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

Loss of function variants in the primate-specific gene ZNF808 cause neonatal, transient and adult-onset diabetes

灵长类特异性基因 ZNF808 的功能缺失变异会导致新生儿糖尿病、暂时性糖尿病和成人发病型糖尿病。

Russ-Silsby, James; Colclough, Kevin; Johnson, Matthew B; Wakeling, Matthew N; Owens, Nick D L; Amaratunga, Shenali A; Flanagan, Sarah E; Patel, Kashyap A; Hattersley, Andrew T; De Franco, Elisa

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY

对 MODY 基因中功能缺失变异的系统分析表明,这些变异具有基因特异性效应,并扩展了导致 MODY 的 INS 变异谱。

Laver, Thomas W; Sriram, Aparajita; Wakeling, Matthew N; Şiklar, Zeynep; Kobaisi, Farah; Kalyon, Oguzhan; Hattersley, Andrew T; Weedon, Michael N; Flanagan, Sarah E; De Franco, Elisa; Colclough, Kevin; Patel, Kashyap A

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes

非蛋白质编码的次要剪接体组分 RNU6ATAC 和 RNU4ATAC 的双等位基因变异会导致综合征型单基因自身免疫性糖尿病

Johnson, Matthew B; Russ-Silsby, James; Blair, Paul A; Govier, Molly; Bonfield, Georgia; Domingo-Vila, Clara; Wakeling, Matthew N; Oram, Richard A; Flanagan, Sarah E; Tree, Timothy I M; Patel, Kashyap A; Hattersley, Andrew T; De Franco, Elisa

Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes

IL2RA基因的双等位致病变异导致新生儿期发病的单基因自身免疫性糖尿病

Bonfield, Georgia; Russ-Silsby, James; Ramchand, Suraj; Luckett, Amber M; Wakeling, Matthew N; Kulkarni, Abhishek; Nagesh, V Sri; Deeb, Asma; Ravikumar, K G; Nguyen, Phuong T K; Hattersley, Andrew T; Oram, Richard A; Flanagan, Sarah E; De Franco, Elisa; Johnson, Matthew B

Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity

苏丹儿童单基因糖尿病的特征:来自近亲结婚率较高人群的多中心经验

Hassan, Samar S; Musa, Salwa A; De Franco, Elisa; Myers, Rebbeca; Van Heugten, Racheal; Babiker, Omer O; Ibrahim, Areej A; MohamadSalih, Ghassan F; Ahmed, Amna; Shatta, Jouyriah A; Al-Hassan, Olivia A; Patel, Kashyap A; Abdullah, Mohamed A

Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome

TMEM167A隐性变异会导致新生儿糖尿病、小头畸形和癫痫综合征。

Virgilio, Enrico; Tielens, Sylvia; Bonfield, Georgia; Nian, Fang-Shin; Sawatani, Toshiaki; Vinci, Chiara; Govier, Molly; Montaser, Hossam; Lartigue, Romane; Arunagiri, Anoop; Liboz, Alexandrine; Da Silva, Flavia Natividade; Lytrivi, Maria; Papadopoulou, Theodora; Wakeling, Matthew N; Russ-Silsby, James; Bowman, Pamela; Johnson, Matthew B; Laver, Thomas W; Piron, Anthony; Yi, Xiaoyan; Fantuzzi, Federica; Hendrickx, Sirine; Igoillo-Esteve, Mariana; Santacreu, Bruno J; Suntharesan, Jananie; Ghildiyal, Radha; Hegde, Darshan; Shah, Nikhil; Acar, Sezer; Dönmez, Beyhan Özkaya; Özkan, Behzat; Mohsin, Fauzia; Talaat, Iman M; Abbas, Mohamed Tarek; Abbas, Omar Tarek; Alghamdi, Hamed Ali; Kandemir, Nurgun; Flanagan, Sarah E; Scharfmann, Raphael; Arvan, Peter; Raoux, Matthieu; Nguyen, Laurent; Hattersley, Andrew T; Cnop, Miriam; De Franco, Elisa

Global perspectives on monogenic forms of diabetes

全球视角下的单基因糖尿病

Russ-Silsby, James; Teles, Milena; Hassan, Samar S; Elbarbary, Nancy S; Ngọc, Cấn Thị Bích; De Franco, Elisa

Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes

1型糖尿病遗传风险导致单基因自身免疫性糖尿病的表型表现

Luckett, Amber M; Hawkes, Gareth; Green, Harry D; De Franco, Elisa; Hagopian, William A; Roep, Bart O; Weedon, Michael N; Oram, Richard A; Johnson, Matthew B

Complete loss of PAX4 causes transient neonatal diabetes in humans.

PAX4 完全缺失会导致人类出现短暂性新生儿糖尿病

Russ-Silsby James, Lee Yunkyeong, Rajesh Varsha, Amoli Mahsa, Mirhosseini Nasser Ali, Godbole Tushar, Johnson Matthew B, Ibarra D Evelyn, Sun Han, Krentz Nicole A J, Wakeling Matthew N, Flanagan Sarah E, Hattersley Andrew T, Gloyn Anna L, De Franco Elisa

A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes

TARS2纯合变异是综合征型新生儿糖尿病的一种新病因

Donis, Russell; Patel, Kashyap A; Wakeling, Matthew N; Johnson, Matthew B; Amoli, Masha M; Yildiz, Melek; Akçay, Teoman; Aspi, Irani; Yong, James; Yaghootkar, Hanieh; Weedon, Michael N; Hattersley, Andrew T; Flanagan, Sarah E; De Franco, Elisa