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The estrogen receptor α Σ3 mRNA splicing variant is differentially regulated by estrogen and progesterone in the rat uterus
(BioScientifica, 2005-07)
The gene for estrogen receptor a (ERa) has been shown to be under complex hormonal control and its activity can be regulated by mRNA alternative splicing. Here we examined the regulation of ERa transcription and translation ...
Metabotropic glutamate receptor (mGlu3R) splicing variants in aging and Alzheimer´s disease
(Wiley, 2019)
Subtype 3 metabotropic glutamate receptors (mGlu3R) promote several neuroprotective effects, especially in glial cells. We have previously demonstrated that mGlu3R activation in astrocytes promotes the non-amyloidogenic ...
The tip of the iceberg: emerging roles of TORC1, and its regulatory functions in plant cells
(Oxford University Press, 2021-01-19)
Target of Rapamycin (TOR) is an evolutionarily conserved protein kinase that plays a central role in coordinating cell growth with light availability, the diurnal cycle, energy availability, and hormonal pathways. TOR ...
Neurofibromatosis type 1: Splicing mutation detected by MLPA and DNA sequencing in ArgentinaNeurofibromatosis type 1: Splicing mutation detected by MLPA and DNA sequencing in Argentina
(Medicina (Buenos Aires), 2015-03)
La neurofibromatosis tipo 1 (NF1) es un desorden genético autosómico dominante, con una prevalenciade 1 en 2500-3000 nacidos vivos. La dificultad diagnóstica se debe al tamaño extenso delgen NF1 con pocos sitios hot-spot, ...
Splice variant rs72613567 prevents worst histologic outcomes in patients with nonalcoholic fatty liver disease
(American Society for Biochemistry and Molecular Biology, 2018-10)
Hydroxysteroid 17-β dehydrogenase 13 (HSD17B13) is a lipid droplet-associated protein; its gene-encoding variants affect the chronic liver diseases, including nonalcoholic fatty liver disease (NAFLD). To estimate the effect ...
A Novel Splice Variant of Human TGF-β Type II Receptor Encodes a Soluble Protein and Its Fc-Tagged Version Prevents Liver Fibrosis in vivo
(Frontiers Media, 2021-09-10)
We describe, for the first time, a new splice variant of the human TGF-β type II receptor (TβRII). The new transcript lacks 149 nucleotides, resulting in a frameshift and the emergence of an early stop codon, rendering a ...
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
(Lippincott Williams, 2020-07)
Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in ...