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

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant

由COL4A3剪接变异引起的缓慢进展型常染色体显性遗传Alport综合征

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01706-8
Daga, Sergio; Loberti, Lorenzo; Rollo, Giulia; Adamo, Loredaria; Colavecchio, Olga Lorenza; Brunelli, Giulia; Zguro, Kristina; Tripodi, Sergio Antonio; Guarnieri, Andrea; Garosi, Guido; D'Aurizio, Romina; Ariani, Francesca; Tita, Rossella; Renieri, Alessandra; Pinto, Anna Maria
COL
发表日期：2025
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Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant

更正：由 COL4A3 剪接变异引起的缓慢进展性常染色体显性遗传 Alport 综合征

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01736-2
Daga, Sergio; Loberti, Lorenzo; Rollo, Giulia; Adamo, Loredaria; Colavecchio, Olga Lorenza; Brunelli, Giulia; Zguro, Kristina; Tripodi, Sergio Antonio; Guarnieri, Andrea; Garosi, Guido; D'Aurizio, Romina; Ariani, Francesca; Tita, Rossella; Renieri, Alessandra; Pinto, Anna Maria
COL
发表日期：2025
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MET is a new confirmed gene responsible for familial distal arthrogryposis

MET 是新近确认的导致家族性远端关节挛缩症的基因。

期刊:EMBO Molecular Medicine
影响因子:8.3
doi:10.1038/s44321-024-00044-y
Maffeo, Debora; Carrer, Anna; Rina, Angela; Adamo, Loredaria; Lo Rizzo, Caterina; Bruttini, Mirella; Renieri, Alessandra; Mari, Francesca
MET
发表日期：2024
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Carbonic Anhydrase XII Expression Is Modulated during Epithelial Mesenchymal Transition and Regulated through Protein Kinase C Signaling

碳酸酐酶 XII 表达在上皮间质转化过程中受到调节并通过蛋白激酶 C 信号传导进行调节

期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms21030715
Daniele Vergara, Sara Ravaioli, Eugenio Fonzi, Loredaria Adamo, Marina Damato, Sara Bravaccini, Francesca Pirini, Antonio Gaballo, Raffaela Barbano, Barbara Pasculli, Julien Franck, Isabelle Fournier, Michel Salzet, Michele Maffia
信号转导
ELISA
ICC
IHC
发表日期：2020
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