Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA by Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina, Cristiana Stuani, Emanuele Buratti, Andrea Dardis

Get full text

Multi-Omics Insights into Regulatory Mechanisms Underlying Differential Deposition of Intramuscular and Abdominal Fat in Chickens by Yuxin Xing, Chenglin Ma, Hongbo Guan, Jianing Shen, Ying Shen, Guoxi Li, Guirong Sun, Yadong Tian, Xiangtao Kang, Xiaojun Liu, Hong Li, Weihua Tian

“…This review systematically summarizes the regulatory mechanisms underlying intramuscular and abdominal fat traits at chromatin, genomic, transcriptional, post-transcriptional, translational, and epigenetic-modification scales. …”
Get full text

Gene function revealed at the moment of stochastic gene silencing by Shreyan Gupta, James J. Cai

“…Abstract Gene expression is a dynamic and stochastic process characterized by transcriptional bursting followed by periods of silence. …”
Get full text

Alternative Splicing in Self-Renewal of Embryonic Stem Cells by Clara Y. Cheong, Thomas Lufkin

“…Much of embryonic stem cell biology has focused on transcriptional expression and regulation of genes that could mediate its unique potential in self-renewal or pluripotency. …”
Get full text

CDC40 suppression induces CDCA5 splicing defects and anti-proliferative effects in lung cancer cells by Die Hu, Brigitte L. Thériault, Vida Talebian, Laurent Hoffer, Julie Owen, Justin Lim, Benjamin J. Blencowe, Evelyne Lima-Fernandes, Punit Saraon, Richard Marcellus, Rima Al-awar

“…Data mining of whole-genome genetic dependency screens suggest Cell Division Cycle 40 (CDC40) to be an essential protein for lung cancer cell survival. …”
Get full text

The Potential of Single-Chain Variable Fragment Antibody: Role in Future Therapeutic and Diagnostic Biologics by Getachew Gezehagn Kussia, Tesfaye Sisay Tessema

“…Genes of variable regions, the heavy and light chains that are genetically linked into a single transcript by a short flexible linker peptide, are used to generate this fragment from cellular and synthetic libraries. …”
Get full text

RNA methylation in neurodevelopment and related diseases by Xia Wenjuan, Liu Yue, Lu Jiafeng, Cheung Hoi-Hung, Meng Qingxia, Huang Boxian

“…Biological development and genetic information transfer are governed by genetic, epigenetic, transcriptional, and posttranscriptional mechanisms. …”
Get full text

Hepatitis B Virus-KMT2B Integration Drives Hepatic Oncogenic Processes in a Human Gene-edited Induced Pluripotent Stem Cells-derived ModelSummary by Jun Tsuchiya, Masato Miyoshi, Sei Kakinuma, Fukiko Kawai-Kitahata, Akihide Kamiya, Taro Shimizu, Ayako Sato, Keiya Watakabe, Tomohiro Mochida, Kento Inada, Rion Kamimae, Shun Kaneko, Miyako Murakawa, Sayuri Nitta, Mina Nakagawa, Mamoru Watanabe, Yasuhiro Asahina, Ryuichi Okamoto

“…Methods: Based on the genetic information on HBV-KMT2B integration in HCC, we determined its complete DNA sequence and transcript variants. …”
Get full text

Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease by Lauren G. Russell, Maria Kolatsi‐Joannou, Laura Wilson, Jennifer C. Chandler, Nuria Perretta Tejedor, Georgie Stagg, Karen L. Price, Christopher J. Rowan, Tessa Crompton, Norman D. Rosenblum, Paul J. D. Winyard, David A. Long

“…Abstract Polycystic kidney diseases (PKD) are genetic disorders which disrupt kidney architecture and function. …”
Get full text

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays by Cristina Fortuno, Inés Llinares-Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco-Sampedro, Amanda B. Spurdle

Get full text

A short ncRNA modulates gene expression and affects stress response and parasite differentiation in Leishmania braziliensis by José C. Quilles, Caroline R. Espada, Lissur A. Orsine, Tânia A. Defina, Letícia Almeida, Fabíola Holetz, Angela K. Cruz

“…Apart from its medical relevance, this organism has a genetic organization that is unique among eukaryotes. …”
Get full text

The promising role of nanopore sequencing in cancer diagnostics and treatment by Xinming Su, Qingyuan Lin, Bin Liu, Chuntao Zhou, Liuyi Lu, Zihao Lin, Jiahua Si, Yuemin Ding, Shiwei Duan

“…Cancer arises from genetic alterations that impact both the genome and transcriptome. …”
Get full text

AMPK regulates the maintenance and remodelling of the neuromuscular junction by Sean Y. Ng, Andrew I. Mikhail, Stephanie R. Mattina, Salah A. Mohammed, Shahzeb K. Khan, Eric M. Desjardins, Changhyun Lim, Stuart M. Phillips, Gregory R. Steinberg, Vladimir Ljubicic

“…Results: Our findings reveal an increased abundance of AMPK transcripts within the NMJ and an age-associated decline in AMPK activity and synapse-specific mitochondrial gene expression. …”
Get full text

Single-cell transcriptomes reveal spatiotemporal heat stress response in maize roots by Ting Wang, Fanhua Wang, Shuhan Deng, Kailai Wang, Dan Feng, Fan Xu, Weijun Guo, Jia Yu, Yue Wu, Hada Wuriyanghan, Shang-Tong Li, Xiaofeng Gu, Liang Le, Li Pu

“…Here, we generate single-cell transcriptional landscape of maize (Zea mays) roots in response to HS. …”
Get full text

Fluorescently Labeled Adenovirus with pIX-EGFP for Vector Detection by Long P. Le, Maaike Everts, Igor P. Dmitriev, Julia G. Davydova, Masato Yamamoto, David T. Curiel

“…These vectors have been targeted on both transcriptional and transductional levels to achieve cell-specific gene delivery. …”
Get full text

Impact of trace metal supplementation on anaerobic biological methanation under hydrogen and carbon dioxide starvation by G. Ghiotto, N. De Bernardini, E. Orellana, G. Fiorito, L. Cenci, P. G. Kougias, S. Campanaro, L. Treu

“…Dominant Methanothermobacter thermautotrophicus demonstrated robust growth, genetic stability and transcriptional downregulation when starved. …”
Get full text

Transcriptome analysis provides insights into the role of TLP16 in Musa acuminata Resistance to Fusarium oxysporum f. sp. cubense wilt by Yi-le Huo, Si-wen Liu, Huo-qing Huang, Zai-yuan Li, Mudassar Ahmad, Meng-xia Zhuo, Wen-juan Chen, Chun-yu Li, Bo Liu, Ya-dong Li

Get full text

Genomic Variability among Field Isolates and Laboratory-Adapted Strains of Leptospira borgpetersenii Serovar Hardjo by Alejandro Llanes, Carlos Mario Restrepo, Pablo Riesgo-Ferreiro, Sreekumari Rajeev

“…In contrast, several differences regarding gene content and genetic variants were observed between the two subtypes. …”
Get full text

Molecular logic for cellular specializations that initiate the auditory parallel processing pathways by Junzhan Jing, Ming Hu, Tenzin Ngodup, Qianqian Ma, Shu-Ning Natalie Lau, M. Cecilia Ljungberg, Matthew J. McGinley, Laurence O. Trussell, Xiaolong Jiang

“…By combining single-nucleus RNA sequencing and Patch-seq analysis, we reveal a set of transcriptionally distinct cell populations encompassing all previously observed types and discover multiple hitherto unknown subtypes with anatomical and physiological identity. …”
Get full text

Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays by Fuying Chen, Ruoqu Wei, Yumeng Wang, Qiaoyu Cao, Jianbo Wang, Chenfei Wang, Dingjin Yao, Zhirong Yao, Cheng Ni, Ming Li

“…We enrolled 69 cases of recessive JEB, with 13.0% of these cases remained genetically undiagnosed following an initial exome sequencing. …”
Get full text