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

Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.

COL7A1 启动子中 Sp1 转录因子结合受损的新变异会导致轻度隐性营养不良性大疱性表皮松解症

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01717-5
Pironon Nathalie, Gasparyan Artyom, Yubero María Joao, Duchatelet Sabine, Hovhannesyan Kristina, Leclerc-Mercier Stephanie, Kostandyan Natella, Palisson Francis, Sarkisian Tamara, Titeux Matthias, Fuentes Ignacia, Hovnanian Alain
SP1
发表日期：2025
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Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation

携带独特的 c.6527insC 突变的个体患有罕见的皮肤病——隐性营养不良性大疱性表皮松解症，研究发现其起源于塞法迪犹太人。

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2025-110967
Warshauer, Emily Mira; Maier, Paul A; Runfeldt, Goran; Fuentes, Ignacia; Escamez, Maria José; Valinotto, Laura; Natale, Monica; Manzur, Graciela; Illera, Nuria; Garcia, Marta; Del Rio, Marcela; Mencia, Angeles; Holguin, Almudena; Larcher, Fernando; Hellenthal, Garrett; Brown, Adam R; Consuegra, Liliana; Rivera, Carolina; Nogueiro, Inês; Tang, Jean; Oro, Anthony; Marinkovich, Peter; Palisson, Francis; Titeux, Matthias; Hovnanian, Alain A; Sprecher, Eli; Skorecki, Karl; Norris, David; Bruckner, Anna; Kogut, Igor; Bilousova, Ganna; Roop, Dennis
发表日期：2025
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Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa

交界性大疱性表皮松解症引起的牙釉质发育不全中牙冠吸收的发生率

期刊:Oral Diseases
影响因子:2.9
doi:10.1111/odi.15250
Besa-Witto, Colomba; Ortega-Pinto, Ana; Véliz, Sebastián; Cornejo, Marco; Fuentes, Ignacia; Palisson, Francis; Krämer, Susanne
发育与干细胞
发表日期：2025
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Orofacial Anomalies in Kindler Epidermolysis Bullosa

金德勒大疱性表皮松解症的口面部异常

期刊:Jama Dermatology
影响因子:11
doi:10.1001/jamadermatol.2024.0065
Krämer, Susanne; Hillebrecht, Anna Lena; Wang, Yao; Badea, Mihail-Alexandru; Barrios, Jose Ignacio; Danescu, Sorina; Fuentes, Ignacia; Kartal, Demet; Klausegger, Alfred; Ponce de León, Enrique; Schilke, Reinhard; Yordanova, Ivelina; Bloch-Zupan, Agnes; Has, Cristina
发表日期：2024
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Pregabalin for Neuropathic Pain and Itch in Recessive Dystrophic Epidermolysis Bullosa: A Randomized Crossover Trial

普瑞巴林治疗隐性营养不良型大疱性表皮松解症的神经性疼痛和瘙痒：一项随机交叉试验

期刊:Jama Dermatology
影响因子:11
doi:10.1001/jamadermatol.2024.3767
Calvo, Margarita; Tejos-Bravo, Macarena; Passi-Solar, Alvaro; Espinoza, Fernanda; Fuentes, Ignacia; Lara-Corrales, Irene; Pope, Elena
发表日期：2024
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Maintenance of chronicity signatures in fibroblasts isolated from recessive dystrophic epidermolysis bullosa chronic wound dressings under culture conditions

在培养条件下，从隐性营养不良型大疱性表皮松解症慢性伤口敷料中分离的成纤维细胞中慢性特征的维持

期刊:Biological Research
影响因子:4.6
doi:10.1186/s40659-023-00437-2
De Gregorio, Cristian; Catalán, Evelyng; Garrido, Gabriel; Morandé, Pilar; Bennett, Jimena Castillo; Muñoz, Catalina; Cofré, Glenda; Huang, Ya-Lin; Cuadra, Bárbara; Murgas, Paola; Calvo, Margarita; Altermatt, Fernando; Yubero, María Joao; Palisson, Francis; South, Andrew P; Ezquer, Marcelo; Fuentes, Ignacia
成纤维细胞
细胞生物学
发表日期：2023
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Longitudinal study of wound healing status and bacterial colonisation of Staphylococcus aureus and Corynebacterium diphtheriae in epidermolysis bullosa patients

对大疱性表皮松解症患者伤口愈合状况及金黄色葡萄球菌和白喉棒状杆菌定植情况的纵向研究

期刊:International Wound Journal
影响因子:2.5
doi:10.1111/iwj.13922
Fuentes, Ignacia; Yubero, María Joao; Morandé, Pilar; Varela, Carmen; Oróstica, Karen; Acevedo, Francisco; Rebolledo-Jaramillo, Boris; Arancibia, Esteban; Porte, Lorena; Palisson, Francis
微生物学
发表日期：2023
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Viroscope: Plant viral diagnosis from high-throughput sequencing data using biologically-informed genome assembly coverage

Viroscope：利用生物学信息指导的基因组组装覆盖率，从高通量测序数据中诊断植物病毒

期刊:Frontiers in Microbiology
影响因子:4.5
doi:10.3389/fmicb.2022.967021
Valenzuela, Sandro L; Norambuena, Tomás; Morgante, Verónica; García, Francisca; Jiménez, Juan C; Núñez, Carlos; Fuentes, Ignacia; Pollak, Bernardo
微生物学
发表日期：2022
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Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

西班牙裔人群中隐性营养不良型大疱性表皮松解症突变的祖先模式表明其具有塞法迪犹太人血统。

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62456
Warshauer, Emily Mira; Brown, Adam; Fuentes, Ignacia; Shortt, Jonathan; Gignoux, Chris; Montinaro, Francesco; Metspalu, Mait; Youssefian, Leila; Vahidnezhad, Hassan; Jacków, Joanna; Christiano, Angela M; Uitto, Jouni; Fajardo-Ramírez, Óscar R; Salas-Alanis, Julio C; McGrath, John A; Consuegra, Liliana; Rivera, Carolina; Maier, Paul A; Runfeldt, Goran; Behar, Doron M; Skorecki, Karl; Sprecher, Eli; Palisson, Francis; Norris, David A; Bruckner, Anna L; Kogut, Igor; Bilousova, Ganna; Roop, Dennis R
发表日期：2021
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