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A frameshift variant in FAM129C contributes to achalasia through B cell responses against the GABAA receptor.

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Title: A frameshift variant in FAM129C contributes to achalasia through B cell responses against the GABAA receptor.
Authors: Li XQ; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Li XY; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Chen WF; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Xu ZY; Department of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, Jiangsu, China., Liu ZQ; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Wang Y; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Zhang JY; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Gu YY; Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu, China., Yao L; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Tan YF; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Chen XJ; Department of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, China., Deng B; Department of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, China., Wang KH; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Xu JQ; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., He MJ; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Geng ZH; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Fan KY; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Zhang ZC; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Wang L; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Xiang AY; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Pan HT; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China., Hu ZB; Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu, China., Xie YL; Institutes of Brain Science, Fudan University, Shanghai, China. yunli.xie@fudan.edu.cn., Wang C; Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China. cheng_wang29@njmu.edu.cn.; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu, China. cheng_wang29@njmu.edu.cn., Zhou PH; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China. zhou.pinghong@zs-hospital.sh.cn.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China. zhou.pinghong@zs-hospital.sh.cn., Li QL; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China. li.quanlin@zs-hospital.sh.cn.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China. li.quanlin@zs-hospital.sh.cn.
Source: Nature communications [Nat Commun] 2026 May 25. Date of Electronic Publication: 2026 May 25.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A frameshift variant in FAM129C contributes to achalasia through B cell responses against the GABA<subscript>A</subscript> receptor.
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  Data: <searchLink fieldCode="AU" term="%22Li+XQ%22">Li XQ</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Li+XY%22">Li XY</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Chen+WF%22">Chen WF</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Xu+ZY%22">Xu ZY</searchLink>; Department of Bioinformatics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, Jiangsu, China.<br /><searchLink fieldCode="AU" term="%22Liu+ZQ%22">Liu ZQ</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Zhang+JY%22">Zhang JY</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Gu+YY%22">Gu YY</searchLink>; Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu, China.<br /><searchLink fieldCode="AU" term="%22Yao+L%22">Yao L</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Tan+YF%22">Tan YF</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Chen+XJ%22">Chen XJ</searchLink>; Department of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Deng+B%22">Deng B</searchLink>; Department of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Wang+KH%22">Wang KH</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Xu+JQ%22">Xu JQ</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22He+MJ%22">He MJ</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Geng+ZH%22">Geng ZH</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Fan+KY%22">Fan KY</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Zhang+ZC%22">Zhang ZC</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Wang+L%22">Wang L</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Xiang+AY%22">Xiang AY</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Pan+HT%22">Pan HT</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Hu+ZB%22">Hu ZB</searchLink>; Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu, China.<br /><searchLink fieldCode="AU" term="%22Xie+YL%22">Xie YL</searchLink>; Institutes of Brain Science, Fudan University, Shanghai, China. yunli.xie@fudan.edu.cn.<br /><searchLink fieldCode="AU" term="%22Wang+C%22">Wang C</searchLink>; Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China. cheng_wang29@njmu.edu.cn.; State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu, China. cheng_wang29@njmu.edu.cn.<br /><searchLink fieldCode="AU" term="%22Zhou+PH%22">Zhou PH</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China. zhou.pinghong@zs-hospital.sh.cn.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China. zhou.pinghong@zs-hospital.sh.cn.<br /><searchLink fieldCode="AU" term="%22Li+QL%22">Li QL</searchLink>; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai, China. li.quanlin@zs-hospital.sh.cn.; Shanghai Collaborative Innovation Center of Endoscopy, Shanghai, China. li.quanlin@zs-hospital.sh.cn.
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