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

Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts

斑马鱼 U8 snoRNA 变异分析揭示双等位基因变异如何导致伴有钙化和囊肿的白质脑病

Andrew P Badrock, Carolina Uggenti, Ludivine Wacheul, Siobhan Crilly, Emma M Jenkinson, Gillian I Rice, Paul R Kasher, Denis L J Lafontaine, Yanick J Crow, Raymond T O'Keefe

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

SNORD118 突变导致伴有钙化和囊肿的脑微血管病白质脑病

Emma M Jenkinson, Mathieu P Rodero, Paul R Kasher, Carolina Uggenti, Anthony Oojageer, Laurence C Goosey, Yoann Rose, Christopher J Kershaw, Jill E Urquhart, Simon G Williams, Sanjeev S Bhaskar, James O'Sullivan, Gabriela M Baerlocher, Monika Haubitz, Geraldine Aubert, Kristin W Barañano, Angela J B

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

IFIH1 的功能获得性突变可导致一系列与 I 型干扰素信号上调相关的人类疾病表型

Gillian I Rice #, Yoandris Del Toro Duany #, Emma M Jenkinson, Gabriella Ma Forte, Beverley H Anderson, Giada Ariaudo, Brigitte Bader-Meunier, Eileen M Baildam, Roberta Battini, Michael W Beresford, Manuela Casarano, Mondher Chouchane, Rolando Cimaz, Abigail E Collins, Nuno Jv Cordeiro, Russell C Da

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

Perrault 综合征是由 CLPP 的隐性突变引起的,该基因编码一种线粒体 ATP 依赖性腔内蛋白酶

Emma M Jenkinson, Atteeq U Rehman, Tom Walsh, Jill Clayton-Smith, Kwanghyuk Lee, Robert J Morell, Meghan C Drummond, Shaheen N Khan, Muhammad Asif Naeem, Bushra Rauf, Neil Billington, Julie M Schultz, Jill E Urquhart, Ming K Lee, Andrew Berry, Neil A Hanley, Sarju Mehta, Deirdre Cilliers, Peter E Cl

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

ADAR1 突变导致与 I 型干扰素特征相关的 Aicardi-Goutières 综合征

Gillian I Rice, Paul R Kasher, Gabriella M A Forte, Niamh M Mannion, Sam M Greenwood, Marcin Szynkiewicz, Jonathan E Dickerson, Sanjeev S Bhaskar, Massimiliano Zampini, Tracy A Briggs, Emma M Jenkinson, Carlos A Bacino, Roberta Battini, Enrico Bertini, Paul A Brogan, Louise A Brueton, Marialuisa Car