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

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

对 44,028 名具有高纯合性的英国南亚裔人群进行外显子组测序和分析

Kim, Hye In; DeBoever, Christopher; Walter, Klaudia; Kalantzis, Georgios; Li, Chen; Mozaffari, Sahar V; Kundu, Kousik; Jacobs, Benjamin M; Mohammadi-Shemirani, Pedrum; Musolf, Anthony M; Davitte, Jonathan M; Aksit, Melis A; Gafton, Joseph; Catalano, Katrina A; Dawed, Adem Y; Graham, Robert R; Guo, Bin; Gupta, Namrata; Heng, Teng Hiang; Hunt, Karen A; Iyer, Vivek; Langenberg, Claudia; Lassen, Frederik H; MacArthur, Daniel G; Maher, Eamonn R; Maroteau, Cyrielle; Newman, William G; O'Rahilly, Stephen; Palmer, Duncan S; Popov, Iaroslav; Siddiqui, Moneeza K; Simpson, Michael A; Spreckley, Marie; Wright, John; Del Angel, Guillermo; Petrovski, Slavé; Holzinger, Emily R; Maranville, Joseph C; Addis, Laura; Turner, Richard M; Estrada, Karol; Longerich, Simone; Howson, Joanna M M; Jamshidi, Yalda; Fauman, Eric B; Miller, Melissa R; Diogo, Dorothée; Trembath, Richard C; Finer, Sarah; Martin, Hilary C; van Heel, David A

Cross-species studies implicate the melanocortin 3 receptor more strongly in the control of pubertal development than energy balance

跨物种研究表明,黑皮质素3受体在青春期发育调控中的作用比能量平衡更强。

Duckett, Katie; McClellan, Alyce; Corbin, Laura J; Cimino, Irene; Elhakeem, Ahmed; Goncalves Soares, Ana; Williamson, Alice; Cross, Eloise; Fairhurst-Hunter, Zammy; Petrovski, Slavé; Rimmington, Debra; Alegre-Díaz, Jesús; Berumen, Jaime; Kuri-Morales, Pablo; Tapia-Conyer, Roberto; Mokrosinski, Jacek; Farooqi, I Sadaf; Rasheed, Asif; Saleheen, Danish; Butterworth, Adam S; Timpson, Nicholas J; Coll, Anthony P; Raffan, Eleanor; Lam, Brian Y H; O'Rahilly, Stephen

Marked Increases in Continuous Glucose Monitor-Detected Hypoglycemia During a Seven-Day Water-Only Fast in Healthy Men and Women

健康男女在为期七天的纯水禁食期间,持续血糖监测仪检测到的低血糖症显著增加

Kolnes, Kristoffer J; Turner, Lauren V; Brufladt, Steffen; Nilsen, Emelie T F; Kolnes, Anders J; O'Rahilly, Stephen; Jensen, Jørgen; Riddell, Michael C

The inverse association between circulatory placental biomarkers in early pregnancy and maternal body mass index

妊娠早期循环胎盘生物标志物与孕妇体重指数呈负相关

Atta, Nooria; Pike, Cleo; Wishlade, Tabitha; Sovio, Ulla; Petry, Clive J; Lockhart, Sam; Ong, Ken K; Hughes, Ieuan A; Goodburn, Sandra F; Smith, Gordon; Aiken, Catherine; O'Rahilly, Stephen

Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health

基于全基因组测序的群体规模基因分析能够深入了解代谢健康。

Zhao, Yajie; Lockhart, Sam; Liu, Jimmy; Li, Xihao; Cortes, Adrian; Hua, Xing; Gardner, Eugene J; Kentistou, Katherine A; Cañadas-Garre, Marisa; Fabian, Laurie; Ho, Karen; Timpson, Nicholas; Lo, Yancy; Davitte, Jonathan; Savage, David B; Buser-Doepner, Carolyn; Ong, Ken K; Zhang, Haoyu; Scott, Robert; O'Rahilly, Stephen; Perry, John R B

Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling

罕见变异与出生体重的关联揭示了参与脂肪组织调节、胎盘功能和胰岛素样生长因子信号传导的基因。

Kentistou, Katherine A; Lim, Brandon E M; Kaisinger, Lena R; Steinthorsdottir, Valgerdur; Sharp, Luke N; Patel, Kashyap A; Tragante, Vinicius; Hawkes, Gareth; Gardner, Eugene J; Olafsdottir, Thorhildur; Wood, Andrew R; Zhao, Yajie; Thorleifsson, Gudmar; Day, Felix R; Ozanne, Susan E; Hattersley, Andrew T; O'Rahilly, Stephen; Stefansson, Kari; Ong, Ken K; Beaumont, Robin N; Perry, John R B; Freathy, Rachel M

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome

SREK1基因的双等位基因变异导致SNORD115和SNORD116表达下调,从而引起类似普拉德-威利综合征的症状。

Saeed, Sadia; Siegert, Anna-Maria; Tung, Y C Loraine; Khanam, Roohia; Janjua, Qasim M; Manzoor, Jaida; Derhourhi, Mehdi; Toussaint, Bénédicte; Lam, Brian Yh; Mahmoud, Sherine Awad; Vaillant, Emmanuel; Buse Falay, Emmanuel; Amanzougarene, Souhila; Ayesha, Hina; Khan, Waqas I; Ramazan, Nosheen; Saudek, Vladimir; O'Rahilly, Stephen; Goldstone, Anthony P; Arslan, Muhammad; Bonnefond, Amélie; Froguel, Philippe; Yeo, Giles Sh

Bidirectional Mendelian Randomization Indicates Causal Relationships Between Circulating Branched-Chain Amino Acids and Metabolic Health

双向孟德尔随机化表明循环支链氨基酸与代谢健康之间存在因果关系

Jia, Raina Y; Chen, Jian-Hua; Lockhart, Sam; Lam, Brian Y H; Kentistou, Katherine A; Zhao, Yajie; Gardner, Eugene J; Perry, John R B; O'Rahilly, Stephen; Day, Felix R; Ong, Ken K

Elevated plasma GDF15 combined with FGF21 suggests mitochondrial dysfunction in a subgroup of anorexia nervosa patients.

血浆中 GDF15 和 FGF21 水平升高提示部分神经性厌食症患者存在线粒体功能障碍

Xu Jingjing, Zhang Ruyue, Millischer Vincent, Stiernborg Miranda, Tume Claire E, Mehdinia Sara, Barker Peter, Yilmaz Zeynep, Gonçalves Vanessa F, Lavebratt Catharina, Landén Mikael, O'Rahilly Stephen, Bulik Cynthia M, Nilsson Ida Ak

Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors

HTRA1、SGTB 和 RBM12 中的罕见变异会增加动脉粥样硬化性心血管疾病的风险,且这种风险独立于传统心血管危险因素。

Lockhart, Sam M; Puri, Anuradhika; Zhao, Yajie; Saudek, Vladimir; Gardner, Eugene J; Kentistou, Katherine A; Lam, Brian Y H; Day, Felix R; O'Rahilly, Stephen; Perry, John R B; Ong, Ken K; Jackrel, Meredith E