Results 141 to 150 of about 502,320 (296)

Increased gene copy number of DEFA1/DEFA3 worsens sepsis by inducing endothelial pyroptosis. [PDF]

open access: yes, 2019
Sepsis claims an estimated 30 million episodes and 6 million deaths per year, and treatment options are rather limited. Human neutrophil peptides 1-3 (HNP1-3) are the most abundant neutrophil granule proteins but their neutrophil content varies because ...
Chen, QiXing   +12 more
core   +1 more source

Copy Number Variants: Deletion and Duplication Syndromes

open access: yesAnnual Review of Genomics and Human Genetics
Rare genetic variants have illuminated mechanisms of common diseases and have even led to novel treatment approaches. Some copy number variants (CNVs) have been associated with extraordinary risk for complex neuropsychiatric phenotypes and thus offer a valuable entry point for investigating the biological mechanisms and pathways underlying autism ...
Matthew K, Harner   +4 more
openaire   +2 more sources

NKCC1: A key regulator of glioblastoma progression

open access: yesMolecular Oncology, EarlyView.
Glioblastoma (GBM) progression is driven by disrupted chloride cotransporter homeostasis. NKCC1 is highly expressed in stem‐like, astrocytic, and progenitor cells, correlating with earlier recurrence, while overall survival remains unaffected. NKCC1 serves as a prognostic marker and potential therapeutic target, linking chloride transporter imbalance ...
Anja Thomsen   +5 more
wiley   +1 more source

Transcriptional profiling of circulating extracellular vesicles from prebiopsy prostate cancer patients

open access: yesMolecular Oncology, EarlyView.
RNA profiling of circulating extracellular vesicles (EVs) from blood samples of men undergoing prostate biopsy identifies transcripts associated with clinically significant prostate cancer. Integrative analysis with public tumor datasets links EV‐derived gene signatures to tumor stage and progression‐free survival, highlighting CASP3, XRCC2, and RIT1 ...
Stefan Werner   +14 more
wiley   +1 more source

Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. [PDF]

open access: yes, 2019
Accelerating cures for children with cancer remains an immediate challenge as a result of extensive oncogenic heterogeneity between and within histologies, distinct molecular mechanisms evolving between diagnosis and relapsed disease, and limited ...
Baxter, Patricia   +68 more
core  

Adaptor protein CIN85 potentiates the motility of osteosarcoma cells via the Akt/mTOR and MMP2‐COL3A1 axis

open access: yesMolecular Oncology, EarlyView.
CIN85 is highly expressed in osteosarcoma, particularly in metastatic lesions. Its overexpression increases cell migration and Matrigel invasion, while silencing CIN85 suppresses these behaviors. Transcriptome analysis shows that CIN85 regulates MMP2, COL3A1, and Akt/mTOR signaling. Targeting these pathways reverses CIN85‐induced motility, highlighting
Iryna Horak   +10 more
wiley   +1 more source

Genome-wide investigation to assess copy number variants in the Italian local chicken population

open access: yesJournal of Animal Science and Biotechnology
Background Copy number variants (CNV) hold significant functional and evolutionary importance. Numerous ongoing CNV studies aim to elucidate the etiology of human diseases and gain insights into the population structure of livestock.
Filippo Cendron   +2 more
doaj   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

open access: yesMolecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena   +15 more
wiley   +1 more source

Interaction of HS1BP3 with cortactin modulates TKS5 localisation, cell secretion and cancer malignancy

open access: yesMolecular Oncology, EarlyView.
Here, we demonstrate that HS1BP3 interacts with Cortactin through a proline‐rich region (PRR3.1) and show that this interaction, and HS1BP3 itself, promote cancer cell proliferation and invasion. Inhibition of this interaction leads to build‐up of TKS5 in multivesicular endosomes and altered secretion of CD63 and CD9, providing an explanation for the ...
Arja Arnesen Løchen   +9 more
wiley   +1 more source

Insights into a long life without cancer: The case of the bowhead whale

open access: yesMolecular Oncology, EarlyView.
Long‐lived, large‐bodied organisms have evolved powerful anticancer mechanisms that preserve cellular and tissue integrity across extended lifespans. A recent study by Firsanov et al. shows that greater genome stability is a key factor underlying the remarkable longevity and cancer resistance of one such species, the bowhead whale.
Inés Paniagua, Johanna A. Joyce
wiley   +1 more source

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