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Bi-allelic missense variants in human GPN2 result in Perrault syndrome 人类GPN2基因的双等位错义变异导致佩罗综合征 Smith, Thomas B.; Faridi, Rabia; Demain, Leigh A. M.; Inagaki, Sayaka; Ishibashi, Yasuko; Thomas, Huw B.; Belyantseva, Inna A.; Rea, Alessandro; Lai, King Lam; Maqbool, Arshia; Rauf, Bushra; Usmani, Muhammad Asad; Schaffer, Alejandro A.; Morell, Robert J.; Green, Andrew; Ghedia, Sondhya; Wilding, Mathilda; Hay, Robin; Sokolova, Yuliya; P. Riordan, Gavin; Schrauwen, Isabelle; Liaqat, Khurram; Riazuddin, Saima; Ahmed, Zubair M.; Chien, Wade W.; He, Langping; McGovern, Amanda; Byers, Helen; Beaman, Glenda M.; Ahmad, Wasim; Leal, Suzanne M.; Taylor, Robert W.; Riazuddin, Sheikh; O'Keefe, Raymond T.; B. Friedman, Thomas; G. Newman, William 分享 收藏
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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40 与伴侣蛋白亲环蛋白40的致病变体相关的口吃 Morgan, Angela T.; Scerri, Thomas S.; Vogel, Adam P.; Reid, Christopher A.; Quach, Mara; Jackson, Victoria E.; McKenzie, Chaseley; Burrows, Emma L.; Bennett, Mark F.; Turner, Samantha J.; Reilly, Sheena; Horton, Sarah E.; Block, Susan; Kefalianos, Elaina; Frigerio-Domingues, Carlos; Sainz, Eduardo; Rigbye, Kristin A.; Featherby, Travis J.; Richards, Kay L.; Kueh, Andrew; Herold, Marco J.; Corbett, Mark A.; Gecz, Jozef; Helbig, Ingo; Thompson-Lake, Daisy G. Y.; Liegeois, Frederique J.; Morell, Robert J.; Hung, Andrew; Drayna, Dennis; Scheffer, Ingrid E.; Wright, David K.; Bahlo, Melanie; Hildebrand, Michael S. 分享 收藏
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct Roux, Isabelle; Fenollar-Ferrer, Cristina; Lee, Hyun Jae; Chattaraj, Parna; Lopez, Ivan A.; Han, Kyungreem; Honda, Keiji; Brewer, Carmen C.; Butman, John A.; Morell, Robert J.; Martin, Donna M.; Griffith, Andrew J. 分享 收藏
TGF-β uncouples glycolysis and inflammation in macrophages and controls survival during sepsis Gauthier, Thierry; Yao, Chen; Dowdy, Tyrone; Jin, Wenwen; Lim, Yun-Ji; Patino, Liliana C.; Liu, Na; Ohlemacher, Shannon I.; Bynum, Andrew; Kazmi, Rida; Bewley, Carole A.; Mitrovic, Mladen; Martin, Daniel; Morell, Robert J.; Eckhaus, Michael; Larion, Mioara; Tussiwand, Roxane; O'Shea, John J.; Chen, WanJun 分享 收藏
Molecular architecture underlying fluid absorption by the developing inner ear Honda, Keiji; Kim, Sung Huhn; Kelly, Michael C.; Burns, Joseph C.; Constance, Laura; Li, Xiangming; Zhou, Fei; Hoa, Michael; Kelley, Matthew W.; Wangemann, Philine; Morell, Robert J.; Griffith, Andrew J. 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
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Characterizing Adult Cochlear Supporting Cell Transcriptional Diversity Using (Single-Cell RNA-Seq: Validation in the Adult Mouse and Translational Implications for the Adult Human Cochlea (vol 13, 13, 2020) Hoa, Michael; Olszewski, Rafal; Li, Xiaoyi; Taukulis, Ian; Gu, Shoujun; DeTorres, Alvin; Lopez, Ivan A.; Linthicum, Fred H., Jr.; Ishiyama, Akira; Martin, Daniel; Morell, Robert J.; Kelley, Matthew W. 分享 收藏
G protein-coupled receptor Gpr115 (Adgrf4) is required for enamel mineralization mediated by ameloblasts 成釉细胞介导的牙釉质矿化需要g蛋白偶联受体Gpr115 (Adgrf4) Chiba, Yuta; Yoshizaki, Keigo; Saito, Kan; Ikeuchi, Tomoko; Iwamoto, Tsutomu; Rhodes, Craig; Nakamura, Takashi; de Vega, Susana; Morell, Robert J.; Boger, Erich T.; Martin, Daniel; Hino, Ryoko; Inuzuka, Hiroyuki; Bleck, Christopher K. E.; Yamada, Aya; Yamada, Yoshihiko; Fukumoto, Satoshi 分享 收藏
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Characterizing Adult Cochlear Supporting Cell Transcriptional Diversity Using Single-Cell RNA-Seq: Validation in the Adult Mouse and Translational Implications for the Adult Human Cochlea Hoa, Michael; Olszewski, Rata; Li, Xiaoyi; Taukulis, Ian; Gu, Shoujun; DeTorres, Alvin; Lopez, Ivan A.; Linthicum, Fred H., Jr.; Ishiyama, Akira; Martin, Daniel; Morell, Robert J.; Kelley, Matthew W. 分享 收藏
Single Cell and Single Nucleus RNA-Seq Reveal Cellular Heterogeneity and Homeostatic Regulatory Networks in Adult Mouse Stria Vascularis Korrapati, Soumya; Taukulis, Ian; Olszewski, Rafal; Pyle, Madeline; Gu, Shoujun; Singh, Riya; Griffiths, Carla; Martin, Daniel; Boger, Erich; Morell, Robert J.; Hoa, Michael 分享 收藏
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy Tona, Risa; Chen, Wenqian; Nakano, Yoko; Reyes, Laura D.; Petralia, Ronald S.; Wang, Ya-Xian; Starost, Matthew F.; Wafa, Talah T.; Morell, Robert J.; Cravedi, Kevin D.; du Hoffmann, Johann; Miyoshi, Takushi; Munasinghe, Jeeva P.; Fitzgerald, Tracy S.; Chudasama, Yogita; Omori, Koichi; Pierpaoli, Carlo; Banfi, Botond; Dong, Lijin; Belyantseva, Inna A.; Friedman, Thomas B. 分享 收藏
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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss Richard, Elodie M.; Santos-Cortez, Regie Lyn P.; Faridi, Rabia; Rehman, Atteeq U.; Lee, Kwanghyuk; Shahzad, Mohsin; Acharya, Anushree; Khan, Asma A.; Imtiaz, Ayesha; Chakchouk, Imen; Takla, Christina; Abbe, Izoduwa; Rafeeq, Maria; Liaqat, Khurram; Chaudhry, Taimur; Bamshad, Michael J.; Nickerson, Deborah A.; Schrauwen, Isabelle; Khan, Shaheen N.; Morell, Robert J.; Zafar, Saba; Ansar, Muhammad; Ahmed, Zubair M.; Ahmad, Wasim; Riazuddin, Sheikh; Friedman, Thomas B.; Leal, Suzanne M.; Riazuddin, Saima 分享 收藏
A dysbiotic microbiome triggers TH17 cells to mediate oral mucosal immunopathology in mice and humans Dutzan, Nicolas; Kajikawa, Tetsuhiro; Abusleme, Loreto; Greenwell-Wild, Teresa; Zuazo, Carlos E.; Ikeuchi, Tomoko; Brenchley, Laurie; Abe, Toshiharu; Hurabielle, Charlotte; Martin, Daniel; Morell, Robert J.; Freeman, Alexandra F.; Lazarevic, Vanja; Trinchieri, Giorgio; Diaz, Patricia I.; Holland, Steven M.; Belkaid, Yasmine; Hajishengallis, George; Moutsopoulos, Niki M. 分享 收藏
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