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

A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness

截短的CDC14A保留了催化结构和磷酸酶活性,从而保留了男性生育能力,但会导致非综合征性耳聋。

Shabbir, Kanwal; Jackisch, Gina; Belyantseva, Inna A; Imran, Muhammad; Naz, Sadaf; Sele, Céleste; Murina, Victoriia; Knecht, Wolfgang; Friedman, Thomas B; Logan, Derek T; Imtiaz, Ayesha

Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivity.

Taperin 将 F-肌动蛋白束固定在立体纤毛的枢轴点,从而实现最佳的终生机械敏感性

Belyantseva Inna A, Liu Chang, Dragich Abigail K, Miyoshi Takushi, Inagaki Sayaka, Imtiaz Ayesha, Tona Risa, Zuluaga-Osorio Karen Sofia, Hadi Shadan, Wilson Elizabeth, Morozko Eva, Olszewski Rafal, Yousaf Rizwan, Sokolova Yuliya, Riordan Gavin P, Aston S Andrew, Rehman Atteeq U, Fenollar Ferrer Cristina, Wisniewski Jan, Gu Shoujun, Nayak Gowri, Goodyear Richard J, Li Jinan, Krey Jocelyn F, Wafa Talah, Faridi Rabia, Adadey Samuel Mawuli, Drummond Meghan, Perrin Benjamin, Winkler Dennis C, Starost Matthew F, Cheng Hui, Fitzgerald Tracy, Richardson Guy P, Dong Lijin, Barr-Gillespie Peter G, Hoa Michael, Frolenkov Gregory I, Friedman Thomas B, Zhao Bo

AAV-mediated inner ear gene delivery triggers mild host immune responses in the mammalian inner ear.

AAV介导的内耳基因递送可引发哺乳动物内耳中轻微的宿主免疫反应

Ishibashi Yasuko, Zhu Jianliang, Gernoux Gwladys, Yu Yunkai, Suh Michelle J, Isgrig Kevin, Grati Mhamed, Olszewski Rafal, Hoa Michael, Liang Cao, Friedman Thomas B, Adjali Oumeya, Chien Wade W

MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity.

MSRB3 抗氧化活性对于内耳角质层结构和毛束完整性是必需的

Nayak Gowri, Richard Elodie M, Lee Byung Cheon, Riordan Gavin P, Belyantseva Inna A, Manta Bruno, Friedman Thomas B, Gladyshev Vadim N, Riazuddin Saima

Pathophysiology of human hearing loss associated with variants in myosins

肌球蛋白变异相关的人类听力损失的病理生理学

Miyoshi, Takushi; Belyantseva, Inna A; Sajeevadathan, Mrudhula; Friedman, Thomas B

Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome

与严重佩罗综合征相关的CLPP纯合新型截断变异体

Faridi, Rabia; Stratton, Pamela; Salmeri, Noemi; Morell, Robert J; Khan, Asma Ali; Usmani, Muhammad A; Newman, William G; Riazuddin, Sheikh; Friedman, Thomas B

Combined AAV-mediated gene replacement therapy improves auditory function in a mouse model of human DFNB42 deafness

联合AAV介导的基因替代疗法可改善人类DFNB42耳聋小鼠模型的听觉功能

Isgrig, Kevin; Cartagena-Rivera, Alexander X; Wang, Hong Jun; Grati, Mhamed; Fernandez, Katharine A; Friedman, Thomas B; Belyantseva, Inna A; Chien, Wade

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