander

Cytotoxic Curvalarol C and Other Compounds from Marine Fungus Asteromyces cruciatus KMM 4696

海洋真菌 Asteromyces cruciatus KMM 4696 中的细胞毒性 Curvalarol C 和其他化合物

Nesterenko, Liliana E; Yurchenko, Ekaterina A; Zhuravleva, Olesya I; Oleinikova, Galina K; Kirichuk, Natalya N; Popov, Roman S; Chausova, Viktoria E; Drozdov, Konstantin A; Chingizova, Ekaterina A; Isaeva, Marina P; Yurchenko, Anton N

Differences in Metabolite Profiles and Bioactivities of Intra-Strain Variants of Marine Fungus Penicillium antarcticum KMM 4668

南极青霉KMM 4668菌株内变异株代谢物谱和生物活性的差异

Borkunov, Gleb V; Kirichuk, Natalya N; Chausova, Viktoria E; Popov, Roman S; Zhuravleva, Olesya I; Chingizova, Ekaterina A; Yurchenko, Ekaterina A; Isaeva, Marina P; Yurchenko, Anton N

Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation

俄罗斯联邦新生儿筛查项目实施后,5q脊髓性肌萎缩症患者的基因型结构发生改变

Akhkiamova, Maria A; Marakhonov, Andrey V; Zabnenkova, Victoria V; Mikhalchuk, Kristina A; Voronin, Sergei V; Kutsev, Sergey I; Musatova, Victoria V; Kekeeva, Tatyana N; Ryadninskaya, Nina V; Chukhrova, Alena L; Braslavskaya, Svetlana I; Chausova, Polina A; Beskorovainaya, Tatyana S; Polyakov, Aleksander V; Savostyanov, Kirill V; Zhanin, Ilya S; Bilalov, Fanil S; Koroteev, Alexander L; Trofimov, Dmitry Y; Bairova, Tatyana A; Seitova, Gulnara N; Mordanov, Sergei V; Matulevich, Svetlana A; Nikolaeva, Elena B; Shchagina, Olga A

New Zosteropenillines and Pallidopenillines from the Seagrass-Derived Fungus Penicillium yezoense KMM 4679

从海草衍生真菌条斑青霉 KMM 4679 中提取的新条斑青霉碱和苍白青霉碱

Elena V Leshchenko, Ekaterina A Chingizova, Alexandr S Antonov, Nadezhda P Shlyk, Gleb V Borkunov, Dmitrii V Berdyshev, Viktoria E Chausova, Natalya N Kirichuk, Yuliya V Khudyakova, Artur R Chingizov, Anatoly I Kalinovsky, Roman S Popov, Natalya Yu Kim, Ksenia A Chadova, Ekaterina A Yurchenko, Marin

Structure of Genes Encoding Oxidosqualene Cyclases-Key Enzymes of Triterpenoid Biosynthesis from Sea Cucumber Eupentacta fraudatrix.

海参 Eupentacta fraudatrix 中编码氧化角鲨烯环化酶(三萜类化合物生物合成的关键酶)的基因结构

Baldaev Sergey N, Chausova Viktoria E, Isaeva Ksenia V, Boyko Alexey V, Stonik Valentin A, Isaeva Marina P

New piperazine derivatives helvamides B-C from the marine-derived fungus Penicillium velutinum ZK-14 uncovered by OSMAC (One Strain Many Compounds) strategy

利用 OSMAC(一株多种化合物)策略从海洋真菌 Penicillium velutinum ZK-14 中发现新的哌嗪衍生物 helvamides BC

Gleb V Borkunov #, Elena V Leshchenko #, Dmitrii V Berdyshev, Roman S Popov, Ekaterina A Chingizova, Nadezhda P Shlyk, Andrey V Gerasimenko, Natalya N Kirichuk, Yuliya V Khudyakova, Viktoria E Chausova, Alexandr S Antonov, Anatoly I Kalinovsky, Artur R Chingizov, Ekaterina A Yurchenko, Marina P Isae

Metabolite profiles of Paragliomastix luzulae (formerly named as Acremonium striatisporum) KMM 4401 and its co-cultures with Penicillium hispanicum KMM 4689

Paragliomastix luzulae(以前称为 Acremonium striatisporum)KMM 4401 及其与 Penicillium hispanicum KMM 4689 共培养物的代谢物概况

Sofya S Starnovskaya, Liliana E Nesterenko, Roman S Popov, Natalya N Kirichuk, Viktoria E Chausova, Ekaterina A Chingizova, Artur R Chingizov, Marina P Isaeva, Ekaterina A Yurchenko, Anton N Yurchenko

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

俄罗斯患者GNE基因中常见的A57F变异体具有芬兰-乌戈尔语系马里血统。

Subbotin, Dmitrii; Ionova, Sofya; Marakhonov, Andrey; Saifullina, Elena; Borovikov, Artem; Akhmadeeva, Leila; Chausova, Polina; Ryzhkova, Oksana; Zinchenko, Rena; Kutsev, Sergey; Murtazina, Aysylu