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复旦大学上海医学院 [3]
兰州大学 [2]
山东大学 [2]
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期刊论文 [10]
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Mutations in TOP2B cause autosomal-dominant hereditary hearing loss via inhibition of the PI3K-Akt signalling pathway
期刊论文
FEBS LETTERS, 2019, 卷号: 593, 期号: 15
作者:
Xia, Wenjun
;
Hu, Jiongjiong
;
Ma, Jing
;
Huang, Jianbo
;
Jing, Tianrui
收藏
  |  
浏览/下载:31/0
  |  
提交时间:2019/12/05
deafness genes
nonsyndromic hearing loss
PI3K-Akt signalling pathway
TOP2B
zebrafish
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China
期刊论文
ANNALS OF HUMAN GENETICS, 2017, 卷号: 81, 期号: 6, 页码: 258-266
作者:
Luo, Jianfen
;
Bai, Xiaohui
;
Zhang, Fengguo
;
Xiao, Yun
;
Gu, Lintao
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/12
China
GJB2
mutation screening
nonsyndromic sensorineural hearing
loss
profound
SLC26A4
Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss
期刊论文
JOURNAL OF TRANSLATIONAL MEDICINE, 2016, 卷号: 14
作者:
Hu, Jiongjiong
;
Liu, Fei
;
Xia, Wenjun
;
Hao, Lili
;
Lan, Jun
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/05
Deafness
Ear
Transmembrane channel-like 1
Hearing loss
Missense mutation
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay
期刊论文
BIOMED RESEARCH INTERNATIONAL, 2016
作者:
Zhang, Fengguo
;
Xiao, Yun
;
Xu, Lei
;
Zhang, Xue
;
Zhang, Guodong
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/16
Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China
期刊论文
ACTA OTO-LARYNGOLOGICA, 2015, 卷号: 135, 期号: 6, 页码: 586-591
作者:
Duan, SH
;
Zhu, YM
;
Wang, YL
;
Guo, YF
;
Guo, YF (reprint author), Lanzhou Univ, Hosp 2, Dept Otolaryngol Head & Neck Surg, 82 Cuiyingmen St, Lanzhou 730030, Gansu, Peoples R China.
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2017/01/10
Deafness-related genes
GJB2
SLC26A4
mtDNA1555A > G
Han Chinese
Hui people
Tibetan
Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China
期刊论文
ACTA OTO-LARYNGOLOGICA, 2013, 卷号: 133, 期号: 9, 页码: 930-934
作者:
Yang, XL
;
Xu, BC
;
Chen, XJ
;
Bian, PP
;
Ma, JL
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2016/03/29
Genetic screening
deafness-related genes
genetic counseling
Clue to a New Deafness Gene: A Large Chinese Nonsyndromic Hearing Loss Family Linked to DFNA4
期刊论文
2012, 卷号: 39, 期号: 12, 页码: 653-657
作者:
Zong, Liang
;
Lu, Chunye
;
Zhao, Yali
;
Li, Qian
;
Han, Dongyi
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/13
Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2
期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 卷号: 86, 期号: 1
作者:
Liu, Xuezhong
;
Han, Dongyi
;
Li, Jianzhong
;
Han, Bing
;
Ouyang, Xiaomei
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/19
Crystal structure of human mu-crystallin complexed with NADPH
期刊论文
PROTEIN SCIENCE, 2007, 卷号: 16, 期号: 2, 页码: 329
Cheng, ZJ
;
Sun, LH(孙丽华)
;
He, JH(何建华)
;
Gong, WM
收藏
  |  
浏览/下载:20/0
  |  
提交时间:2012/05/11
mu-crystallin
p38 cytosolic 3
5
3 '-triiodo-L-thyronine-binding protein
crystal structure
cis/trans isomerization of proline
T-3-binding site
nonsyndromic deafness
Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies
期刊论文
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2005, 卷号: 333, 期号: 1, 页码: 122-130
作者:
Bandelt HJ[*]
;
Achilli A
;
Kong QP
;
Salas A
;
Lutz-Bonengel S
收藏
  |  
浏览/下载:27/0
  |  
提交时间:2010/08/24
mitochondrial DNA
phylogeny
mitochondrial disease
phantom mutation
documentation error
mitochondrial encephaloneuromyopathy
dilated cardiomyopathy
nonsyndromic deafness
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