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

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

系统性基因治疗可挽救诺里氏病模型中的视网膜功能障碍和听力丧失

Valda Pauzuolyte, Aara Patel #, James R Wawrzynski #, Neil J Ingham #, Yeh Chwan Leong, Rajvinder Karda, Maria Bitner-Glindzicz, Wolfgang Berger, Simon N Waddington, Karen P Steel, Jane C Sowden

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

USH2A 相关疾病的临床和临床前治疗结果指标

Maria Toms, Adam M Dubis, Erik de Vrieze, Dhani Tracey-White, Andreas Mitsios, Matthew Hayes, Sanne Broekman, Sarah Baxendale, Nattawan Utoomprurkporn, Doris Bamiou, Maria Bitner-Glindzicz, Andrew R Webster, Erwin Van Wijk, Mariya Moosajee

Functional assessment of variants associated with Wolfram syndrome

Wolfram 综合征相关变异的功能评估

Melissa Riachi, Sebahat Yilmaz, Erdal Kurnaz, Zehra Aycan, Semra Çetinkaya, Lisbeth Tranebjærg, Nanna Dahl Rendtorff, Maria Bitner-Glindzicz, Detlef Bockenhauer, Khalid Hussain

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

SNX14 突变影响常染色体隐性脊髓小脑共济失调 20 中的内质网相关中性脂质代谢

Dale Bryant, Yang Liu, Sanchari Datta, Hanaa Hariri, Marian Seda, Glenn Anderson, Emma Peskett, Charalambos Demetriou, Sergio Sousa, Dagan Jenkins, Peter Clayton, Maria Bitner-Glindzicz, Gudrun E Moore, W Mike Henne, Philip Stanier

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

SALL2基因突变会导致人类和小鼠出现隐性眼部缺损。

Daniel Kelberman ,Lily Islam, Jörn Lakowski, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, Aara Patel, Elia Stupka, Anja Buck, Stephan Wolf, Philip L Beales, Thomas S Jacques, Maria Bitner-Glindzicz, Alki Liasis, Ordan J Lehmann, Jürgen Kohlhase, Ken K Nischal, Jane C Sowden

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts

KCNJ10 或 FOXI1 突变与 Pendred 综合征/前庭导水管扩张的 SLC26A4 突变之间缺乏显著关联

Priya Landa, Ann-Marie Differ, Kaukab Rajput, Lucy Jenkins, Maria Bitner-Glindzicz

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

凝集素补体途径基因 COLEC11 和 MASP1 突变导致 3MC 综合征

Caroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, Elyes Chabchoub, Victor Hernandez-Hernandez, Hanan Shamseldin, Joanna Kenny, Aoife Waters, Dagan Jenkins, Ali Al Kaissi, Gabriela F Leal, Bruno Dallapiccola, Franco Carnevale, Maria Bitner-Glindzicz, Melissa Lees, Raoul Hennekam, Philip Stanier, A

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

FOXRED1 编码一种 FAD 依赖性氧化还原酶复合物 I 特异性分子伴侣,在婴儿期发病的线粒体脑病中发生突变

Elisa Fassone, Andrew J Duncan, Jan-Willem Taanman, Alistair T Pagnamenta, Michael I Sadowski, Tatjana Holand, Waseem Qasim, Paul Rutland, Sarah E Calvo, Vamsi K Mootha, Maria Bitner-Glindzicz, Shamima Rahman

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

Sox2/SOX2 基因突变与小鼠和人类下丘脑-垂体-性腺轴异常有关

Daniel Kelberman, Karine Rizzoti, Ariel Avilion, Maria Bitner-Glindzicz, Stefano Cianfarani, Julie Collins, W Kling Chong, Jeremy M W Kirk, John C Achermann, Richard Ross, Danielle Carmignac, Robin Lovell-Badge, Iain C A F Robinson, Mehul T Dattani