Results 71 to 80 of about 83,578 (286)

Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability

Frontiers in Genetics, 2020
Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias.
Muhammad Imran Naseer, Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Peter Natesan Pushparaj, Peter Natesan Pushparaj, Fehmida Bibi, Fehmida Bibi, Adeel G. Chaudhary, Adeel G. Chaudhary, Adeel G. Chaudhary   +9 more
doaj   +1 more source

CFTR protein analysis of splice site mutation 2789+5 G-A [PDF]

Journal of Cystic Fibrosis, 2008
Ex vivo biochemical analysis of rectal biopsies of a carrier of the mild 2789+5 G-A CFTR frameshift splice site mutation revealed mutant truncated CFTR of expected size and an imbalance of more core-glycosylated and less mature full-length CFTR. This first immunoblot analysis of a non-F508del CFTR mutant protein derived from human tissue demonstrates ...
Manfred Ballmann, Burkhard Tümmler, Andrea van Barneveld, Frauke Stanke, Andreas Claaß   +4 more
openaire   +3 more sources

Unveiling unique protein and phosphorylation signatures in lung adenocarcinomas with and without ALK, EGFR, and KRAS genetic alterations

Molecular Oncology, EarlyView.
Proteomic and phosphoproteomic analyses were performed on lung adenocarcinoma (LUAD) tumors with EGFR, KRAS, or EML4–ALK alterations and wild‐type cases. Distinct protein expression and phosphorylation patterns were identified, especially in EGFR‐mutated tumors. Key altered pathways included vesicle transport and RNA splicing.
Fanni Bugyi, Mirjam Balbisi, Simon Sugár, Lóránd Váncza, Eszter Regős, Ilona Kovalszky, Ibolya Laczó, Tünde Harkó, Gábor Kecskeméti, Zoltán Szabó, Judit Moldvay, László Drahos, Lilla Turiák   +12 more
wiley   +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

Elimination of mRNA splicing by a point mutation outside the conserved GU at 5′ splice sites [PDF]

Nucleic Acids Research, 1984
Nearly all mRNA introns begin with the dinucleotide GU. Mutations in either of these virtually invariant bases have been found to inactivate the corresponding 5' splice site. Until now single base changes in neighboring bases have not been found to completely inactivate a 5' splice site.
Arnold J. Berk, Craig Montell
openaire   +3 more sources

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

Liver‐specific lncRNAs associated with liver cancers

FEBS Open Bio, EarlyView.
Long non‐coding RNAs (lncRNAs) are regulatory molecules with various functions. They are more tissue‐specific than proteins and can be used as potential biomarkers, particularly in cancer diagnostics and prognosis. In this review, we have systematically compiled all lncRNAs with exclusive expression in the human liver, verified their liver specificity ...
Olga Y. Burenina, Roman K. Makarchenko, Maria P. Rubtsova, Olga A. Dontsova   +3 more
wiley   +1 more source

The E3 ubiquitin ligase, RNF219, suppresses CNOT6L expression to exhibit antiproliferative activity

FEBS Open Bio, EarlyView.
We identified RNF219 as a CCR4‐NOT complex‐interacting E3 ubiquitin ligase that targets the CCR4‐NOT subunit CNOT6L for ubiquitination. RNF219 directly binds to the DUF3819 domain of CNOT1 through its putative α‐helix spanning amino acids 521–542. Our findings also suggest that antiproliferative activity of RNF219 is at least partially mediated by ...
Shou Soeda, Melissa Montrose, Akinori Takahashi, Risa Ishida, Sandrine Burriel, Nao Ohmine, Tohru Natsume, Shungo Adachi, Minsoo Kim, Tadashi Yamamoto   +9 more
wiley   +1 more source

Protocol to study the effects of mutations near splicing sites on pre-mRNA splicing

STAR Protocols
Mutations at RNA splicing sites or regulatory elements can alter splicing efficiency or patterns, affecting RNA functionality and tissue-specific expression. Here, we present a protocol to study the impact of mutations near splicing sites on precursor mRNA (pre-mRNA) splicing.
Daoyuan Xie, Qiongling Peng, Yu Tian, Yangyun Han, Guanting Lu   +4 more
openaire   +2 more sources

Blocking the voltage‐gated sodium channel hNav1.5 as a novel pH‐dependent mechanism of action for tamoxifen

FEBS Open Bio, EarlyView.
Patch‐clamp recordings revealed that tamoxifen inhibits voltage‐gated sodium channels, especially under acidic conditions, both common in metastatic cancer cells. These effects may explain certain antitumor properties of tamoxifen, highlighting a novel mechanism of action beyond its known endocrine effects.
Karl Josef Föhr, Michael Fauler, Thomas Zimmer, Bettina Jungwirth, Hubert Schrezenmeier, David Alexander Christian Messerer   +5 more
wiley   +1 more source