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

Combined crystallographic fragment screening and deep mutational scanning enable discovery of Zika virus NS2B-NS3 protease inhibitors

结合晶体学片段筛选和深度突变扫描,可以发现寨卡病毒NS2B-NS3蛋白酶抑制剂。

Ni, Xiaomin; Richardson, R Blake; Godoy, Andre Schutzer; Ferla, Matteo P; Kikawa, Caroline; Scheen, Jenke; Hannon, William W; Capkin, Eda; Lahav, Noa; Balcomb, Blake H; Marples, Peter G; Fairhead, Michael; Wang, SiYi; Williams, Eleanor P; Tomlinson, Charles W E; Aschenbrenner, Jasmin C; Lithgo, Ryan M; Winokan, Max; Giroud, Charline; Dolci, Isabela; Fernandes, Rafaela Sachetto; Oliva, Glaucius; Chandran, Anu V; Xavier, Mary-Ann; Walsh, Martin A; Thompson, Warren; Bloom, Jesse D; Kenton, Nathaniel T; Lee, Alpha A; von Delft, Annette; Barr, Haim; Kirkegaard, Karla; Koekemoer, Lizbé; Fearon, Daren; Evans, Matthew J; von Delft, Frank

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

ITPR3 中的显性负性变异会损害 T 细胞 Ca2+ 动力学,导致联合免疫缺陷

Blanco Elena, Camps Carme, Bahal Sameer, Kerai Mohit D, Ferla Matteo P, Rochussen Adam M, Handel Adam E, Golwala Zainab M, Spiridou Goncalves Helena, Kricke Susanne, Klein Fabian, Zhang Fang, Zinghirino Federica, Evans Grace, Keane Thomas M, Lizot Sabrina, Kusters Maaike A A, Iro Mildred A, Patel Sanjay V, Morris Emma C, Burns Siobhan O, Radcliffe Ruth, Vasudevan Pradeep, Price Arthur, Gillham Olivia, Valdebenito Gabriel E, Stewart Grant S, Worth Austen, Adams Stuart P, Duchen Michael, André Isabelle, Adams David J, Santili Giorgia, Gilmour Kimberly C, Holländer Georg A, Davies E Graham, Taylor Jenny C, Griffiths Gillian M, Thrasher Adrian J, Dhalla Fatima, Kreins Alexandra Y

Fragmenstein: predicting protein-ligand structures of compounds derived from known crystallographic fragment hits using a strict conserved-binding-based methodology

Fragmenstein:利用严格的基于保守结合的方法预测由已知晶体学片段序列衍生的化合物的蛋白质-配体结构

Ferla, Matteo P; Sánchez-García, Rubén; Skyner, Rachael E; Gahbauer, Stefan; Taylor, Jenny C; von Delft, Frank; Marsden, Brian D; Deane, Charlotte M

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

PRMT7双等位基因致病变异与一种可识别的综合征性神经发育障碍相关,其特征为身材矮小、肥胖以及颅面和手指异常。

Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K; Wigby, Kristen M; Baralle, Diana; Mehrjardi, Mohammad Y V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, François; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E; Ercan-Sencicek, A Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C; Redman, Melody; Stegmann, Alexander P A; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Müller, Amelie Johanna; Digilio, Maria C; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N; Kraus, Alison; Valenzuela, Irene; McLean, Scott D; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E; Torti, Erin; Haack, Tobias B; Prada, Carlos E; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza

Universal COVID-19 pre-procedural swabs in children in a developing country: A comparison of findings over two transmission waves

发展中国家儿童普遍接受术前新冠病毒拭子检测:两波疫情传播期间结果的比较

Marafi, Dana; Fatih, Jawid M; Kaiyrzhanov, Rauan; Ferla, Matteo P; Gijavanekar, Charul; Al-Maraghi, Aljazi; Liu, Ning; Sites, Emily; Alsaif, Hessa S; Al-Owain, Mohammad; Zakkariah, Mohamed; El-Anany, Ehab; Guliyeva, Ulviyya; Guliyeva, Sughra; Gaba, Colette; Haseeb, Ateeq; Alhashem, Amal M; Danish, Enam; Karageorgou, Vasiliki; Beetz, Christian; Subhi, Alaa A; Mullegama, Sureni V; Torti, Erin; Sebastin, Monisha; Breilyn, Margo Sheck; Duberstein, Susan; Abdel-Hamid, Mohamed S; Mitani, Tadahiro; Du, Haowei; Rosenfeld, Jill A; Jhangiani, Shalini N; Coban Akdemir, Zeynep; Gibbs, Richard A; Taylor, Jenny C; Fakhro, Khalid A; Hunter, Jill V; Pehlivan, Davut; Zaki, Maha S; Gleeson, Joseph G; Maroofian, Reza; Houlden, Henry; Posey, Jennifer E; Sutton, V Reid; Alkuraya, Fowzan S; Elsea, Sarah H; Lupski, James R; Tan, Chee Yang; Theseira, Amelia Marie; Ahmad Zubaidi, Syukri; Atiya, Nadia; Sanmugam, Anand; Singaravel, Srihari; Nah, Shireen Anne

Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation

Venus:阐明氨基酸变异对蛋白质功能的影响(超越结构不稳定性)

Ferla, Matteo P; Pagnamenta, Alistair T; Koukouflis, Leonidas; Taylor, Jenny C; Marsden, Brian D

Variable skeletal phenotypes associated with biallelic variants in PRKG2

PRKG2基因双等位基因变异与多种骨骼表型相关

Pagnamenta, Alistair T; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P; Toosi, Mehran B; Calder, Alistair D; Karimiani, Ehsan G; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

肌苷三磷酸焦磷酸酶(ITPase)缺乏症引起的发育性和癫痫性脑病的临床放射学特征、分子谱及预后因素鉴定

Scala, Marcello; Wortmann, Saskia B; Kaya, Namik; Stellingwerff, Menno D; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D; Skrypnyk, Cristina; Iwanicka-Pronicka, Katarzyna; Piekutowska-Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Parul; Jayakar, Anuj; Upadia, Jariya; Walano, Nicolette; Haack, Tobias B; Prokisch, Holger; Aldhalaan, Hesham; Karimiani, Ehsan G; Yildiz, Yilmaz; Ceylan, Ahmet C; Santiago-Sim, Teresa; Dameron, Amy; Yang, Hui; Toosi, Mehran B; Ashrafzadeh, Farah; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh S; Maqbool, Shazia; Farid, Aisha; Al-Muhaizea, Mohamed A; Alshwameen, Meznah O; Aldowsari, Lama; Alsagob, Maysoon; Alyousef, Ashwaq; AlMass, Rawan; AlHargan, Aljouhra; Alwadei, Ali H; AlRasheed, Maha M; Colak, Dilek; Alqudairy, Hanan; Khan, Sameena; Lines, Matthew A; García Cazorla, M Ángeles; Ribes, Antonia; Morava, Eva; Bibi, Farah; Haider, Shahzad; Ferla, Matteo P; Taylor, Jenny C; Alsaif, Hessa S; Firdous, Abdulwahab; Hashem, Mais; Shashkin, Chingiz; Koneev, Kairgali; Kaiyrzhanov, Rauan; Efthymiou, Stephanie; Genomics, Queen Square; Schmitt-Mechelke, Thomas; Ziegler, Andreas; Issa, Mahmoud Y; Elbendary, Hasnaa M; Striano, Pasquale; Alkuraya, Fowzan S; Zaki, Maha S; Gleeson, Joseph G; Barakat, Tahsin Stefan; Bierau, Jorgen; van der Knaap, Marjo S; Maroofian, Reza; Houlden, Henry

Pervasive cooperative mutational effects on multiple catalytic enzyme traits emerge via long-range conformational dynamics

长程构象动力学对多种催化酶特性产生普遍的协同突变效应

Acevedo-Rocha, Carlos G; Li, Aitao; D'Amore, Lorenzo; Hoebenreich, Sabrina; Sanchis, Joaquin; Lubrano, Paul; Ferla, Matteo P; Garcia-Borràs, Marc; Osuna, Sílvia; Reetz, Manfred T

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

双等位基因PI4KA变异会导致神经系统疾病、肠道疾病和免疫系统疾病。

Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L