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

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Pyroxd1 对小鼠的生存至关重要,纯合 N155S 复发性变异与肌病、肌肉萎缩和骨质减少有关。

Evesson Frances J, Dziaduch Gregory, Yasa Joe, Best Heather A, Kiriaev Leonit, Pang Ignatius, Jones Vanessa, Kettle Emma, Zhang Katharine, Piper Ann-Katrin, Wark Jesse R, Scott Isaac, Joshi Himanshu, Sutton R Bryan, Tam Patrick P L, Houweling Peter J, Graham Mark E, Yuen Michaela, Lemcket Frances A, Cooper Sandra T

Excessive hypercholesterolemia in pregnancy impairs the cardiovascular health of the adult female and male offspring

妊娠期高胆固醇血症会损害成年女性和男性后代的心血管健康。

Graton, Murilo E; de Oliveira, Amanda A; Neupane, Aryan; Kirschenman, Raven; Quon, Anita; Spaans, Floor; Cooke, Christy-Lynn M; Davidge, Sandra T

A polygenic risk score derived from common variants of monogenic diabetes genes is associated with young-onset type 2 diabetes and cardiovascular-kidney complications

基于单基因糖尿病基因常见变异的多基因风险评分与早发性2型糖尿病和心血管肾脏并发症相关。

O, Chun-Kwan; Fan, Baoqi; Tsoi, Sandra T F; Tam, Claudia H T; Wan, Raymond; Lau, Eric S H; Shi, Mai; Lim, Cadmon K P; Yu, Gechang; Ho, Jane P Y; Chow, Elaine Y K; Kong, Alice P S; Ozaki, Risa; So, Wing Yee; Ma, Ronald C W; Luk, Andrea O Y; Chan, Juliana C N

Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy

专家就肢带型肌营养不良症患者的基因诊断方法达成共识

Straub, Volker; Clause, Amanda R; Donkervoort, Sandra; Kang, Peter B; Laverty, Chamindra G; Niu, Zhiyv; Wicklund, Matthew P; Bönnemann, Carsten G; Cooper, Sandra T; Díaz-Manera, Jordi; Johnson, Nicholas E; Narayanaswami, Pushpa; Vissing, John; Walter, Maggie C; Craige, Caryne; Weihl, Conrad C

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

先天性肌钙蛋白病:疾病谱中最严重阶段的全面特征描述

Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S; Griffin, Kaitlyn R; Jones, Kristi J; Vilain, Catheline N; Kadhim, Hazim; Bryen, Samantha J; Faiz, Fathimath; Waddell, Leigh B; Evesson, Frances J; Bakshi, Madhura; Pinner, Jason R; Charlton, Amanda; Brammah, Susan; Graf, Nicole S; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C; Illingworth, Marjorie A; Thomas, Neil H; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J; Splitt, Miranda P; Moldovan, Corina; de Silva, Deepthi C; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T; Laing, Nigel G; Raymond, F Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M; Ravenscroft, Gianina; Wilkins, Marc R; Cowley, Mark J; Pinese, Mark; Phadke, Rahul; Davis, Mark R; Muntoni, Francesco; Oates, Emily C

Effects of Dorzagliatin, a Glucokinase Activator, on α- and β-Cell Function in Individuals With Impaired and Normal Glucose Tolerance

多扎格列汀(一种葡萄糖激酶激活剂)对葡萄糖耐量受损和正常个体α细胞和β细胞功能的影响

Bai, Zhengli; Wang, Ke; Yau, Tiffany; Lim, Cadmon K P; Tsoi, Sandra T F; Fan, Baoqi; Tam, Claudia H T; Poon, Emily W M; Luk, Andrea O Y; Kong, Alice P S; Ma, Ronald C W; Ferrannini, Ele; Mari, Andrea; Chen, Li; Chan, Juliana C N; Chow, Elaine

Development of a Chinese-Specific Clinical Model to Predict Maturity-Onset Diabetes of the Young

开发一种针对中国人群的临床模型来预测青少年成人发病型糖尿病

Tsoi, Sandra T F; Lim, Cadmon K P; Ma, Ronald C W; Lau, Eric S H; Fan, Baoqi; O, Chun Kwan; Fan, Yingnan; Chow, Elaine; Kong, Alice P S; So, Wing-Yee; Chan, Juliana C N; Luk, Andrea O Y

Excessive Hypercholesterolemia in Pregnancy Impairs Later-Life Maternal Vascular Function in Rats

妊娠期高胆固醇血症会损害大鼠成年后的母体血管功能

de Oliveira, Amanda A; Elder, Emma; Graton, Murilo E; Spaans, Floor; Wooldridge, Amy L; Quon, Anita; Kirschenman, Raven; Cooke, Christy-Lynn M; Davidge, Sandra T

Environmental enrichment with nylon gnaw sticks introduces variation in Sprague Dawley rat immune and lower gastrointestinal parameters with differences between sexes.

用尼龙啃咬棒丰富环境,可以改变 Sprague Dawley 大鼠的免疫和下消化道参数,并造成性别差异

Wulczynski Mark, Brooks Stephen P J, Green Judy, Matias Fernando, Kalmokoff Martin, Green-Johnson Julia M, Clarke Sandra T

Impact of excessive hypercholesterolemia in pregnancy on the placentas of the male and female offspring

妊娠期高胆固醇血症对男女子代胎盘的影响

de Oliveira, Amanda A; Stokes, Angie; Quon, Anita; Graton, Murilo E; Spaans, Floor; Cooke, Christy-Lynn M; Davidge, Sandra T