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

Small Molecule MIF Modulation Enhances Ferroptosis by Impairing DNA Repair Mechanisms

小分子MIF调控通过损害DNA修复机制增强铁死亡

Chen, Deng; Zhao, Chunlong; Zhang, Jianqiu; Knol, Catharina W J; Osipyan, Angelina; Majerníková, Nad'a; Chen, Tingting; Xiao, Zhangping; Adriana, Jeaunice; Griffith, Andrew J; Gamez, Abel Soto; van der Wouden, Petra E; Coppes, Robert P; Dolga, Amalia M; Haisma, Hidde J; Dekker, Frank J

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy

LRP2基因的变体编码一种多功能细胞表面内吞受体,与听力损失和视网膜营养不良有关。

Faridi, Rabia; Yousaf, Rizwan; Gu, Shoujun; Inagaki, Sayaka; Turriff, Amy E; Pelstring, Keith; Guan, Bin; Naik, Amelia; Griffith, Andrew J; Adadey, Samuel Mawuli; Aboagye, Elvis Twumasi; Awandare, Gordon A; Morell, Robert J; Tsilou, Ekaterini; Noyes, Amanda G; Sulmonte, Laura A G; Wonkam, Ambroise; Schrauwen, Isabelle; Leal, Suzanne M; Azaiez, Hela; Brewer, Carmen C; Riazuddin, Sheikh; Hufnagel, Robert B; Hoa, Michael; Zein, Wadih M; de Dios, J Karl; Friedman, Thomas B

Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome

基因疗法恢复了 Usher 综合征小鼠模型的平衡和听觉功能

Isgrig, Kevin; Shteamer, Jack W; Belyantseva, Inna A; Drummond, Meghan C; Fitzgerald, Tracy S; Vijayakumar, Sarath; Jones, Sherri M; Griffith, Andrew J; Friedman, Thomas B; Cunningham, Lisa L; Chien, Wade W

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

尼日利亚约鲁巴族儿童听力损失的基因组分析

Adeyemo, Adebolajo; Faridi, Rabia; Chattaraj, Parna; Yousaf, Rizwan; Tona, Risa; Okorie, Samuel; Bharadwaj, Thashi; Nouel-Saied, Liz M; Acharya, Anushree; Schrauwen, Isabelle; Morell, Robert J; Leal, Suzanne M; Friedman, Thomas B; Griffith, Andrew J; Roux, Isabelle

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

疾病特异性的ACMG/AMP指南改进了听力损失的序列变异解读。

Patel, Mayher J; DiStefano, Marina T; Oza, Andrea M; Hughes, Madeline Y; Wilcox, Emma H; Hemphill, Sarah E; Cushman, Brandon J; Grant, Andrew R; Siegert, Rebecca K; Shen, Jun; Chapin, Alex; Boczek, Nicole J; Schimmenti, Lisa A; Nara, Kiyomitsu; Kenna, Margaret; Azaiez, Hela; Booth, Kevin T; Avraham, Karen B; Kremer, Hannie; Griffith, Andrew J; Rehm, Heidi L; Amr, Sami S; Tayoun, Ahmad N Abou

Cochlear Pathomorphogenesis of Incomplete Partition Type II in Slc26a4-Null Mice

Slc26a4基因敲除小鼠耳蜗不完全分隔II型病理形态发生

Ito, Taku; Fujikawa, Taro; Honda, Keiji; Makabe, Ayane; Watanabe, Hiroki; Bai, Jing; Kawashima, Yoshiyuki; Miwa, Toru; Griffith, Andrew J; Tsutsumi, Takeshi

Atypical and ultra-rare Usher syndrome: a review

非典型和极其罕见的 Usher 综合征:综述

Nolen, Rosalie M; Hufnagel, Robert B; Friedman, Thomas B; Turriff, Amy E; Brewer, Carmen C; Zalewski, Christopher K; King, Kelly A; Wafa, Talah T; Griffith, Andrew J; Brooks, Brian P; Zein, Wadih M

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

SLC26A4 连锁的 CEVA 单倍型与前庭导水管扩大患者的表型相关。

Chao, Janet R; Chattaraj, Parna; Munjal, Tina; Honda, Keiji; King, Kelly A; Zalewski, Christopher K; Chien, Wade W; Brewer, Carmen C; Griffith, Andrew J

Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function

在由Tmc1功能丧失引起的DFNB7/B11耳聋小鼠模型中,Tmc2表达可部分恢复听觉功能。

Nakanishi, Hiroshi; Kurima, Kiyoto; Pan, Bifeng; Wangemann, Philine; Fitzgerald, Tracy S; Géléoc, Gwenaëlle S; Holt, Jeffrey R; Griffith, Andrew J

Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation

由NLRP3基因突变和耳蜗自身炎症引起的DFNA34型听力损失的逐渐对称进展

Nakanishi, Hiroshi; Kawashima, Yoshiyuki; Kurima, Kiyoto; Muskett, Julie A; Kim, H Jeffrey; Brewer, Carmen C; Griffith, Andrew J