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

GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification

对 476,326 名个体的随机血糖进行 GWAS 研究,深入了解糖尿病病理生理学、并发症和治疗分层

Vasiliki Lagou #, Longda Jiang #, Anna Ulrich #, Liudmila Zudina, Karla Sofia Gutiérrez González, Zhanna Balkhiyarova, Alessia Faggian, Jared G Maina, Shiqian Chen, Petar V Todorov, Sodbo Sharapov, Alessia David, Letizia Marullo, Reedik Mägi, Roxana-Maria Rujan, Emma Ahlqvist, Gudmar Thorleifsson, Η

Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production

醛固酮腺瘤中 CADM1 的体细胞突变和间隙连接依赖性醛固酮生成的调节

Xilin Wu, Elena A B Azizan #, Emily Goodchild #, Sumedha Garg #, Man Hagiyama #, Claudia P Cabrera #, Fabio L Fernandes-Rosa #, Sheerazed Boulkroun #, Jyn Ling Kuan, Zenia Tiang, Alessia David, Masanori Murakami, Charles A Mein, Eva Wozniak, Wanfeng Zhao, Alison Marker, Folma Buss, Rebecca S Saleeb,

A common TMPRSS2 variant has a protective effect against severe COVID-19

一种常见的 TMPRSS2 变体对重症 COVID-19 具有保护作用

Alessia David, Nicholas Parkinson, Thomas P Peacock, Erola Pairo-Castineira, Tarun Khanna, Aurelie Cobat, Albert Tenesa, Vanessa Sancho-Shimizu; GenOMICC Consortium; ISARIC4C Investigators; Jean-Laurent Casanova, Laurent Abel, Wendy S Barclay, J Kenneth Baillie, Michael Je Sternberg

Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty

全外显子组测序鉴定出 CCDC141 中与家族性自限性青春期延迟有关的有害罕见变异

Tansit Saengkaew, Gerard Ruiz-Babot, Alessia David, Alessandra Mancini, Katia Mariniello, Claudia P Cabrera, Michael R Barnes, Leo Dunkel, Leonardo Guasti, Sasha R Howard

LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling

LGR4 缺乏通过损害 Wnt/β-catenin 信号传导导致青春期延迟

Alessandra Mancini, Sasha R Howard, Federica Marelli, Claudia P Cabrera, Michael R Barnes, Michael Je Sternberg, Morgane Leprovots, Irene Hadjidemetriou, Elena Monti, Alessia David, Karoliina Wehkalampi, Roberto Oleari, Antonella Lettieri, Valeria Vezzoli, Gilbert Vassart, Anna Cariboni, Marco Bonom

Ligand-Specific Factors Influencing GLP-1 Receptor Post-Endocytic Trafficking and Degradation in Pancreatic Beta Cells

影响胰腺β细胞中GLP-1受体内吞后运输和降解的配体特异性因素

Zijian Fang, Shiqian Chen, Yusman Manchanda, Stavroula Bitsi, Philip Pickford, Alessia David, Maria M Shchepinova, Ivan R Corrêa Jr, David J Hodson, Johannes Broichhagen, Edward W Tate, Frank Reimann, Victoria Salem, Guy A Rutter, Tricia Tan, Stephen R Bloom, Alejandra Tomas, Ben Jones

EAP1 regulation of GnRH promoter activity is important for human pubertal timing

EAP1 调节 GnRH 启动子活性对人类青春期时间很重要

Alessandra Mancini, Sasha R Howard, Claudia P Cabrera, Michael R Barnes, Alessia David, Karoliina Wehkalampi, Sabine Heger, Alejandro Lomniczi, Leonardo Guasti, Sergio R Ojeda, Leo Dunkel

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism

AIP 中的七个氨基酸重复出现于过去的 3000 年里,破坏了蛋白质的相互作用和稳定性,并与巨人症有关

Roberto Salvatori, Serban Radian, Yoan Diekmann, Donato Iacovazzo, Alessia David, Plamena Gabrovska, Giorgia Grassi, Anna-Marie Bussell, Karen Stals, Astrid Weber, Richard Quinton, Elizabeth C Crowne, Valentina Corazzini, Lou Metherell, Tara Kearney, Daniel Du Plessis, Ajay Kumar Sinha, Atik Baborie

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

新型显性负性 GH 受体突变扩大了 GHI 和 IGF-I 缺乏症的范围

Kanimozhi Vairamani, Lina Merjaneh, Paula Casano-Sancho, Merve Emecen Sanli, Alessia David, Louise A Metherell, Martin O Savage, Jaime Sánchez Del Pozo, Philippe F Backeljauw, Ron G Rosenfeld, Javier Aisenberg, Andrew Dauber, Vivian Hwa

IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty

IGSF10 突变导致促性腺激素释放激素神经元迁移失调,从而导致青春期延迟

Sasha R Howard, Leonardo Guasti, Gerard Ruiz-Babot, Alessandra Mancini, Alessia David, Helen L Storr, Lousie A Metherell, Michael Je Sternberg, Claudia P Cabrera, Helen R Warren, Michael R Barnes, Richard Quinton, Nicolas de Roux, Jacques Young, Anne Guiochon-Mantel, Karoliina Wehkalampi, Valentina