Results 121 to 130 of about 394,248 (332)

A single gene mutation predicts response to immune checkpoint blockade in ovarian clear cell carcinoma

Molecular Oncology, EarlyView.
Loss‐of‐function mutations in the scaffold subunit of protein phosphatase 2A (PP2A), PPP2R1A, sensitize ovarian clear cell carcinoma to immune checkpoint blockade (ICB) by enhancing the interferon gamma response and promoting antitumor immune cell infiltration.
Matheus Henrique Dias, René Bernards
wiley   +1 more source

TassDB2 - A comprehensive database of subtle alternative splicing events

BMC Bioinformatics, 2010
Background Subtle alternative splicing events involving tandem splice sites separated by a short (2-12 nucleotides) distance are frequent and evolutionarily widespread in eukaryotes, and a major contributor to the complexity of transcriptomes and ...
Hampe Jochen, Rosenstiel Philip, Huse Klaus, Szafranski Karol, Friedel Swetlana, Gausmann Ulrike, Jahn Niels, Lenser Thorsten, Sinha Rileen, Schuster Stefan, Hiller Michael, Backofen Rolf, Platzer Matthias   +12 more
doaj   +1 more source

Beyond digital twins: the role of foundation models in enhancing the interpretability of multiomics modalities in precision medicine

FEBS Open Bio, EarlyView.
This review highlights how foundation models enhance predictive healthcare by integrating advanced digital twin modeling with multiomics and biomedical data. This approach supports disease management, risk assessment, and personalized medicine, with the goal of optimizing health outcomes through adaptive, interpretable digital simulations, accessible ...
Sakhaa Alsaedi, Xin Gao, Takashi Gojobori   +2 more
wiley   +1 more source

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]

, 2019
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David, Au, Margaret G, Bai, Renkui, Buckley, David J, Collier, Ashley, Cui, Hong, Diaz, Frank, Gahl, William, Graham, John M, Haude, Katrina, Kim, Jaemin, Lewis, Richard, Mathews, Katherine D, Millian Zamora, Francisca, Otero, Maria G, Panzer, Karin, Pierson, Tyler Mark, Tifft, Cynthia J, Tiongson, Emmanuelle, Toro, Camilo, Turner, Lesley   +20 more
core  

The Orevkov invariant of an affine plane curve

, 2001
We show that although the fundamental group of the complement of an algebraic affine plane curve is not easy to compute, it possesses a more accessible quotient, which we call the Orevkov invariant.Comment: 20 ...
Neumann, Walter D., Norbury, Paul
core   +2 more sources

3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons

The Scientific World Journal, 2014
Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. SMN1 gene encodes the SMN protein which plays a key role in spliceosome assembly. Although human patients contain SMN2, a duplicate of
Sunghee Cho, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D. Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong Shen   +9 more
doaj   +1 more source

Hypoxia leads to significant changes in alternative splicing and elevated expression of CLK splice factor kinases in PC3 prostate cancer cells

BMC Cancer, 2018
Background Mounting evidence suggests that one of the ways that cells adapt to hypoxia is through alternative splicing. The aim of this study was firstly to examine the effect of hypoxia on the alternative splicing of cancer associated genes using the ...
Elizabeth Bowler, Sean Porazinski, Simon Uzor, Philippe Thibault, Mathieu Durand, Elvy Lapointe, Kasper M. A. Rouschop, John Hancock, Ian Wilson, Michael Ladomery   +9 more
doaj   +1 more source

Long non‐coding RNAs as therapeutic targets in head and neck squamous cell carcinoma and clinical application

FEBS Open Bio, EarlyView.
Long non‐coding RNAs (lncRNAs) occupy an abundant fraction of the eukaryotic transcriptome and an emerging area in cancer research. Regulation by lncRNAs is based on their subcellular localization in HNSCC. This cartoon shows the various functions of lncRNAs in HNSCC discussed in this review.
Ellen T. Tran, Ruchi A. Patel, Amogh Chariyamane, Ratna B. Ray   +3 more
wiley   +1 more source

Alternative Splicing and Cancer

Journal of Nucleic Acids, 2012
Alternative splicing of premessenger RNAs is a key step in the gene expression process, which allows the synthesis of different products from the same gene and contributes to increase the complexity of the proteome coded by a limited number of genes. Specialized high-throughput technologies (RNA-Seq, splicing-sensitive microarrays) aiming at analyzing ...
Auboeuf D, CarmoFonseca M, Valcarcel J, Biamonti G   +3 more
openaire   +4 more sources

Neurotoxic amyloid β‐peptide and tau produce cytokine‐like effects on PMCA in glioblastoma cell lines, enhancing its activity and isoforms expression

FEBS Open Bio, EarlyView.
Two biomarkers of Alzheimer's disease, amyloid β‐peptide (Aβ) and tau, induce the transformation of U‐251 and other glioblastoma cell lines into neurotoxic A1‐like reactive astrocytes. This transformation is produced by cytokines and is followed by upregulation of PMCA activity and isoform expression, and is closely associated with inflammation, as ...
María Berrocal, Alberto Alvarez‐Barrientos, Ana M. Mata   +2 more
wiley   +1 more source