Results 91 to 100 of about 64,155 (301)
Supplementary Data from Aberrant Splicing of <i>Hugl-1</i> Is Associated with Hepatocellular Carcinoma Progression [PDF]
Xuefeng Lu +12 more
openalex +1 more source
A regulatory axis involving APE1, AUF1, and miR‐221 is proposed. Pri‐miR‐221 is processed by DROSHA and DICER to generate mature miR‐221, which targets p27Kip1 mRNA. APE1 and AUF1 compete for pre‐miR‐221 binding. Reduced APE1/AUF1 levels impair miR‐221 biogenesis, decrease p27Kip1 mRNA degradation, and promote cell cycle progression, chemoresistance ...
Matilde Clarissa Malfatti +3 more
wiley +1 more source
ERα splice variant ERα∆7 lacks the C‐terminus, and its expression may change phenotypes of breast cancers. Our results showed that ERα∆7 is found in the luminal A subtype, and elevated ERα∆7 levels are linked to improved cell survival with lower proliferation and migration.
Long Wai Tsui +10 more
wiley +1 more source
TIN: An R Package for Transcriptome Instability Analysis
Alternative splicing is a key regulatory mechanism for gene expression, vital for the proper functioning of eukaryotic cells. Disruption of normal pre-mRNA splicing has the potential to cause and reinforce human disease.
Bjarne Johannessen +2 more
doaj +1 more source
Recurrent mutations in the spliceosome are observed in several human cancers, but their functional and therapeutic significance remains elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of ...
Rachel B. Darman +35 more
doaj +1 more source
Bisphenol A (BPA), a common chemical in plastics, exerts dual effects on bladder cancer cells: low doses promote growth and migration, while high doses suppress growth and migration. Multi‐omics and bioinformatics reveal BPA acts via MAPK and inflammatory pathways.
Shaomin Niu +10 more
wiley +1 more source
Myotonic dystrophy type 1 (DM1) is caused by transcription of CUG repeat RNA, which causes sequestration of muscleblind-like 1 (MBNL1) and upregulation of CUG triplet repeat RNA-binding protein (CUG-BP1).
Yoshihiro Yamashita +7 more
doaj +1 more source
Neuronal impact of patient-specific aberrant NRXN1α splicing
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human induced pluripotent stem cell (hiPSC)-derived neurons well represent the diversity of NRXN1α alternative splicing observed in the human brain, cataloguing 123 high-confidence ...
Erin Flaherty +22 more
openaire +3 more sources
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Alternative Splicing: A Potential Therapeutic Target in Hematological Malignancies
Leukemia represents the most prevalent malignancy in children, constituting 30% of childhood cancer cases, with acute lymphoblastic leukemia (ALL) being particularly heterogeneous.
Gazmend Temaj +6 more
doaj +1 more source

