Results 61 to 70 of about 5,805 (197)
Advanced Science, EarlyView.CHCHD10 loss in Alzheimer's disease is associated with mitochondrial dysfunction, epigenomic disruption, and tau pathology. Restoration of CHCHD10 shifts DNA methylation toward a non‐disease state and reduces tau and amyloid pathology, with KATNAL2 acting as a downstream effector.
Teresa M. Thomas +13 more
wiley +1 more source
Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia
Advanced Science, EarlyView.Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Cloning and molecular characterization of Trypanosoma cruzi U2, U4, U5, and U6 small nuclear RNAs
Memorias do Instituto Oswaldo Cruz, 2007 Small nuclear RNAs (snRNAs) are important factors in the functioning of eukaryotic cells that form several small complexes with proteins; these ribonucleoprotein particles (U snRNPs) have an essential role in the pre-mRNA processing, particularly in ...
DL Ambrósio, MTA Silva, RMB Cicarelli
doaj +1 more source
Single‐cell atlas of neuroglial dynamics in SNCA‐A53T Parkinson's disease mouse model
Animal Models and Experimental Medicine, EarlyView.We performed single‐cell RNA sequencing of midbrain and striatal tissues from SNCA‐A53T Parkinson's disease (PD) mice, revealing glia‐enriched PD‐risk gene signatures and disease‐specific subpopulations. Transcriptional dysregulation of key TFs (e.g., Rorb, Foxc1) and enhanced neuroinflammatory signaling (SEMA, CCL, MIF) were identified.
Binqing Qin +7 more
wiley +1 more source
Expression of PDLIM5 Spliceosomes and Regulatory Functions on Myogenesis in Pigs
CellsMeat yield, determined by muscle growth and development, is an important economic trait for the swine industry and a focus of research in animal genetics and breeding. PDZ and LIM domain 5 (PDLIM5) are cytoskeleton-related proteins that play key roles in
Yu Fu +6 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2021 Objective PE is a pregnancy‐specific syndrome that affects 3%–5% of pregnant women. It often presents as new‐onset hypertension and proteinuria during the third trimester.
Tao Zhang +11 more
doaj +1 more source
Seminars in Cell & Developmental Biology, 2018 The U12-dependent (minor) spliceosome excises a rare group of introns that are characterized by a highly conserved 5' splice site and branch point sequence. Several new congenital or somatic diseases have recently been associated with mutations in components of the minor spliceosome.
Bhupendra, Verma +3 more
openaire +2 more sources
Rapid Access to Photoswitchable RNA Binders: Fluorination Enhances Protein Rescue by Exon Inclusion
Chemistry – A European Journal, EarlyView.An adaptable approach, many light‐switchable RNA binders. We report a versatile strategy for rapidly synthesizing photoswitchable RNA binders. The ligands can target SMN2 pre‐mRNA, restoring the levels of the corresponding protein by exon‐inclusion rescue.
Lei Zhang +10 more
wiley +1 more source