Results 71 to 80 of about 606,407 (214)

SNEV is an evolutionarily conserved splicing factor whose oligomerization is necessary for spliceosome assembly [PDF]

, 2005
We have isolated the human protein SNEV as downregulated in replicatively senescent cells. Sequence homology to the yeast splicing factor Prp19 suggested that SNEV might be the orthologue of Prp19 and therefore might also be involved in pre-mRNA splicing.
Grillari, Johannes, Lamond, Angus I., Stadler, Guido, Voglauer, Regina, Eisenhaber, Frank, Löscher, Marlies, Lamond, Angus I.; id_orcid, Pokar, Marion, Ajuh, Paul, Grey, Martin, Fortschegger, Klaus, Ernst, Wolfgang, Katinger, Hermann, Chusainow, Janet   +13 more
core   +1 more source

Splicing-associated epitopes identified using ≤300nM.

, 2021
(A) Distribution of the number of candidate tumor-specific splicing-derived neoepitopes (splicing-epitopes) and splicing-affected self-epitopes that would be depleted in the altered isoform (self-epitopes) using ≤300nM to define candidate epitopes.
Judith Pérez-Granado (11442479), Juan L. Trincado (11442473), Ferran Sanz (89706), Marina Reixachs-Solé (11442476), Tim Fugmann (11442482), Eduardo Eyras (3024), Jun Yokota (133873)   +6 more
core   +1 more source

Loss of AMBRA1 activates MAPK and angiogenesis signaling pathways in melanoma cells

FEBS Open Bio, EarlyView.
Loss of AMBRA1 in melanoma cells activates multiple oncogenic pathways associated with tumor progression. Transcriptomic and protein network analyses revealed that AMBRA1 depletion enhances MAPK/ERK signaling, angiogenesis, TGF‐β/EMT signaling, and Wnt/axon guidance pathways.
Milad Ibrahim, Marco Corazzari, Iman Osman, Jane Armstrong, Noel Carter   +4 more
wiley   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source

Subtype-specific alternative splicing events in breast cancer identified by large-scale data analysis

Scientific Reports
Genome analysis in cancer has focused mainly on elucidating the function and regulatory mechanisms of genes that exhibit differential expression or mutation in cancer samples compared to normal samples.
Yui Deguchi, Chie Kikutake, Mikita Suyama   +2 more
doaj   +1 more source

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing

Orphanet Journal of Rare Diseases, 2021
Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu   +5 more
doaj   +1 more source

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood [PDF]

, 2005
BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.
Haworth, SG, Berger, R; id_orcid, Aldred, M A, Morrell, NW, Harrison, RE, Morrell, Nicholas W., Morrell, N W, Mache, CJ, Haworth, S G, Trembath, R C, Mache, Christoph J., Aldred, MA, Trembath, RC, Berger, Rolf, Aldred, Micheala A., Berger, R, Tulloh, R, Harrison, R E, Harrison, Rachel E., Haworth, Sheila G., Mache, C J, Trembath, Richard C., Tulloh, Robert   +22 more
core   +1 more source

Using cell‐free RNA to identify B‐ and T‐cell clonality for diagnosis and monitoring of B‐ and T‐cell neoplasms

FEBS Open Bio, EarlyView.
Using peripheral blood for determining B‐cell or T‐cell clonality is more reliable when we use cell‐free RNA (cfRNA) because cells release blood significantly more RNA than DNA. Next‐generation sequencing (NGS) of cfRNA allows us to evaluate fragment cfRNA and evaluate clonality reliably without the need for prior determination of the specific dominant
Adam Albitar, Sally Agersborg, Ahmed Charifa, Pooja Phull, Noa Biran, David Vesole, Harsh Parmar, Andrew Pecora, Andrew Ip, Andre Goy, David Siegel, Maher Albitar   +11 more
wiley   +1 more source

Molecular basis of anti-CD36 alloimmunization: transcriptomic evidence linking intronic splice-site mutations to CD36 loss-of-function

Frontiers in Immunology
BackgroundCD36 deficiency is a genetic disorder that can lead to fetal/neonatal alloimmune thrombocytopenia or platelet transfusion refractoriness. While CD36 deficiency caused by exonic mutations are well established, the RNA splicing mechanism by ...
Hui Ren, Hui Ren, Hong Luo, Hong Luo, Haoqiang Ding, Haoqiang Ding, Xin Ye, Xin Ye, Mingqin Mai, Xinnian Li, Dawei Chen, Dawei Chen, Yalin Luo, Yalin Luo, Shengxue Luo, Shengxue Luo, Xiuzhang Xu, Xiuzhang Xu, Yongmei Nie, Yongmei Nie, Jing Wu, Huaqin Liang, Huaqin Liang, Wenjie Xia, Wenjie Xia   +24 more
doaj   +1 more source

Neuronal cell type-specific alternative splicing is regulated by the KH domain protein SLM1 [PDF]

, 2014
The unique functional properties and molecular identity of neuronal cell populations rely on cell type-specific gene expression programs. Alternative splicing represents a powerful mechanism for expanding the capacity of genomes to generate molecular ...
Yoko Iijima, Scheiffele, Peter, Iijima, Takatoshi, Harald Witte, Witte, Harald, Takatoshi Iijima, Iijima, Yoko, Peter Scheiffele   +7 more
core   +1 more source