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

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

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

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

Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores

人类耳聋相关变异会改变毛细胞立体纤毛F-肌动蛋白核心中关键分子的动力学

Miyoshi, Takushi; Belyantseva, Inna A; Kitajiri, Shin-Ichiro; Miyajima, Hiroki; Nishio, Shin-Ya; Usami, Shin-Ichi; Kim, Bong Jik; Choi, Byung Yoon; Omori, Koichi; Shroff, Hari; Friedman, Thomas B

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

线粒体 RNase P 亚基 PRORP 的双等位基因变异会导致线粒体 tRNA 加工缺陷和多效性多系统表现。

Hochberg, Irit; Demain, Leigh A M; Richer, Julie; Thompson, Kyle; Urquhart, Jill E; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez-Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A; McMillan, Hugh J; Barzik, Melanie; Beaman, Glenda M; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G; Bhaskar, Sanjeev S; Lawrence, Isabella R; Jenkinson, Emma M; Zambonin, Jessica L; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W; Zschocke, Johannes; Munro, Kevin J; Battersby, Brendan J; Friedman, Thomas B; Taylor, Robert W; O'Keefe, Raymond T; Newman, William G

Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice

基因疗法恢复了聋小鼠内耳毛细胞纤毛形态

Chien, Wade W; Isgrig, Kevin; Roy, Soumen; Belyantseva, Inna A; Drummond, Meghan C; May, Lindsey A; Fitzgerald, Tracy S; Friedman, Thomas B; Cunningham, Lisa L

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

由S1PR2基因内罕见错义变异引起的常染色体隐性遗传性听力障碍

Santos-Cortez, Regie Lyn P; Faridi, Rabia; Rehman, Atteeq U; Lee, Kwanghyuk; Ansar, Muhammad; Wang, Xin; Morell, Robert J; Isaacson, Rivka; Belyantseva, Inna A; Dai, Hang; Acharya, Anushree; Qaiser, Tanveer A; Muhammad, Dost; Ali, Rana Amjad; Shams, Sulaiman; Hassan, Muhammad Jawad; Shahzad, Shaheen; Raza, Syed Irfan; Bashir, Zil-E-Huma; Smith, Joshua D; Nickerson, Deborah A; Bamshad, Michael J; Riazuddin, Sheikh; Ahmad, Wasim; Friedman, Thomas B; Leal, Suzanne M