日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Mapping chromatin interactions at melanoma susceptibility loci and cell-type specific dataset integration uncovers distant gene targets of cis-regulation

绘制黑色素瘤易感基因位点的染色质相互作用和细胞类型特异性数据集整合可揭示顺式调控的远距离基因靶点

Rohit Thakur, Mai Xu, Hayley Sowards, Joshuah Yon, Lea Jessop, Timothy Myers, Tongwu Zhang, Raj Chari, Erping Long, Thomas Rehling, Rebecca Hennessey, Karen Funderburk, Jinhu Yin, Mitchell J Machiela, Matthew E Johnson, Andrew D Wells, Alessandra Chesi, Struan F A Grant, Mark M Iles, Maria Teresa La

Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity

大规模并行报告基因检测和变异评分确定了黑色素瘤基因座的功能变异和靶基因,并强调了细胞类型特异性

Erping Long, Jinhu Yin, Karen M Funderburk, Mai Xu, James Feng, Alexander Kane, Tongwu Zhang, Timothy Myers, Alyxandra Golden, Rohit Thakur, Hyunkyung Kong, Lea Jessop, Eun Young Kim, Kristine Jones, Raj Chari, Mitchell J Machiela, Kai Yu; Melanoma Meta-Analysis Consortium; Mark M Iles, Maria Teresa

A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR

7p21.1 染色体带上的 UVB 反应常见变异通过调节芳烃受体 AHR 导致晒黑反应和黑色素瘤风险

Mai Xu, Lindsey Mehl, Tongwu Zhang, Rohit Thakur, Hayley Sowards, Timothy Myers, Lea Jessop, Alessandra Chesi, Matthew E Johnson, Andrew D Wells, Helen T Michael, Patricia Bunda, Kristine Jones, Herbert Higson, Rebecca C Hennessey, Ashley Jermusyk, Michael A Kovacs, Maria Teresa Landi, Mark M Iles, 

Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanisms

细胞类型特异性的 meQTL 将黑色素瘤 GWAS 注释扩展到 eQTL 之外,并为黑色素细胞基因调控机制提供信息

Tongwu Zhang, Jiyeon Choi, Ramile Dilshat, Berglind Ósk Einarsdóttir, Michael A Kovacs, Mai Xu, Michael Malasky, Salma Chowdhury, Kristine Jones, D Timothy Bishop, Alisa M Goldstein, Mark M Iles, Maria Teresa Landi, Matthew H Law, Jianxin Shi, Eiríkur Steingrímsson, Kevin M Brown

Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma

46个SNP多基因风险评分与荷兰家族性黑色素瘤患者黑色素瘤风险之间的关联

Thomas P Potjer ,Tara W J van der Grinten ,Inge M M Lakeman ,Sander H Bollen ,Mar Rodríguez-Girondo ,Mark M Iles ,Jennifer H Barrett ,Lambertus A Kiemeney ,Nelleke A Gruis ,Christi J van Asperen ,Nienke van der Stoep

Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

原发性黑素细胞的细胞类型特异性 eQTL 有助于识别黑色素瘤易感基因

Tongwu Zhang #, Jiyeon Choi #, Michael A Kovacs, Jianxin Shi, Mai Xu; NISC Comparative Sequencing Program; Melanoma Meta-Analysis Consortium; Alisa M Goldstein, Adam J Trower, D Timothy Bishop, Mark M Iles, David L Duffy, Stuart MacGregor, Laufey T Amundadottir, Matthew H Law, Stacie K Loftus, Willi

A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF

PARP1 的常见内含子变体赋予黑色素瘤风险并通过调节 MITF 介导黑色素细胞生长

Jiyeon Choi, Mai Xu, Matthew M Makowski, Tongwu Zhang, Matthew H Law, Michael A Kovacs, Anton Granzhan, Wendy J Kim, Hemang Parikh, Michael Gartside, Jeffrey M Trent, Marie-Paule Teulade-Fichou, Mark M Iles, Julia A Newton-Bishop, D Timothy Bishop, Stuart MacGregor, Nicholas K Hayward, Michiel Verme

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

体脂百分比的新位点揭示了肥胖与心脏代谢疾病风险之间的联系

Yingchang Lu, Felix R Day, Stefan Gustafsson, Martin L Buchkovich, Jianbo Na, Veronique Bataille, Diana L Cousminer, Zari Dastani, Alexander W Drong, Tõnu Esko, David M Evans, Mario Falchi, Mary F Feitosa, Teresa Ferreira, Åsa K Hedman, Robin Haring, Pirro G Hysi, Mark M Iles, Anne E Justice, Stavro