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国家自然科学基金(81271921)

作品数:2 被引量:23H指数:2
相关作者:邓昊高凯更多>>
相关机构:中南大学湘雅三医院更多>>
发文基金:国家自然科学基金中央高校基本科研业务费专项资金国家教育部博士点基金更多>>
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先天性耳前瘘管研究进展被引量:19
2013年
先天性耳前瘘管(congenitalpreauricularfistula,CPF),又称耳前窦道,1864年由VanHeusinger首先报道,是儿童常见的先天性外耳畸形。CPF主要表现为盲端小管开口于外耳皮肤上,多见于耳轮脚前,少数可开口于耳轮的后上边缘、耳屏及耳垂。通常瘘管窄小,且深浅长短不一,偶可见分支,常位于面神经和腮腺前后及侧面,几乎所有瘘管均与耳软骨的软骨膜相连。大部分CPF单侧发病,
高凯贺广湘邓昊
关键词:先天性耳前瘘管面神经软骨膜
Genetic Analysis of FBXO2, FBXO6, FBXO12, and FBXO41 Variants in Han Chinese Patients with Sporadic Parkinson's Disease被引量:4
2017年
Parkinson's disease (PD) is the second most common neurodegenerative disorder and has an elusive etiology. It is likely multifactorial, and genetic defects contribute to its pathogenesis. At least 25 genetic loci and 20 monogenic genes have been identified in monogenic PD. Recessive F-box protein 7 gene (FBX07) mutations reportedly cause hereditary parkinsonism. To explore the roles of four paralogs (FBX02, FBX06, FBX012, and FBX041) in PD development, their variants (rs9614, rs28924120, rs6442117, and rs61733550, respectively) were analyzed in 502 Han Chinese patients with PD and 556 age, gender, and ethnicity-matched normal participants in China's Mainland. Statistically significant differences in genotypic and allelic frequencies were detected only in the FBX02 variant rs9614 (P = 0.001 and 0.023, respectively; odds ratio 0.819, 95% confidence interval 0.690-0.973) between patients and controls. These results suggest that the FBX02 variant rs9614 C allele may decrease the PD risk in mainland Han Chinese and may be a biomarker for PD.
Lamei YuanZhi SongXiong DengZhijian YangYan YangYi GuoHongwei LuHao Deng
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