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A proposal for a new pathogenesis-guided classification for inherited epidermal differentiation disorders 一种基于发病机制指导的遗传性表皮分化障碍的新分类方案 Hernandez-Martin, Angela; Paller, Amy S.; Sprecher, Eli; Akiyama, Masashi; Granier Tournier, Celine; Aldwin-Easton, Mandy; Bodemer, Christine; Choate, Keith; Fischer, Judith; Gostynski, Antoni; Hovnanian, Alain; Ishida-Yamamoto, Akemi; O'Toole, Edel A.; Schmuth, Matthias; Schwartz, Janice; Tadini, Gianluca; Teng, Joyce; Mazereeuw-Hautier, Juliette 分享 收藏
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy 综合征性表皮分化障碍：基于病生理机制的新分类与治疗方向 Paller, Amy S.; Teng, Joyce; Mazereeuw-Hautier, Juliette; Hernandez-Martin, Angela; Granier Tournier, Celine; Hovnanian, Alain; Aldwin-Easton, Mandy; Tadini, Gianluca; Schwartz, Janice; Sprecher, Eli; Malovitski, Kiril; Ishida-Yamamoto, Akemi; Choate, Keith; Akiyama, Masashi; O'Toole, Edel A.; Fischer, Judith; Bodemer, Christine; Gostynski, Antoni; Schmuth, Matthias 分享 收藏
Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy 掌跖表皮分化障碍：一种新的基于发病机制的分类向疗法 Sprecher, Eli; Ishida-Yamamoto, Akemi; Schwartz, Janice; Akiyama, Masashi; Aldwin-Easton, Mandy; Choate, Keith; Fischer, Judith; Gostynski, Antoni; Tournier, Celine Granier; Hernandez-Martin, Angela; Hovnanian, Alain; Malovitski, Kiril; Mazereeuw-Hautier, Juliette; Paller, Amy S.; Schmuth, Matthias; Tadini, Gianluca; Teng, Joyce; Bodemer, Christine; O'Toole, Edel A. 分享 收藏
Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy 非综合征性表皮分化障碍：基于与疾病相关基因的新分类和命名法，以实现靶向治疗 Akiyama, Masashi; Choate, Keith; Hernandez-Martin, Angela; Aldwin-Easton, Mandy; Bodemer, Christine; Gostynski, Antoni; Hovnanian, Alain; Ishida-Yamamoto, Akemi; Malovitski, Kiril; O'Toole, Edel A.; Paller, Amy S.; Schmuth, Matthias; Schwartz, Janice; Sprecher, Eli; Teng, Joyce M. C.; Granier Tournier, Celine; Mazereeuw-Hautier, Juliette; Tadini, Gianluca; Fischer, Judith 分享 收藏
Clinical characteristics and genetic analysis of 14 patients affected with acne (A) fulminans and hidradenitis suppurativa (SH): ASH syndrome, a new phenotypic entity Miskinyte, Snaigune; Duchatelet, Sabine; Delage, Maia; Ungeheuer, Marie-Noelle; Auffret, Nicole; Binois, Raphae; Guillem, Philippe; Join-Lambert, Olivier; Nassif, Aude; Hovnanian, Alain 分享 收藏
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Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa Pironon, Nathalie; Gasparyan, Artyom; Yubero, Maria Joao; Duchatelet, Sabine; Hovhannesyan, Kristina; Leclerc-Mercier, Stephanie; Kostandyan, Natella; Palisson, Francis; Sarkisian, Tamara; Titeux, Matthias; Fuentes, Ignacia; Hovnanian, Alain 分享 收藏
Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus Study 制定Netherton综合征的核心结果集: 一项国际多利益相关方e-delphi共识研究 Nouwen, Anouk E. M.; Ragamin, Aviel; Knol, Maria J.; Ott, Hagen; Weibel, Lisa; Has, Cristina; Hovnanian, Alain; Paller, Amy S.; Bodemer, Christine; Dalm, Virgil A. S. H.; Pasmans, Suzanne G. M. A.; Schappin, Renske; Netherton Syndrome Core Outcomes Res Evaluation NSCORE Stakeholders 分享 收藏
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis (vol 221, e20232387, 2024) Horesh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan 分享 收藏
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis 具有JAK1变体的个体受包括自身免疫、特应性、结肠炎和皮炎在内的综合征特征的影响 Horesh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan 分享 收藏
Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches O'Toole, Edel A.; Kelsell, David P.; Caterina, Michael J.; de Brito, Marianne; Hansen, David; Hickerson, Robyn P.; Hovnanian, Alain; Kaspar, Roger; Lane, E. Birgitte; Paller, Amy S.; Schwartz, Janice; Shroot, Braham; Teng, Joyce; Titeux, Matthias; Coulombe, Pierre A.; Sprecher, Eli 分享 收藏
Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways Petrova, Evgeniya; Lopez-Gay, Jesus Maria; Fahrner, Matthias; Leturcq, Florent; de Villartay, Jean-Pierre; Barbieux, Claire; Gonschorek, Patrick; Tsoi, Lam C.; Gudjonsson, Johann E.; Schilling, Oliver; Hovnanian, Alain 分享 收藏
Large-scale functional inference for skin- expressing lncRNAs using expression and sequence information Patrick, Matthew T.; Sreeskandarajan, Sutharzan; Shefler, Alanna; Wasikowski, Rachael; Sarkar, Mrinal K.; Chen, Jiahan; Qin, Tingting; Billi, Allison C.; Kahlenberg, J. Michelle; Prens, Errol; Hovnanian, Alain; Weidinger, Stephan; Elder, James T.; Kuo, Chao -Chung; Gudjonsson, Johann E.; Tsoi, Lam C. 分享 收藏
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