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

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

五例ELN基因突变揭示常染色体显性遗传性皮肤松弛症发病机制的新见解

Callewaert, Bert; Renard, Marjolijn; Hucthagowder, Vishwanathan; Albrecht, Beate; Hausser, Ingrid; Blair, Edward; Dias, Cristina; Albino, Alice; Wachi, Hiroshi; Sato, Fumiaki; Mecham, Robert P; Loeys, Bart; Coucke, Paul J; De Paepe, Anne; Urban, Zsolt

Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.

LTBP4 基因突变会导致肺部、胃肠道、泌尿生殖系统、肌肉骨骼和皮肤发育受损的综合征

Urban Zsolt, Hucthagowder Vishwanathan, Schürmann Nura, Todorovic Vesna, Zilberberg Lior, Choi Jiwon, Sens Carla, Brown Chester W, Clark Robin D, Holland Kristen E, Marble Michael, Sakai Lynn Y, Dabovic Branka, Rifkin Daniel B, Davis Elaine C

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

ATP6V0A2 功能缺失突变会损害囊泡运输、原弹性蛋白分泌和细胞存活。

Hucthagowder, Vishwanathan; Morava, Eva; Kornak, Uwe; Lefeber, Dirk J; Fischer, Björn; Dimopoulou, Aikaterini; Aldinger, Annika; Choi, Jiwon; Davis, Elaine C; Abuelo, Dianne N; Adamowicz, Maciej; Al-Aama, Jumana; Basel-Vanagaite, Lina; Fernandez, Bridget; Greally, Marie T; Gillessen-Kaesbach, Gabriele; Kayserili, Hulya; Lemyre, Emmanuelle; Tekin, Mustafa; Türkmen, Seval; Tuysuz, Beyhan; Yüksel-Konuk, Berrin; Mundlos, Stefan; Van Maldergem, Lionel; Wevers, Ron A; Urban, Zsolt