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

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

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

Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility

纤毛功能基因的罕见破坏性突变导致睾丸易患癌

Kevin Litchfield, Max Levy, Darshna Dudakia, Paula Proszek, Claire Shipley, Sander Basten, Elizabeth Rapley, D Timothy Bishop, Alison Reid, Robert Huddart, Peter Broderick, David Gonzalez de Castro, Simon O'Connor, Rachel H Giles, Richard S Houlston, Clare Turnbull

Germline MC1R status influences somatic mutation burden in melanoma

种系 MC1R 状态影响黑色素瘤的体细胞突变负担

Carla Daniela Robles-Espinoza, Nicola D Roberts, Shuyang Chen, Finbarr P Leacy, Ludmil B Alexandrov, Natapol Pornputtapong, Ruth Halaban, Michael Krauthammer, Rutao Cui, D Timothy Bishop, David J Adams

Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans

细胞周期控制基因 CDKN2A 的功能丧失突变对人类葡萄糖稳态的影响

Aparna Pal, Thomas P Potjer, Soren K Thomsen, Hui Jin Ng, Amy Barrett, Raphael Scharfmann, Tim J James, D Timothy Bishop, Fredrik Karpe, Ian F Godsland, Hans F A Vasen, Julia Newton-Bishop, Hanno Pijl, Mark I McCarthy, Anna L Gloyn

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome

RHBDF2 突变与家族性食管癌综合征——侵袭性食管癌有关

Diana C Blaydon, Sarah L Etheridge, Janet M Risk, Hans-Christian Hennies, Laura J Gay, Rebecca Carroll, Vincent Plagnol, Fiona E McRonald, Howard P Stevens, Nigel K Spurr, D Timothy Bishop, Anthony Ellis, Janusz Jankowski, John K Field, Irene M Leigh, Andrew P South, David P Kelsell

MRE11 expression is predictive of cause-specific survival following radical radiotherapy for muscle-invasive bladder cancer

MRE11 表达可预测肌层浸润性膀胱癌根治性放射治疗后的病因特异性生存率

Ananya Choudhury, Louisa D Nelson, Mark T W Teo, Sameer Chilka, Selina Bhattarai, Colin F Johnston, Faye Elliott, Johanna Lowery, Claire F Taylor, Michael Churchman, Johanne Bentley, Margaret A Knowles, Patricia Harnden, Robert G Bristow, D Timothy Bishop, Anne E Kiltie

Vitamin D receptor gene polymorphisms, serum 25-hydroxyvitamin D levels, and melanoma: UK case-control comparisons and a meta-analysis of published VDR data

维生素D受体基因多态性、血清25-羟基维生素D水平与黑色素瘤:英国病例对照研究比较及已发表VDR数据的荟萃分析

Randerson-Moor, Juliette A; Taylor, John C; Elliott, Faye; Chang, Yu-Mei; Beswick, Samantha; Kukalizch, Kairen; Affleck, Paul; Leake, Susan; Haynes, Sue; Karpavicius, Birute; Marsden, Jerry; Gerry, Edwina; Bale, Linda; Bertram, Chandra; Field, Helen; Barth, Julian H; Silva, Isabel Dos Santos; Swerdlow, Anthony; Kanetsky, Peter A; Barrett, Jennifer H; Bishop, D Timothy; Bishop, Julia A Newton

A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)

黑色素瘤遗传学联盟(GenoMEL)内 CDKN2A 突变检测的比较

Harland, Mark; Goldstein, Alisa M; Kukalizch, Kairen; Taylor, Claire; Hogg, David; Puig, Susana; Badenas, Celia; Gruis, Nelleke; ter Huurne, Jeanet; Bergman, Wilma; Hayward, Nicholas K; Stark, Mitchell; Tsao, Hensin; Tucker, Margaret A; Landi, Maria Teresa; Scarra, Giovanna Bianchi; Ghiorzo, Paola; Kanetsky, Peter A; Elder, David; Mann, Graham J; Holland, Elizabeth A; Bishop, D Timothy; Bishop, Julia Newton