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MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing
(Springer, 2020-10)
Germline pathogenic variants in the DNA mismatch repair genes (MMR): MLH1, MSH2, MSH6, and PMS2, are causative of Lynch syndrome (LS). However, many of the variants mapping outside the invariant splice site positions (IVS ...
Profiling Lgals9 splice variant expression at the fetal-maternal interface: implications in normal and pathological human pregnancy
(Oxford University Press, 2013)
Disruption of fetal-maternal tolerance mechanisms can contribute to pregnancy complications, including spontaneous abortion. Galectin-9 (LGALS9), a tandem repeat lectin associated with immune modulation, is expressed in ...
Characterization of the molecular changes associated with the overexpression of a novel epithelial cadherin splice variant mRNA in a breast cancer model using proteomics and bioinformatics approaches: identification of changes in cell metabolism and an in
(Springer, 2019-05)
Breast cancer (BC) is the most common female cancer and the leading cause of cancer death in women worldwide. Alterations in epithelial cadherin (E-cadherin) expression and functions are associated to BC, but the underlying ...
Chromatin, DNA structure and alternative splicing
(Elsevier Science, 2015-06)
Coupling of transcription and alternative splicing via regulation of the transcriptional elongation rate is a well-studied phenomenon. Template features that act as roadblocks for the progression of RNA polymerase II ...
Overexpression of survivin in pediatric Hodgkin lymphoma tumor cells: Characterization of protein expression and splice-variants transcription profile
(Academic Press Inc Elsevier Science, 2019-06)
Survivin is abundantly expressed during fetal development but absent in most differentiated adult tissues; an exception being components of the immune system, such as B and T lymphocytes. Beyond acting as a master regulator ...
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
(Cell Press, 2021-08)
Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate ...
Alternative AKT2 splicing produces protein lacking the hydrophobic motif regulatory region
(Public Library of Science, 2020-11)
Three AKT serine/threonine kinase isoforms (AKT1/AKT2/AKT3) mediate proliferation, metabolism, differentiation and anti-apoptotic signals. AKT isoforms are activated downstream of PI3-kinase and also by PI3-kinase independent ...
Alternative splicing variant of RHBDD2 is associated with cell stress response and breast cancer progression
(Spandidos Publications, 2018-08)
RHBDD2 is an intramembrane pseudoprotease member of the Rhomboid superfamily. Our previous studies in breast and colorectal cancer indicate an association between RHBDD2 overexpression and advanced tumor stages. Two ...
The transcription factor FBI-1 inhibits SAM68-mediated BCL-X alternative splicing and apoptosis
(Nature Publishing Group, 2014-02)
Alternative splicing (AS) is tightly coupled to transcription for the majority of human genes. However, how these two processes are linked is not well understood. Here, we unveil a direct role for the transcription factor ...