Results 191 to 200 of about 152,197 (251)

Characterization of <i>OsNrx3i1</i>, the first intron of rice <i>OsNrx3</i> gene, as a candidate intron-mediated enhancement element for synthetic promoter engineering. [PDF]

Synth Syst Biotechnol
Liu M, Gong C, Zhang J, Lin Y, Zhou F.
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Corrigendum: A Role of U12 Intron in Proper Pre-mRNA Splicing of Plant Cap Binding Protein 20 Genes

Frontiers in Plant Science, 2019
Marcin Pieczynski, Katarzyna Kruszka, Dawid Bielewicz, Jakub Dolata, Michal Szczesniak, Wojciech Karlowski, Artur Jarmolowski, Zofia Szweykowska-Kulinska   +7 more
doaj   +1 more source

Dynamics of intronic polyadenylation in the hematopoietic lineage and its regulation by DNA methylation. [PDF]

Genome Res
Rashmi R, Muruganandham A, Borkar P, Mallick S, Hubbs T, Aviles A, Chung D, Singh I.   +7 more
europepmc   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

Expression Profiles, Biological Functions and Clinical Significance of Circular RNAs in Inflammatory Bowel Disease. [PDF]

J Inflamm Res
Liu Z, Liu M, Long X, Wu M, Xu X.
europepmc   +1 more source

The mitochondrial DNA copy number and ovary‐related reproductive disorders: A bidirectional two‐sample Mendelian randomization study

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 112-120, April 2025.
Abstract Objective In the present study, a bidirectional two‐sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA‐CN) and ovary‐related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian ...
Ke Peng, Xiao Han, Congquan Wu, Qiaowen Lu, Shujun Gao   +4 more
wiley   +1 more source

Long‐Read Pan‐Cancer Transcriptomics Unravel Distinct Alteration Trends Between Gene and Isoform Expression in Tumorigenesis

iMetaMed, EarlyView.
Long‐read profiling of 144 tumor‐normal pairs identifies isoform‐level cancer dysregulation independent of gene changes. Our scoring system prioritizes isoform‐driven prognostic genes across cancers. ABSTRACT Tumorigenesis involves transcriptomic alterations at both gene and isoform levels.
Yuying Ding, Bo Wu, Dan Zhou, Qiang Li, Dingru Li, Mengyun Cai, Zhiyan Chen, Caimei Zhong, ChuanLe Xiao, Yuhua Deng   +9 more
wiley   +1 more source

Loss of cellular RNA homeostasis contributes to MDA5 activation during virus infection. [PDF]

Nat Immunol
Sampaio NG, Davis T, Gearing LJ, Dias Junior AG, Chauveau L, Wray-McCann G, Odon V, Liudkovska V, McAllan AL, Cursi C, Mayer A, Ratnadiwakara M, Änkö ML, Cieśla M, Hertzog PJ, Rehwinkel J.   +15 more
europepmc   +1 more source

Deciphering transcriptome complexity via long‐read sequencing

iMeta, EarlyView.
Long‐read sequencing is transforming transcriptomics from gene‐level quantification to isoform‐resolved interpretation by directly resolving full‐length transcript structures, transcription in repetitive regions, and linked molecular features. This review provides an end‐to‐end roadmap covering sequencing platforms, library preparation strategies ...
Chuwen Xu, Jia Li, Chenxi Yin, Keying Li, Tian Wang, Shiwen Gao, Yue Yu, Cheng Chang, Ye Wang, Guoqing Tong, Liang Gong, Wen Hu, Guoliang Chai, Yilai Han, Qian Qin, Suoqin Jin, Xiufen Zou, Bo Li, Tianyuan Zhang, Ana Conesa, Yunhao Wang, Dingjie Wang   +21 more
wiley   +1 more source