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SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac Lee, Hyun Jae; Fenollar-Ferrer, Cristina; Isgrig, Kevin; Wang, Ya-Xian; Valente, Kerstin; Eide, Juleh; Honda, Keiji; Chien, Wade W.; Petralia, Ronald S.; Dong, Lijin; Friedman, Thomas B.; Bonifacino, Juan S.; Griffith, Andrew J.; Roux, Isabelle 分享 收藏
Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants Tona, Risa; Inagaki, Sayaka; Ishibashi, Yasuko; Faridi, Rabia; Yousaf, Rizwan; Roux, Isabelle; Wilson, Elizabeth; Fenollar-Ferrer, Cristina; Chien, Wade W.; Belyantseva, Inna A.; Friedman, Thomas B. 分享 收藏
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Unbalanced bidirectional radial stiffness gradients within the organ of Corti promoted by TRIOBP Babahosseini, Hesam; Belyantseva, Inna A.; Yousaf, Rizwan; Tona, Risa; Hadi, Shadan; Inagaki, Sayaka; Wilson, Elizabeth; Kitajiri, Shin-ichiro; Frolenkov, Gregory, I; Friedman, Thomas B.; Cartagena-Rivera, Alexander X. 分享 收藏
ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points Krey, Jocelyn F.; Liu, Chang; Belyantseva, Inna A.; Bateschell, Michael; Dumont, Rachel A.; Goldsmith, Jennifer; Chatterjee, Paroma; Morrill, Rachel S.; Fedorov, Lev M.; Foster, Sarah; Kim, Jinkyung; Nuttall, Alfred L.; Jones, Sherri M.; Choi, Dongseok; Friedman, Thomas B.; Ricci, Anthony J.; Zhao, Bo; Barr-Gillespie, Peter G. 分享 收藏
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome (vol 25, pg 780, 2017) 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. 分享 收藏
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria 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 分享 收藏
Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome 在Pcdh15-deficient小鼠中开发的拟议疗法，用于人类Usher综合征的视力丧失 Sethna, Saumil; Zein, Wadih M.; Riaz, Sehar; Giese, Arnaud Pj; Schultz, Julie M.; Duncan, Todd; Hufnagel, Robert B.; Brewer, Carmen C.; Griffith, Andrew J.; Redmond, T. Michael; Riazuddin, Saima; Friedman, Thomas B.; Ahmed, Zubair M. 分享 收藏
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodriguez-Palmero, Agusti; Schluter, 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. 分享 收藏
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder 对Perrault综合征的新见解，这是一种临床和遗传异质性疾病 Faridi, Rabia; Rea, Alessandro; Fenollar-Ferrer, Cristina; O'Keefe, Raymond T.; Gu, Shoujun; Munir, Zunaira; Khan, Asma Ali; Riazuddin, Sheikh; Hoa, Michael; Naz, Sadaf; Newman, William G.; Friedman, Thomas B. 分享 收藏
Variants of human CLDN9 cause mild to profound hearing loss Ramzan, Memoona; Philippe, Christophe; Belyantseva, Inna A.; Nakano, Yoko; Fenollar-Ferrer, Cristina; Tona, Risa; Yousaf, Rizwan; Basheer, Rasheeda; Imtiaz, Ayesha; Faridi, Rabia; Munir, Zunaira; Idrees, Hafiza; Salman, Midhat; Nambot, Sophie; Vitobello, Antonio; Kartti, Souad; Zarrik, Oumaima; Witmer, P. Dane; Sobreria, Nara; Ibrahimi, Azeddine; Banfi, Botond; Moutton, Sebastien; Friedman, Thomas B.; Naz, Sadaf 分享 收藏
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores 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. 分享 收藏
Actin at stereocilia tips is regulated by mechanotransduction and ADF/cofilin McGrath, Jamis; Tung, Chun-Yu; Liao, Xiayi; Belyantseva, Inna A.; Roy, Pallabi; Chakraborty, Oisorjo; Li, Jinan; Berbari, Nicolas F.; Faaborg-Andersen, Christian C.; Barzik, Melanie; Bird, Jonathan E.; Zhao, Bo; Balakrishnan, Lata; Friedman, Thomas B.; Perrin, Benjamin J. 分享 收藏
Semi-automated single-molecule microscopy screening of fast-dissociating specific antibodies directly from hybridoma cultures Miyoshi, Takushi; Zhang, Qianli; Miyake, Takafumi; Watanabe, Shin; Ohnishi, Hiroe; Chen, Jiji; Vishwasrao, Harshad D.; Chakraborty, Oisorjo; Belyantseva, Inna A.; Perrin, Benjamin J.; Shroff, Hari; Friedman, Thomas B.; Omori, Koichi; Watanabe, Naoki 分享 收藏
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