1 |
Cho NH,Shaw JE,Karuranga S, et al. IDF Diabetes Atlas: Global estimates for the prevalence of diabetes for 2017 and projections for 2045 [J]. Diabetes Res Clin Pract, 2018, 138: 271-281.
|
2 |
Stadler ZK,Vijai J,Thom P, et al. Genome-wide association studies of cancer predisposition [J]. Hematol Oncol Clin North Am, 2010, 24(5): 973-996.
|
3 |
张鑫, 李敏, 张学军. 全基因组外显子测序及其应用[J].遗传, 2011, 33(8):847-856.
|
4 |
Ng SB,Turner EH,Robertson PD, et al.Targeted capture and massively parallel sequencing of 12 human exomes [J]. Nature, 2009, 461(7261): 272-276
|
5 |
Ng SB,Buckingham KJ,Lee C, et al.Exome sequencing identifies the cause of a mendelian disorder [J]. Nat Genet, 2010, 42(1): 30-35.
|
6 |
Yang Y,Muzny DM,Reid JG, et al.Clinical whole-exome sequencing for the diagnosis of mendelian disorders [J]. N Engl J Med, 2013, 369(16): 1502-1511.
|
7 |
Bamshad MJ,Ng SB,Bigham AW, et al.Exome sequencing as a tool for Mendelian disease gene discovery [J]. Nat Rev Genet, 2011, 12(11): 745-755.
|
8 |
Veltman JA,Brunner HG.De novo mutations in human genetic disease [J]. Nat Rev Genet, 2012, 13(8): 565-575.
|
9 |
Gnirke A,Melnikov A,Maguire J, et al.Solution hybrid selection With ultra-long oligonucleotides for massively parallel targeted sequencing [J]. Nat Biotechnol, 2009, 27(2): 182-189.
|
10 |
Rabbani B,Mahdieh N,Hosomichi K, et al. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders [J]. J Hum Genet, 2012, 57(10): 621-632.
|
11 |
饶书权, 杜廷福, 许琪. 外显子组测序在人类疾病中的应用[J]. 遗传, 2014, 36(11):1077-1086.
|
12 |
Clark MJ,Chen R,Lam HY, et al.Performance comparison of exome DNA sequencing technologies [J]. Nat Biotechnol, 2011, 29(10): 904-914.
|
13 |
Uwe S,Andreas G,Marius F, et al.De novo 454 sequencing of barcoded BAC pools for comprehensive gene survey and genome analysis in the complex genome of barley [J]. BMC Genomics, 2009, 10(1): 547.
|
14 |
Wheeler DA,Srinivasan M,Egholin M, et al. The complete genome of an individual by massively parallel DNA sequencing [J]. Nature, 2008, 452(7189): 872-876.
|
15 |
Mardis ER. Next-generation DNA sequencing methods [J]. Annu Rev Genomics Hum Genet, 2007, 9(1): 387-402.
|
16 |
罗东凤, 王少元. 全基因组外显子测序及其在遗传病研究中的应用[J]. 国际遗传学杂志, 2012, 35(3): 173-177.
|
17 |
赵蓓, 陈学军, 周夕湲, 等. 应用全外显子测序技术查找有汗性外胚叶发育不良综合征家系致病基因[J].中国皮肤性病学杂志, 2017, 31(9): 956-960.
|
18 |
Botstein D,Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease [J]. Nat Genet, 2003, 33(3): 228-237.
|
19 |
Mcclellan JM,Susser E,King MC. Schizophrenia: a common disease caused by multiple rare alleles. [J]. Br J Psychiatry, 2007, 190(3): 194-199.
|
20 |
Mcclellan J,King MC. Genetic heterogeneity in human disease [J]. Cell, 2010, 141(2): 210-217.
|
21 |
Holm H,Gudbjartsson DF,Sulem P, et al. A rare variant in MAYH6 is associated with high risk of sick sinus synodrome [J]. Nat Genet, 2011, 43(4): 316.
|
22 |
Li Y,Vinckenbosch N,Tian G, et al. Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants [J]. Nat genet, 2010, 42(11): 969-972.
|
23 |
Albrechtsen A,Grarup N,Li Y, et al. Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes [J]. Diabetologia, 2013, 56(2): 298-310.
|
24 |
Estrada K,Aukrust Ⅰ,Bjørkhaug L, et al. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population [J]. Jama, 2014, 311(22): 2305-2314.
|
25 |
Fuchsberger C,Flannick J,Teslovich TM, et al.The genetic architecture of type 2 diabetes [J]. Nature, 2016, 536(7614): 41.
|
26 |
Xue A,Wu Y,Zhu Z, et al. Genome-wide assocition analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes [J]. Nat commun, 2018, 9(1): 2491.
|
27 |
Tanaka D,Nagashima K,Sasaki M, et al. Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes [J]. Mol Genet Metab, 2013, 109(1): 112-117.
|
28 |
何欢, 罗志军. 磷脂酰乙醇胺结合蛋白4结构和功能特证性研究以及与2型糖尿病的关联[D]. 南昌大学, 2016.
|
29 |
王帅, 金磊, 海春旭, 等. PI3K/AKt信号通路在胰岛素抵抗中作用的研究进展. 毒理学杂志, 2015, 29(4): 313-316.
|
30 |
张雅中, 房辉, 田金莉, 等. 2型糖尿病家系胰岛素抵抗与血清抵抗素水平的相关性研究[J]. 中国现代医学杂志, 2012, 22(1): 42-44.
|
31 |
黄融, 胡耀敏, 陈雅文, 等. 2型糖尿病家系一级亲属的胰岛素抵抗和胰岛β细胞功能研究[J]. 上海交通大学学报, 2011, 31(7): 937-941.
|
32 |
Ung C,Sanchez AV,Shen L, et al.Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy [J]. Vision res, 2017, 139.
|
33 |
杨光燃, 阿叁, 冯伟, 等.糖尿病增殖型视网膜病变外显子组测序研究[J]. 首都医科大学学报, 2011, 32(5): 598-601.
|
34 |
王玉华, 蔡春友, 李卫东, 等. 全外显子组测序发现FUT6基因在1例糖尿病肾病中的终止突变[J]. 天津医科大学学报, 2015, 21(1): 18-21.
|
35 |
王玉华. FUT6在TGF-β诱导的肾小管上皮-间充质转化中的作用研究[D]. 天津医科大学, 2015.
|
36 |
Strutz FM.EMT and proteinuria as progression factors [J]. Kidney Int, 2009, 75(5): 475-481.
|