title: De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
authors.affiliation: 1] Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China [2] Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
authors.forename: Yongyi
authors.initials: Y
authors.lastname: Yuan
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, Guangdong 518083, China [2] T-Life Research Center, Fudan University, Shanghai 200433, China.
authors.forename: Jianguo
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
authors.forename: Qing
authors.initials: Q
authors.lastname: Chang
authors.affiliation: Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
authors.forename: Jin
authors.initials: J
authors.lastname: Zeng
authors.affiliation: Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Xin
authors.affiliation: Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
authors.forename: Jianjun
authors.initials: J
authors.lastname: Wang
authors.affiliation: BGI-Shenzhen, Shenzhen, Guangdong 518083, China.
authors.forename: Qingyan
authors.initials: Q
authors.lastname: Zhu
authors.affiliation: BGI-Tianjin, Tianjin 200000, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
authors.forename: Jingqiao
authors.initials: J
authors.lastname: Lu
authors.affiliation: Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Weiwei
authors.initials: W
authors.lastname: Guo
authors.affiliation: Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Xukun
authors.initials: X
authors.lastname: Yan
authors.affiliation: BGI-Shenzhen, Shenzhen, Guangdong 518083, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
authors.forename: Binfei
authors.initials: B
authors.lastname: Zhou
authors.affiliation: Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
authors.forename: Qi
authors.initials: Q
authors.lastname: Li
authors.affiliation: Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Xue
authors.initials: X
authors.lastname: Gao
authors.affiliation: Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Huijun
authors.initials: H
authors.lastname: Yuan
authors.affiliation: Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Shiming
authors.initials: S
authors.lastname: Yang
authors.affiliation: Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Dongyi
authors.initials: D
authors.lastname: Han
authors.affiliation: 1] Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA [2] Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
authors.forename: Zixu
authors.initials: Z
authors.lastname: Mao
authors.affiliation: Department of Cell biology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
authors.forename: Ping
authors.initials: P
authors.lastname: Chen
authors.affiliation: Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
authors.forename: Xi
authors.initials: X
authors.lastname: Lin
authors.affiliation: 1] Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China [2] Department of Otolaryngology, Hainan Branch of PLA General Hospital, Sanya, Hainan 572000, China.
authors.forename: Pu
authors.initials: P
authors.lastname: Dai
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002460:Cell Line; D003051:Cochlea / Q000378:metabolism / Q000473:pathology; D005260:Female; D034381:Hearing Loss / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D060172:Morpholinos / Q000378:metabolism; D009260:Nail Diseases / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D025262:Vacuolar Proton-Translocating ATPases / Q000037:antagonists & inhibitors / Q000235:genetics* / Q000378:metabolism
chemical_list: D060172:Morpholinos; D025262:Vacuolar Proton-Translocating ATPases; C000599123:ATP6V1B2 protein, human