用于发现 IgA 肾病非侵入性诊断生物标志物的综合基因组学方法-猫眼课题宝

用于发现 IgA 肾病非侵入性诊断生物标志物的综合基因组学方法

批准号：

MR/K01353X/1

负责人：

Mario Falchi

金额：

$111.97万

依托单位：

Imperial College London

依托单位国家：

英国

项目类别：

Research Grant

财政年份：

2013

资助国家：

英国

项目状态：

已结题

起止时间：

2013 至 --

来源：

https://gtr.ukri.org/projects?ref=MR%2FK01353X%2F1

关键词：

integrative genomics approach non invasive

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英文摘要

IgAN is the commonest form of glomerulonephritis worldwide. Currently the diagnosis can only be made by kidney biopsy, and a single biopsy provides limited information about the future risk of kidney failure. In addition, since this disease can run in families, there is a need for a test to predict whether relatives of patients might develop the disease. We aim to use genetic analysis, together with clinical measurements and disease markers, such as deglycosylated IgA to develop a way of predicting which patients are at risk of progression and which relatives are at risk of developing the disease.

期刊论文(10)

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会议论文

PopPAnTe: population and pedigree association testing for quantitative data.

DOI： 10.1186/s12864-017-3527-7

发表时间： 2017-02-10

期刊：

BMC genomics

影响因子： 4.4

作者：

[Visconti A, Al-Shafai M, Al Muftah WA, Zaghlool SB, Mangino M, Suhre K, Falchi M]

通讯作者： Falchi M

Glomerular Complement Factor H-Related Protein 5 (FHR5) Is Highly Prevalent in C3 Glomerulopathy and Associated With Renal Impairment

DOI： 10.1016/j.ekir.2019.06.008

发表时间： 2019-10-01

期刊：

KIDNEY INTERNATIONAL REPORTS

影响因子： 6

作者：

[Medjeral-Thomas, Nicholas R., Moffitt, Hilary, Pickering, Matthew C.]

通讯作者： Pickering, Matthew C.

Low copy number of the salivary amylase gene predisposes to obesity.

唾液淀粉酶基因的低拷贝数易于肥胖。

DOI： 10.1038/ng.2939

发表时间： 2014-05

期刊：

Nature genetics

影响因子： 30.8

作者：

[Falchi M, El-Sayed Moustafa JS, Takousis P, Pesce F, Bonnefond A, Andersson-Assarsson JC, Sudmant PH, Dorajoo R, Al-Shafai MN, Bottolo L, Ozdemir E, So HC, Davies RW, Patrice A, Dent R, Mangino M, Hysi PG, Dechaume A, Huyvaert M, Skinner J, Pigeyre M, Caiazzo R, Raverdy V, Vaillant E, Field S, Balkau B, Marre M, Visvikis-Siest S, Weill J, Poulain-Godefroy O, Jacobson P, Sjostrom L, Hammond CJ, Deloukas P, Sham PC, McPherson R, Lee J, Tai ES, Sladek R, Carlsson LM, Walley A, Eichler EE, Pattou F, Spector TD, Froguel P]

通讯作者： Froguel P

Progressive IgA Nephropathy Is Associated With Low Circulating Mannan-Binding Lectin-Associated Serine Protease-3 (MASP-3) and Increased Glomerular Factor H-Related Protein-5 (FHR5) Deposition.

DOI： 10.1016/j.ekir.2017.11.015

发表时间： 2018-03

期刊：

Kidney international reports

影响因子： 6

作者：

[Medjeral-Thomas NR, Troldborg A, Constantinou N, Lomax-Browne HJ, Hansen AG, Willicombe M, Pusey CD, Cook HT, Thiel S, Pickering MC]

通讯作者： Pickering MC

PopPAnTe: population and pedigree association testing for quantitative data

PopPAnTe：定量数据的人口和谱系关联测试