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

HMCN1 variants aggravate epidermolysis bullosa simplex phenotype

HMCN1变异加重单纯性大疱性表皮松解症表型

Shir Bergson #, Ofer Sarig #, Moshe Giladi, Janan Mohamad, Mariana Mogezel-Salem, Karina Smorodinsky-Atias, Ofir Sade, Bar Manori, Sari Assaf, Kiril Malovitski, Yarden Feller, Mor Pavlovsky, Stefan Hainzl, Thomas Kocher, Julia I Hummel, Noy Eretz Kdosha, Lubna Gazi Khair, Roland Zauner, Josefina Pin

Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence

先天性厚甲与化脓性汗腺炎并存:并非巧合

Mor Pavlovsky, Alon Peled, Ofer Sarig, Nadav Astman, Liron Malki, Odile Meijers, Sari Assaf, Janice Schwartz, Kiril Malovitski, David Hansen, Eli Sprecher, Liat Samuelov

Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma

KLF4 的功能丧失变异是常染色体显性掌跖角化病的病因

Kiril Malovitski, Ofer Sarig, Sari Assaf, Janan Mohamad, Liron Malki, Shir Bergson, Alon Peled, Marina Eskin-Schwartz, Andrea Gat, Mor Pavlovsky, Eli Sprecher

Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression

寻常型天疱疮中 ST18 的上调会驱动自扩增的 p53 依赖性病理机制,从而导致桥粒芯蛋白 3 表达降低

Sari Assaf #, Dan Vodo #, Kiril Malovitski, Janan Mohamad, Shir Bergson, Yarden Feller, Liron Malki, Ofer Sarig, Eli Sprecher

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

C3ORF52 的功能丧失变异导致局部常染色体隐性遗传性毛发稀少症

Liron Malki, Ofer Sarig, Nicole Cesarato, Janan Mohamad, Talia Canter, Sari Assaf, Mor Pavlovsky, Dan Vodo, Yossi Anis, Ofer Bihari, Kiril Malovitski, Andrea Gat, Holger Thiele, Bethany E Perez White, Liat Samuelov, Arti Nanda, Amy S Paller, Regina C Betz, Eli Sprecher