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

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

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。

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

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

Besa-Witto, Colomba; Ortega-Pinto, Ana; Véliz, Sebastián; Cornejo, Marco; Fuentes, Ignacia; Palisson, Francis; Krämer, Susanne

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

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

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

Fuentes, Ignacia; Yubero, María Joao; Morandé, Pilar; Varela, Carmen; Oróstica, Karen; Acevedo, Francisco; Rebolledo-Jaramillo, Boris; Arancibia, Esteban; Porte, Lorena; Palisson, Francis

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。

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

Diagnosis and management of pemphigus: Recommendations of an international panel of experts

天疱疮的诊断和治疗:国际专家组的建议

Murrell, Dedee F; Peña, Sandra; Joly, Pascal; Marinovic, Branka; Hashimoto, Takashi; Diaz, Luis A; Sinha, Animesh A; Payne, Aimee S; Daneshpazhooh, Maryam; Eming, Rüdiger; Jonkman, Marcel F; Mimouni, Daniel; Borradori, Luca; Kim, Soo-Chan; Yamagami, Jun; Lehman, Julia S; Saleh, Marwah Adly; Culton, Donna A; Czernik, Annette; Zone, John J; Fivenson, David; Ujiie, Hideyuki; Wozniak, Katarzyna; Akman-Karakaş, Ayşe; Bernard, Philippe; Korman, Neil J; Caux, Frédéric; Drenovska, Kossara; Prost-Squarcioni, Catherine; Vassileva, Snejina; Feldman, Ron J; Cardones, Adela Rambi; Bauer, Johann; Ioannides, Dimitrios; Jedlickova, Hana; Palisson, Francis; Patsatsi, Aikaterini; Uzun, Soner; Yayli, Savas; Zillikens, Detlef; Amagai, Masayuki; Hertl, Michael; Schmidt, Enno; Aoki, Valeria; Grando, Sergei A; Shimizu, Hiroshi; Baum, Sharon; Cianchini, Guiseppe; Feliciani, Claudio; Iranzo, Pilar; Mascaró, Jose M Jr; Kowalewski, Cezary; Hall, Russell; Groves, Richard; Harman, Karen E; Marinkovich, M Peter; Maverakis, Emanual; Werth, Victoria P

Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic-Consensus: Recommendations by an international panel of experts

COVID-19 大流行期间大疱性表皮松解症的多学科治疗——共识:国际专家组的建议

Murrell, Dedee F; Lucky, Anne W; Salas-Alanis, Julio C; Woodley, David T; Palisson, Francis; Natsuga, Ken; Nikolic, Milos; Ramirez-Quizon, Mae; Paller, Amy S; Lara-Corrales, Irene; Barzegar, Mohammadreza Amir; Sprecher, Eli; Has, Cristina; Laimer, Martin; Bruckner, Anna L; Bilgic, Asli; Nanda, Arti; Purvis, Diana; Hovnanian, Alain; Murat-Sušić, Slobodna; Bauer, Johannes; Kern, Johannes S; Bodemer, Christine; Martin, Linda K; Mellerio, Jemima; Kowaleski, Cezary; Robertson, Susan J; Bruckner-Tuderman, Leena; Pope, Elena; Marinkovich, M Peter; Tang, Jean Y; Su, John; Uitto, Jouni; Eichenfield, Lawrence F; Teng, Joyce; Aan Koh, Mark Jean; Lee, Sang Eun; Khuu, Phuong; Rishel, Heather I; Sommerlund, Mette; Wiss, Karen; Hsu, Chao-Kai; Chiu, Tor Wo; Martinez, Anna E

Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis

家族性原发性皮肤淀粉样变性中发现新的IL31RA基因突变和祖先OSMR突变等位基因

Lin, Ming-Wei; Lee, Ding-Dar; Liu, Tze-Tze; Lin, Yong-Feng; Chen, Shang-Yi; Huang, Chih-Cheng; Weng, Hui-Ying; Liu, Yu-Fen; Tanaka, Akio; Arita, Ken; Lai-Cheong, Joey; Palisson, Francis; Chang, Yun-Ting; Wong, Chu-Kwan; Matsuura, Isao; McGrath, John A; Tsai, Shih-Feng