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中南大学 [5]

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	Identification of novel mutations in hfe, hfe2, tfr2, and slc40a1 genes in chinese patients affected by hereditary hemochromatosis 期刊论文 International journal of hematology, 2017, 卷号: 105, 期号: 4, 页码: 521-525 作者: Wang, Yongwei; Du, Yali; Liu, Gang; Guo, Shanshan; Hou, Bo 收藏 \| 浏览/下载：28/0 \| 提交时间：2019/04/23 Hereditary hemochromatosis Chinese patients Novel mutations
	Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children 期刊论文 Gene, 2017, 卷号: 625, 页码: 15-20 作者: Wang, Ying; Dang, Xiqiang; He, Qingnan; Zhen, Yan; He, Xiaoxie 收藏 \| 浏览/下载：12/0 \| 提交时间：2019/12/03 SRNS steroid-resistant nephrotic syndrome INS idiopathic nephrotic syndrome CNS congenital nephrotic syndrome FSGS focal segmental glomerulosclerosis TBMN thin basement membrane nephropathy MsPGN mesangioproliferative glomerulonephritis IgMN Immunoglobulin M nephropathy NGS next generation DNA sequencing PPH2 Polyphen-2 (PPH2) MA Mutation Assessor Nephrotic syndrome Steroid-resistant Gene mutation SRNS NGS
	Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson's disease patients 期刊论文 Neuroscience Letters, 2016, 卷号: 616, 页码: 26-31 作者: Yuan, Lamei; Song, Zhi; Deng, Xiong; Xiong, Wei; Yang, Zhijian 收藏 \| 浏览/下载：9/0 \| 提交时间：2019/12/03 PD Parkinson’s disease MAPT the microtubule-associated protein tau gene GBA the glucocerebrosidase gene SMPD1 the sphingomyelin phosphodiesterase 1, acid lysosomal gene MTHFR the methylenetetrahydrofolate reductase gene dbSNP database of single nucleotide polymorphisms SIFT Sorting Intolerant from Tolerant PolyPhen-2 Polymorphism Phenotyping version 2 MALDI-TOF MS Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry PCR polymerase chain reaction PASW Predictive Analytics Software OR odds ratio CI confidence interval Parkinson’s disease MTHFR gene Variant rs1801131 rs1801133
	Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease 期刊论文 Neuroscience Letters, 2016, 卷号: 612, 页码: 189-192 作者: Tan, Ting; Song, Zhi; Yuan, Lamei; Xiong, Wei; Deng, Xiong 收藏 \| 浏览/下载：14/0 \| 提交时间：2019/12/03 PD Parkinson’s disease AD Alzheimer’s disease TREM2 the triggering receptor expressed on myeloid cells 2 gene VPS35 the vacuolar protein sorting 35 gene EIF4G1 the eukaryotic translation initiation factor 4-gamma 1 gene S100B the S100 calcium binding protein B gene FBXO48 the F-box protein 48 gene RAB39B the RAB39B, member RAS oncogene family gene TCEANC2 the transcription elongation factor A (SII) N-terminal and central domain containing 2 gene MC1R the melanocortin 1 receptor gene SIFT Sorting Intolerant from Tolerant PolyPhen-2 Polymorphism Phenotyping v2 SNP single nucleotide polymorphism MAF minor allele frequency PCR polymerase chain reaction FTD frontotemporal dementia FTLD frontotemporal lobar degeneration ALS amyotrophic lateral sclerosis Sporadic Parkinson’s disease TREM2 gene rs75932628 rs2234253 Genetic analysis Chinese Han
	A novel mutation of GATA4 (K300T) associated with familial atrial septal defect 期刊论文 Gene, 2015, 卷号: 575, 期号: 2, 页码: 473-477 作者: Chen, Jia; Qi, Bingyang; Zhao, Juan; Liu, Wei; Duan, Ranhui* 收藏 \| 浏览/下载：9/0 \| 提交时间：2019/12/03 CHD congenital heart diseases ToF tetralogy of Fallot ASD atrial septal defect VSD ventricular septal defect AVSD atrioventricular septal defect DCM dilated cardiomyopathy HGMD human gene mutation database dbSNP database of Single Nucleotide Polymorphisms EVSD Exome Variant Server Database NLS nuclear localization signal SNP Single nucleotide polymorphism GATK Genome Analysis Toolkit PolyPhen-2 Polymorphism Phenotyping v2 SIFT Sorting Intolerant From Tolerant TAD transcription activation domain N-Znf N-terminal zinc finger C-Znf C-terminal zinc finger Ventricular septal defect Incomplete penetrance Whole exome sequencing Post-translational modification Methylation
	心脏传导阻滞一家系的分子遗传学研究期刊论文中华医学遗传学杂志, 2015 谭小军; 黄河; 朱莉; 卢永娟; 蒋云山; 李辉; 黄向红; 孙智山; 李志宏收藏 \| 浏览/下载：7/0 \| 提交时间：2017/12/03 家族性心脏传导阻滞 CLCA2基因基因突变生物信息学 Familial heart block CLCA2 gene Gene mutation Bioinformatics
	A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis 期刊论文 Gene, 2014, 卷号: 534, 期号: 2, 页码: 320-323 作者: Xiang, Rong; Fan, Liang-Liang; Huang, Hao; Cao, Bei-Bei; Li, Xiang-Ping 收藏 \| 浏览/下载：2/0 \| 提交时间：2019/12/03 CHD congenital heart defects PS pulmonary valve stenosis polyphen2 polymorphism phenotyping SIFT Sorting Intolerant From Tolerant dbSNP Single Nucleotide Polymorphism Database ASD atrial septal defect VSD ventricular septal defect TOF tetralogy of Fallot HRV hypoplastic right ventricle TAPVR total anomalous pulmonary venous retour NLS nuclear localization signals SNP single nucleotide polymorphism PCR polymerase chain reaction Congenital heart disease Atrial septal defect ASD GATA4 Transcription factor
	How immunogenetically different are domestic pigs from wild boars: a perspective from single-nucleotide polymorphisms of 19 immunity-related candidate genes 期刊论文 IMMUNOGENETICS, 2013, 卷号: 65, 期号: 10, 页码: 737-748 作者: Chen SY; Gomes R; Costa V; Santos P; Charneca R 收藏 \| 浏览/下载：16/0 \| 提交时间：2013/10/08 Wild boar Domestic pig Single nucleotide polymorphism Positive selection Balancing selection
	FunSAV: Predicting the Functional Effect of Single Amino Acid Variants Using a Two-Stage Random Forest Model 期刊论文 PLOS ONE, 2012, 卷号: 7, 期号: 8, 页码: e43847 作者: Wang, Mingjun; Zhao, Xing-Ming; Takemoto, Kazuhiro; Xu, Haisong; Li, Yuan 收藏 \| 浏览/下载：18/0 \| 提交时间：2012/10/12
	人类Ⅱ相药物毒物代谢酶非同义单核苷酸多态性的表型预测:分子进化观期刊论文 2011, 卷号: 41, 期号: 2, 页码: 97-108 作者: 郝大程; 肖培根; 陈士林收藏 \| 浏览/下载：9/0 \| 提交时间：2020/01/13 表型 PolyPhen Panther SNAP SNP Ⅱ相药物毒物代谢酶

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