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

A multiparametric anti-aging CRISPR screen uncovers a role for BAF in protein synthesis regulation

多参数抗衰老 CRISPR 筛选揭示了 BAF 在蛋白质合成调控中的作用

Sophia Y Breusegem, Jack Houghton, Raquel Romero-Bueno #, Adrián Fragoso-Luna #, Katherine A Kentistou, Ken K Ong, Anne F J Janssen, Nicholas A Bright, Christian G Riedel, John R B Perry, Peter Askjaer, Delphine Larrieu0

High-resolution functional mapping of RAD51C by saturation genome editing

利用饱和基因组编辑技术对 RAD51C 进行高分辨率功能定位

Rebeca Olvera-León,Fang Zhang,Victoria Offord,Yajie Zhao,Hong Kee Tan,Prashant Gupta,Tuya Pal,Carla Daniela Robles-Espinoza,Fernanda G Arriaga-González,Larissa Satiko Alcantara Sekimoto Matsuyama,Erwan Delage,Ed Dicks,Suzana Ezquina,Charlie F Rowlands,Clare Turnbull,Paul Pharoah,John R B Perry,Maria Jasin,Andrew J Waters,David J Adams

Loss of transient receptor potential channel 5 causes obesity and postpartum depression

瞬时受体电位通道5的缺失会导致肥胖和产后抑郁症。

Yongxiang Li ,Tessa M Cacciottolo ,Na Yin ,Yang He ,Hesong Liu ,Hailan Liu ,Yuxue Yang ,Elana Henning ,Julia M Keogh ,Katherine Lawler ,Edson Mendes de Oliveira ,Eugene J Gardner ,Katherine A Kentistou ,Panayiotis Laouris ,Rebecca Bounds ,Ken K Ong ,John R B Perry ,Inês Barroso ,Longlong Tu ,Jonathan C Bean ,Meng Yu ,Kristine M Conde ,Mengjie Wang ,Olivia Ginnard ,Xing Fang ,Lydia Tong ,Junying Han ,Tia Darwich ,Kevin W Williams ,Yongjie Yang ,Chunmei Wang ,Shelagh Joss ,Helen V Firth ,Yong Xu ,I Sadaf Farooqi

Saturation genome editing of BAP1 functionally classifies somatic and germline variants

BAP1的饱和基因组编辑可对体细胞和种系变异进行功能分类

Andrew J Waters,Timothy Brendler-Spaeth #,Danielle Smith #,Victoria Offord,Hong Kee Tan,Yajie Zhao,Sofia Obolenski,Maartje Nielsen,Remco van Doorn,Jo-Ellen Murphy,Prashant Gupta,Charlie F Rowlands,Helen Hanson,Erwan Delage,Mark Thomas,Elizabeth J Radford  ,Sebastian S Gerety,Clare Turnbull    ,John R B Perry,Matthew E Hurles,David J Adams

Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health

肝X受体α的有害突变具有肝毒性,并与肝脏健康中的胆固醇感知有关。

Sam M Lockhart # ,Milan Muso # ,Ilona Zvetkova ,Brian Y H Lam ,Alessandra Ferrari ,Erik Schoenmakers ,Katie Duckett ,Jack Leslie ,Amy Collins ,Beatriz Romartínez-Alonso ,John A Tadross ,Raina Jia ,Eugene J Gardner ,Katherine Kentistou ,Yajie Zhao ,Felix Day ,Alexander Mörseburg ,Kara Rainbow ,Debra Rimmington ,Matteo Mastantuoni ,James Harrison ,Meritxell Nus ,Khalid Guma'a ,Sam Sherratt-Mayhew ,Xiao Jiang ,Katherine R Smith ,Dirk S Paul ,Benjamin Jenkins ,Albert Koulman ,Maik Pietzner ,Claudia Langenberg ,Nicholas Wareham ,Giles S Yeo ,Krishna Chatterjee ,John Schwabe ,Fiona Oakley ,Derek A Mann ,Peter Tontonoz ,Anthony P Coll ,Ken Ong ,John R B Perry ,Stephen O'Rahilly

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction

QSOX2 缺陷引起的矮小、胃肠动力障碍和免疫功能障碍

Avinaash V Maharaj ,Miho Ishida ,Anna Rybak ,Reem Elfeky ,Afiya Andrews ,Aakash Joshi ,Frances Elmslie ,Anni Joensuu ,Katri Kantojärvi ,Raina Y Jia ,John R B Perry ,Edel A O'Toole ,Liam J McGuffin ,Vivian Hwa ,Helen L Storr

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

DDX3X 的饱和基因组编辑阐明了种系和体细胞变异的致病性

Elizabeth J Radford #,Hong-Kee Tan #,Malin H L Andersson,James D Stephenson,Eugene J Gardner,Holly Ironfield,Andrew J Waters,Daniel Gitterman,Sarah Lindsay,Federico Abascal,Iñigo Martincorena,Anna Kolesnik-Taylor,Elise Ng-Cordell,Helen V Firth,Kate Baker,John R B Perry,David J Adams,Sebastian S Gerety,Matthew E Hurles

The CD94/NKG2A inhibitory receptor educates uterine NK cells to optimize pregnancy outcomes in humans and mice

CD94/NKG2A抑制性受体可调控子宫NK细胞,从而优化人类和小鼠的妊娠结局。

Norman Shreeve ,Delphine Depierreux ,Delia Hawkes ,James A Traherne ,Ulla Sovio ,Oisin Huhn ,Jyothi Jayaraman ,Amir Horowitz ,Hormas Ghadially ,John R B Perry ,Ashley Moffett ,John G Sled ,Andrew M Sharkey ,Francesco Colucci

Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

性别二态遗传效应和空腹血糖和胰岛素变异的新基因座

Vasiliki Lagou #, Reedik Mägi #, Jouke- Jan Hottenga #, Harald Grallert, John R B Perry, Nabila Bouatia-Naji, Letizia Marullo, Denis Rybin, Rick Jansen, Josine L Min, Antigone S Dimas, Anna Ulrich, Liudmila Zudina, Jesper R Gådin, Longda Jiang, Alessia Faggian, Amélie Bonnefond, Joao Fadista, Maria

Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity

人类MC4R功能获得性变异体表现出信号传导偏向性并能预防肥胖

Luca A Lotta ,Jacek Mokrosiński ,Edson Mendes de Oliveira ,Chen Li ,Stephen J Sharp ,Jian'an Luan ,Bas Brouwers ,Vikram Ayinampudi ,Nicholas Bowker ,Nicola Kerrison ,Vasileios Kaimakis ,Diana Hoult ,Isobel D Stewart ,Eleanor Wheeler ,Felix R Day ,John R B Perry ,Claudia Langenberg ,Nicholas J Wareham ,I Sadaf Farooqi