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

Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models

囊性纤维化个性化医疗：肠道类器官和细胞模型中八种罕见CFTR变异体的表征

期刊:Molecular Diagnosis & Therapy
影响因子:4.4
doi:10.1007/s40291-025-00806-5
Railean, Violeta; Rodrigues, Cláudia S; Pankonien, Ines; Ramalho, Sofia S; Silva, Iris A L; Doušová, Tereza; Castanhinha, Susana; Azevedo, Pilar; Roda, Juliana; Farinha, Carlos M; Amaral, Margarida D
3D/类器官
CFTR
细胞生物学
发表日期：2026
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CFTR ion transport deficiency primes the epithelium for partial epithelial-mesenchymal transition in cystic fibrosis.

囊性纤维化中 CFTR 离子转运缺陷使上皮细胞更容易发生部分上皮-间质转化

期刊:Frontiers in Pharmacology
影响因子:4.8
doi:10.3389/fphar.2025.1655479
Rodrigues Cláudia S, Canto Matilde, Torres Raquel, Railean Violeta, Ramalho Sofia S, Farinha Carlos M, Pankonien Ines, Amaral Margarida D
细胞生物学
发表日期：2025
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Global functional genomics reveals GRK5 as a cystic fibrosis therapeutic target synergistic with current modulators.

全球功能基因组学揭示 GRK5 是囊性纤维化治疗靶点，可与现有调节剂产生协同作用

期刊:iScience
影响因子:4.1
doi:10.1016/j.isci.2025.111942
Botelho Hugo M, Lopes-Pacheco Miquéias, Pinto Madalena C, Railean Violeta, Pankonien Ines, Caleiro Mariana F, Clarke Luka A, Cachatra Vasco, Neumann Beate, Tischer Christian, Moiteiro Cristina, Ousingsawat Jiraporn, Kunzelmann Karl, Pepperkok Rainer, Amaral Margarida D
其它
发表日期：2025
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Comparison of the Effect of CFTR Modulators elexacaftor/tezacaftor/ivacaftor and lumacaftor/ivacaftor via Serum Human Epididymis Protein 4 Concentration in p.Phe508del-CFTR Homozygous Cystic Fibrosis Patients

通过血清人附睾蛋白4浓度比较CFTR调节剂elexacaftor/tezacaftor/ivacaftor对p.Phe508del-CFTR纯合子囊性纤维化患者的影响

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm14176188
Pócsi, Marianna; Fila, Libor; Péterfia, Csaba; Halász, Adrien; Szanto, Tibor G; Mészáros, Beáta; Major, Judit; Laki, István; Szabó, Hajnalka; Panyi, György; Balogh, István; Amaral, Margarida D; Macek, Milan Jr; Nagy, Béla Jr
CFTR
Human
发表日期：2025
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What Can RNA-Based Therapy Do for Monogenic Diseases?

基于RNA的疗法能为单基因疾病带来哪些益处？

期刊:Pharmaceutics
影响因子:5.5
doi:10.3390/pharmaceutics15010260
Clarke, Luka A; Amaral, Margarida D
发表日期：2023
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Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators

个性化医疗：目前可用的CFTR调节剂可以恢复CFTR变异体p.Arg334Trp的功能

期刊:Frontiers in Molecular Biosciences
影响因子:4
doi:10.3389/fmolb.2023.1155705
Railean, Violeta; Rodrigues, Cláudia S; Ramalho, Sofia S; Silva, Iris A L; Bartosch, Jan; Farinha, Carlos M; Pankonien, Ines; Amaral, Margarida D
CFTR
发表日期：2023
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Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

研究化合物 MCG1516A 可挽救突变 CFTR 转运缺陷

期刊:Cells
影响因子:5.2
doi:10.3390/cells11010136
Lopes-Pacheco Miquéias, Bacalhau Mafalda, Ramalho Sofia S, Silva Iris A L, Ferreira Filipa C, Carlile Graeme W, Thomas David Y, Farinha Carlos M, Hanrahan John W, Amaral Margarida D
其它
发表日期：2022
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CFTR, Cell Junctions and the Cytoskeleton

CFTR、细胞连接和细胞骨架

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms23052688
Pankonien, Ines; Quaresma, Margarida C; Rodrigues, Cláudia S; Amaral, Margarida D
CFTR
细胞生物学
发表日期：2022
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Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies

葡萄牙中部患有囊性纤维化的儿童群体：新疗法的候选者

期刊:Jornal De Pediatria
影响因子:2.5
doi:10.1016/j.jped.2021.05.010
Roda, Juliana; Teixeira, Teresa; Ai Silva, Iris; Silva, Teresa Reis; Ferreira, Ricardo; Amaral, Margarida D; Oliveira, Guiomar
发表日期：2022
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Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies

罕见的CFTR基因突变导致蛋白质转运异常，涉及不同的细胞滞留机制，需要不同的拯救策略。

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms23010024
Ramalho, Sofia S; Silva, Iris A L; Amaral, Margarida D; Farinha, Carlos M
CFTR
细胞生物学
发表日期：2021
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