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]

open access: gold, 2023
Xuefeng Lu   +12 more
openalex   +1 more source

The cooperative regulation of miR‐221 by APE1 and AUF1 impacts p27Kip1 defining a miR signature relevant for cervical cancer

open access: yesFEBS Open Bio, EarlyView.
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

Exon 7 splicing of ERα predicts poor prognosis and increases phenotypic heterogeneity in luminal a subtype breast cancer

open access: yesFEBS Open Bio, EarlyView.
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

open access: yesCancer Informatics, 2015
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

Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point

open access: yesCell Reports, 2015
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

Quantitative proteomic analysis reveals different characteristics of bladder cancer cells after exposure to bisphenol A

open access: yesFEBS Open Bio, EarlyView.
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

LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity

open access: yesNeurobiology of Disease, 2014
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

open access: yesNature Genetics, 2019
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yesHematology Reports
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

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