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

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

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

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

Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY

NEUROD1 和 PDX1 中的罕见变异是 MODY 的低外显率病因,而 APPL1 和 WFS1 中的罕见变异与 MODY 无关。

Sriram, Aparajita; Wakeling, Matthew N; Hattersley, Andrew T; Weedon, Michael N; Colclough, Kevin; Laver, Thomas W; Patel, Kashyap A

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

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses

先天性高胰岛素血症和新型KDM6A重复——利用基因组和表观遗传分析解析其致病性

Männistö, Jonna M E; Hopkins, Jasmin J; Hewat, Thomas I; Nasser, Fatima; Burrage, Joseph; Dastamani, Antonia; Mirante, Alice; Murphy, Nuala; Rzasa, Jessica; Kerkhof, Jennifer; Relator, Raissa; Johnson, Matthew B; Laver, Thomas W; Weymouth, Luke; Houghton, Jayne A L; Wakeling, Matthew N; Sadikovic, Bekim; Dempster, Emma L; Flanagan, Sarah E

Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing

大拷贝数变异是先天性高胰岛素血症的重要病因,应在常规检查中进行筛查。

Flanagan, Sarah E; Lazaridi, Isabella-Anna; Männistö, Jonna M E; Bennett, Jasmin J; Kalyon, Oguzhan; Johnson, Matthew B; Wakeling, Matthew N; Houghton, Jayne A L; Laver, Thomas W