Results 51 to 60 of about 6,900,738 (371)
PLoS ONE, 2012 CCHCR1 (Coiled-Coil α-Helical Rod protein 1), within the major psoriasis susceptibility locus PSORS1, is a plausible candidate gene with the psoriasis associated risk allele CCHCR1*WWCC.
Mari H Tervaniemi +10 more
doaj +1 more source
The contribution of Alu exons to the human proteome. [PDF]
, 2016 BackgroundAlu elements are major contributors to lineage-specific new exons in primate and human genomes. Recent studies indicate that some Alu exons have high transcript inclusion levels or tissue-specific splicing profiles, and may play important ...
Jiang, Peng +7 more
core +1 more source
Single-cell RNA counting at allele and isoform resolution using Smart-seq3
Nature Biotechnology, 2019 Large-scale sequencing of RNA from individual cells can reveal patterns of gene, isoform and allelic expression across cell types and states1. However, current short-read single-cell RNA-sequencing methods have limited ability to count RNAs at allele and
Michael Hagemann-Jensen +7 more
semanticscholar +1 more source
Expression and splicing mediate distinct biological signals
BMC Biology, 2023 Background Through alternative splicing, most human genes produce multiple isoforms in a cell-, tissue-, and disease-specific manner. Numerous studies show that alternative splicing is essential for development, diseases, and their treatments.
Søren Helweg Dam +2 more
doaj +1 more source
A novel protein isoform of the RON tyrosine kinase receptor transforms human pancreatic duct epithelial cells. [PDF]
, 2016 The MST1R gene is overexpressed in pancreatic cancer producing elevated levels of the RON tyrosine kinase receptor protein. While mutations in MST1R are rare, alternative splice variants have been previously reported in epithelial cancers.
Babicky, M +10 more
core +2 more sources
Alternative Isoform Regulation in Human Tissue Transcriptomes
Nature, 2008 Through alternative processing of pre-messenger RNAs, individual mammalian genes often produce multiple mRNA and protein isoforms that may have related, distinct or even opposing functions.
Eric T. Wang +8 more
semanticscholar +1 more source
Prediction of regulatory targets of alternative isoforms of the epidermal growth factor receptor in a glioblastoma cell line. [PDF]
, 2019 BackgroundThe epidermal growth factor receptor (EGFR) is a major regulator of proliferation in tumor cells. Elevated expression levels of EGFR are associated with prognosis and clinical outcomes of patients in a variety of tumor types. There are at least
Ardell, David H +7 more
core +3 more sources
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
Science, 2018 INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders, including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD), lags behind other fields of medicine.
M. Gandal +34 more
semanticscholar +1 more source
, 2012 The KCNH2 gene encodes the Kv11.1 potassium channel that conducts the rapidly activating delayed rectifier current in the heart. KCNH2 pre-mRNA undergoes alternative processing; intron 9 splicing leads to the formation of a functional, full-length Kv11 ...
Gong, Qiuming +2 more
core +2 more sources
Only one isoform of Drosophila melanogaster CTP synthase forms the cytoophidium.
PLoS Genetics, 2013 CTP synthase is an essential enzyme that plays a key role in energy metabolism. Several independent studies have demonstrated that CTP synthase can form an evolutionarily conserved subcellular structure termed cytoophidium.
Ghows Azzam, Ji-Long Liu
doaj +1 more source