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

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

HK1 中的非编码顺式调节变异可导致先天性高胰岛素血症,且病情严重程度各异

Jasmin J Bennett #, Cécile Saint-Martin #, Bianca Neumann #, Jonna M E Männistö #, Jayne A L Houghton, Susann Empting, Matthew B Johnson, Thomas W Laver, Jonathan M Locke, Benjamin Spurrier, Matthew N Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange; 

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

由于内质网应激增加,MANF 缺失导致儿童期综合征性糖尿病

Hossam Montaser, Kashyap A Patel, Diego Balboa, Hazem Ibrahim, Väinö Lithovius, Anna Näätänen, Vikash Chandra, Korcan Demir, Sezer Acar, Tawfeg Ben-Omran, Kevin Colclough, Jonathan M Locke, Matthew Wakeling, Maria Lindahl, Andrew T Hattersley, Jonna Saarimäki-Vire, Timo Otonkoski