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

Novel TP63 Mutation (c.1768C>T, p.Pro590Ser) Expands the Phenotypic Spectrum of TP63-related Disorders: Severe Palmoplantar Hyperkeratosis, Ectodermal Dysplasia, and Cutaneous Squamous Cell Carcinoma

一种新的TP63突变(c.1768C>T,p.Pro590Ser)扩展了TP63相关疾病的表型谱:重度掌跖角化过度、外胚层发育不良和皮肤鳞状细胞癌

Xu, Xiukuan; Lin, Zhimiao; Lin, Yayan; Kang, Hong; Xiao, Cuirong

Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma

常染色体隐性遗传毁损性掌跖角化病中的 LSS 双等位基因突变

Shengru Zhou, Xingyuan Jiang, Yuhao Zhu, Jianqiu Yang, Chunyu Yuan, Min Chen, Qianqian Zhou, Zhimiao Lin, Min Li

Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

羊毛甾醇合酶 (LSS) 的双等位基因变异导致掌跖角化病-先天性脱发综合征 2 型

Fang Yang, Xingyuan Jiang, Yuhao Zhu, Mingyang Lee, Zhengren Xu, Jianglin Zhang, Qian Li, Mao-Ying Lin, Huijun Wang, Zhimiao Lin

Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes

获得功能突变 TRPV3 引起的脱发与毛囊角质形成细胞过早分化有关

Zhongya Song, Xi Chen, Qian Zhao, Vesna Stanic, Zhimiao Lin, Shuxia Yang, Ting Chen, Jiang Chen, Yong Yang

Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns

不同遗传模式的 GPNMB 突变导致的皮肤变色性淀粉样变性病例

Wen Qin, Huijun Wang, Weilong Zhong, Juan Bai, Jianjun Qiao, Zhimiao Lin

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway

PIK3CA 体细胞移码突变通过激发 PI3K/AKT/mTOR 通路导致 CLOVES 综合征

Wei Yan #, Bin Zhang #, Huijun Wang, Ran Mo, Xingyuan Jiang, Wen Qin, Lin Ma, Zhimiao Lin

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis

DNA 聚合酶-α 通过胞浆 RNA:DNA 合成调节 I 型干扰素的活化

Petro Starokadomskyy, Terry Gemelli, Jonathan J Rios, Chao Xing, Richard C Wang, Haiying Li, Vladislav Pokatayev, Igor Dozmorov, Shaheen Khan, Naoteru Miyata, Guadalupe Fraile, Prithvi Raj, Zhe Xu, Zigang Xu, Lin Ma, Zhimiao Lin, Huijun Wang, Yong Yang, Dan Ben-Amitai, Naama Orenstein, Huda Mussaffi

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads

CAST 功能丧失突变会导致皮肤剥落、白甲病、肢端点状角化病、唇炎和指关节垫

Zhimiao Lin, Jiahui Zhao, Daniela Nitoiu, Claire A Scott, Vincent Plagnol, Frances J D Smith, Neil J Wilson, Christian Cole, Mary E Schwartz, W H Irwin McLean, Huijun Wang, Cheng Feng, Lina Duo, Eray Yihui Zhou, Yali Ren, Lanlan Dai, Yulan Chen, Jianguo Zhang, Xun Xu, Edel A O'Toole, David P Kelsell

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia

HOXC13 功能丧失突变导致纯毛发和指甲外胚层发育不良

Zhimiao Lin, Quan Chen, Lei Shi, Mingyang Lee, Kathrin A Giehl, Zhanli Tang, Huijun Wang, Jie Zhang, Jinghua Yin, Lingshen Wu, Ruo Xiao, Xuanzhu Liu, Lanlan Dai, Xuejun Zhu, Ruoyu Li, Regina C Betz, Xue Zhang, Yong Yang