1. Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model. Issue 10 (9th December 2021) Authors: Wang, Jia; Bai, Jinli; OuYang, Shijia; Wang, Hong; Jin, Yuwei; Peng, Xiaoyin; Ge, Xiushan; Jiao, Hui; Zou, Jizhen; He, Cai; Xiao, Ping; Song, Fang; Qu, Yujin Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1635 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Canine DUXC: implications for DUX4 retrotransposition and preclinical models of FSHD. Issue 10 (9th December 2021) Authors: Wong, Chao-Jen; Whiddon, Jennifer L; Langford, Ashlee T; Belleville, Andrea E; Tapscott, Stephen J Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1694 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Development and validation of prognostic and diagnostic model for pancreatic ductal adenocarcinoma based on scRNA-seq and bulk-seq datasets. Issue 10 (20th November 2021) Authors: Chen, Kai; Liu, Xinxin; Liu, Weikang; Wang, Feng; Tian, Xiaodong; Yang, Yinmo Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1705 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Disease-associated c-MYC downregulation in human disorders of transcriptional regulation. Issue 10 (29th November 2021) Authors: Pallotta, Maria M; Di Nardo, Maddalena; Sarogni, Patrizia; Krantz, Ian D; Musio, Antonio Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1599 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dysregulated mitochondrial and cytosolic tRNA m1A methylation in Alzheimer's disease. Issue 10 (13th December 2021) Authors: Shafik, Andrew M; Zhou, Huiqing; Lim, Junghwa; Dickinson, Bryan; Jin, Peng Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1673 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome. Issue 10 (9th December 2021) Authors: Zhou, Zhuang; Qiu, Hantian; Castro-Araya, Roiner-Francisco; Takei, Ryota; Nakayama, Kazuhisa; Katoh, Yohei Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1681 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Interaction of huntingtin with PRMTs and its subsequent arginine methylation affects HTT solubility, phase transition behavior and neuronal toxicity. Issue 10 (9th December 2021) Authors: Ratovitski, Tamara; Jiang, Mali; O'Meally, Robert N; Rauniyar, Priyanka; Chighladze, Ekaterine; Faragó, Anikó; Kamath, Siddhi V; Jin, Jing; Shevelkin, Alexey V; Cole, Robert N; Ross, Christopher A Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1651 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans. Issue 10 (20th November 2021) Authors: Lange, Karen I; Best, Sunayna; Tsiropoulou, Sofia; Berry, Ian; Johnson, Colin A; Blacque, Oliver E Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1574 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Investigation of the causal relationships between human IgG N-glycosylation and 12 common diseases associated with changes in the IgG N-glycome. Issue 10 (15th November 2021) Authors: Zaytseva, Olga O; Sharapov, Sodbo Zh; Perola, Marcus; Esko, Tonu; Landini, Arianna; Hayward, Caroline; Wilson, James F; Lauc, Gordan; Aulchenko, Yurii S; Klarić, Lucija; Tsepilov, Yakov A Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1545 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Metformin induces lactate accumulation and accelerates renal cyst progression in Pkd1-deficient mice. Issue 10 (19th November 2021) Authors: Chang, Ming-Yang; Tsai, Chung-Ying; Chou, Li-Fang; Hsu, Shen-Hsing; Yang, Huang-Yu; Hung, Cheng-Chieh; Tian, Ya-Chung; Ong, Albert C M; Yang, Chih-Wei Journal: Human molecular genetics Issue: Volume 31:Issue 10(2022) Page Start: 1560 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗