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

Novel Sulfonium Reagents for the Modular Synthesis of Spiro[2.3]Hexanes and Heteroatom-Containing Analogues: Synthesis, Application, and Evaluation as Bioisosteres

用于模块化合成螺[2.3]己烷及其含杂原子类似物的新型锍试剂:合成、应用及作为生物等排体的评价

Natho, Philipp; Vicenti, Annarita; Mastrolorito, Fabrizio; De Franco, Francesca; Walsh-Benn, Lee; Colella, Marco; Mesto, Ernesto; Schingaro, Emanuela; Nicolotti, Orazio; Gioiello, Antimo; Luisi, Renzo

Loss of function variants in the primate-specific gene ZNF808 cause neonatal, transient and adult-onset diabetes

灵长类特异性基因 ZNF808 的功能缺失变异会导致新生儿糖尿病、暂时性糖尿病和成人发病型糖尿病。

Russ-Silsby, James; Colclough, Kevin; Johnson, Matthew B; Wakeling, Matthew N; Owens, Nick D L; Amaratunga, Shenali A; Flanagan, Sarah E; Patel, Kashyap A; Hattersley, Andrew T; De Franco, Elisa

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY

对 MODY 基因中功能缺失变异的系统分析表明,这些变异具有基因特异性效应,并扩展了导致 MODY 的 INS 变异谱。

Laver, Thomas W; Sriram, Aparajita; Wakeling, Matthew N; Şiklar, Zeynep; Kobaisi, Farah; Kalyon, Oguzhan; Hattersley, Andrew T; Weedon, Michael N; Flanagan, Sarah E; De Franco, Elisa; Colclough, Kevin; Patel, Kashyap A

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes

非蛋白质编码的次要剪接体组分 RNU6ATAC 和 RNU4ATAC 的双等位基因变异会导致综合征型单基因自身免疫性糖尿病

Johnson, Matthew B; Russ-Silsby, James; Blair, Paul A; Govier, Molly; Bonfield, Georgia; Domingo-Vila, Clara; Wakeling, Matthew N; Oram, Richard A; Flanagan, Sarah E; Tree, Timothy I M; Patel, Kashyap A; Hattersley, Andrew T; De Franco, Elisa

Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes

IL2RA基因的双等位致病变异导致新生儿期发病的单基因自身免疫性糖尿病

Bonfield, Georgia; Russ-Silsby, James; Ramchand, Suraj; Luckett, Amber M; Wakeling, Matthew N; Kulkarni, Abhishek; Nagesh, V Sri; Deeb, Asma; Ravikumar, K G; Nguyen, Phuong T K; Hattersley, Andrew T; Oram, Richard A; Flanagan, Sarah E; De Franco, Elisa; Johnson, Matthew B

HDR Brachytherapy in the Treatment of Skin Kaposi Sarcoma: A Mono-Institutional Series

高剂量率近距离放射治疗在皮肤卡波西肉瘤治疗中的应用:单中心系列研究

Santo, Bianca; Ciurlia, Elisa; Barba, Maria Cristina; Cavalera, Elisa; Coppola, Rosa; De Franco, Paola; De Matteis, Sara; Di Paola, Giuseppe; Leone, Angela; Papaleo, Antonella; Russo, Donatella; Rubini, Dino; Rubini, Giuseppe; Sardaro, Angela

Targeting RAD51-BRCA2 Interaction to Enhance Synthetic Lethality with Olaparib in Pancreatic Cancer: Development of a Novel Phenyl Furan-Quinoline-Carboxylic Acid Series

靶向 RAD51-BRCA2 相互作用以增强奥拉帕尼在胰腺癌中的合成致死性:新型苯基呋喃-喹啉-羧酸系列化合物的开发

Ferrandi, Giovanni; Bagnolini, Greta; Poppi, Laura; Masi, Mirco; Previtali, Viola; Andonaia, Angela; Varignani, Giulia; Veronesi, Marina; De Franco, Francesca; Falchi, Federico; Di Stefano, Giuseppina; Girotto, Stefania; Roberti, Marinella; Cavalli, Andrea

Did Nirsevimab Shift Pediatric Hospitalizations Due to Lower Respiratory Tract Infections? A Nationwide Italian Study (2024-2025)

尼塞维单抗是否改变了因下呼吸道感染而住院的儿童人数?一项意大利全国性研究(2024-2025)

Manzoni, Paolo; Riccò, Matteo; Tzialla, Chryssoula; Barera, Graziano; Barba, Paolo Del; De Franco, Simona; Pellegrini, Guido; Crapanzano, Enrico; Nicolini, Giangiacomo; Alba, Andrea; Fiocchi, Stefano; Vivalda, Mauro; Natta, Giulia; Casati, Alessandra; Manzionna, Mariano; Rugolotto, Simone; Saggioro, Laura; Pesce, Simona; Scavone, Maria; Distilo, Antonietta; Roseto, Vincenza; Di Toro, Antonino; Pierri, Luca; Scarpelli, Gianfranco; Bonanno, Elvira; Decembrino, Lidia; Felici, Enrico; Selvatico, Camilla; Saracco, Valentina; Morrone, Francesco; Costantino, Claudio; Nobili, Cecilia; Giuffrè, Mario

ReNU Syndrome due to a de novo RNU4-2 Variant as a Novel Genetic Cause of Proteinuria

由新发 RNU4-2 变异引起的 ReNU 综合征是蛋白尿的一种新型遗传病因

Morello, William; Armaroli, Greta; Milani, Donatella; Bellotti, Anita Sofia; Castelli, Paola; Cicchetti, Elena; Del Gobbo, Alessandro; De Franco, Alessandra; Montini, Giovanni

Structure-Based Discovery of Obeticholic Acid Derivatives as Novel Farnesoid X Receptor Partial Agonists with Improved Selectivity and Reduced Off-Target Effects

基于结构的奥贝胆酸衍生物作为新型法尼醇X受体部分激动剂的发现,具有更高的选择性和更低的脱靶效应

Passeri, Daniela; Cerra, Bruno; Carotti, Andrea; Greco, Francesco; Piermarini, Sara; Colliva, Carolina; Liscio, Paride; De Franco, Francesca; Adorini, Luciano; Erickson, Mary Ruth; Pellicciari, Roberto; Gioiello, Antimo