Results 61 to 70 of about 1,648 (159)

Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling

open access: yesBrain and Behavior, Volume 15, Issue 11, November 2025.
We report a 32‐year‐old female patient with SANDO syndrome (a subtype of mitochondrial encephalomyopathy), who carries two heterozygous POLG mutations: a novel c.3297G>C and a known c.1774C>T. The neuronal models expressing these mutations demonstrated mitochondrial dysfunction, thereby confirming their pathogenicity.
Fanjing Zhou   +6 more
wiley   +1 more source

Analysis of hepatitis B virus integration identifies KMT2B as a novel cancer‐related gene in pancreatic cancer

open access: yesClinical and Translational Medicine, Volume 15, Issue 8, August 2025.
HBV DNA integrates in multiple genes including KMT2B in pancreatic cancer. KMT2B upregulation caused by HBV integration or other mechanisms promotes FYN expression via histone H3K4 trimethylation at its promoter region. Increased FYN expression activates the PI3K/Akt signalling pathway, thus driving PDAC cell proliferation, migration and invasion ...
Mengge Li   +16 more
wiley   +1 more source

Stronger inflammatory/cytotoxic T cell response in women identified by microarray analysis [PDF]

open access: yes, 2008
Women develop chronic inflammatory autoimmune diseases like lupus more often than men. The mechanisms causing the increased susceptibility are incompletely understood, although estrogen is believed to contribute.
Anura Hewagama   +4 more
core   +1 more source

Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and Function of Genes Causing Deafness [PDF]

open access: yes, 2015
Objectives: We sought to elucidate the gene expression profiles of the causative genes as well as the localization of the encoded proteins involved in hereditary hearing loss.
Hattori, Mitsuru   +11 more
core   +1 more source

Matching maternal and paternal experiences underpin molecular thermal acclimation

open access: yesMolecular Ecology, Volume 34, Issue 15, August 2025.
Abstract The environment experienced by one generation has the potential to affect the subsequent one through non‐genetic inheritance of parental effects. Since both mothers and fathers can influence their offspring, questions arise regarding how the maternal, paternal and offspring experiences integrate into the resulting phenotype.
L. C. Bonzi   +5 more
wiley   +1 more source

Functional Materials Targeted Regulation of Gasdermins: From Fundamentals to Functionalities and Applications

open access: yesAdvanced Science, Volume 12, Issue 16, April 24, 2025.
Targeted regulation of pyroptosis to modulate the immune landscape is a novel design strategy for cancer immunotherapy and anti‐inflammatory treatment. Pyroptosis, as a double‐edged sword, underscores the importance of optimizing the design strategy of functional materials and appropriately activating pyroptosis for the effective treatment of diseases.
Luyao Tian   +5 more
wiley   +1 more source

Knockdown of RFC4 inhibits cell proliferation of oral squamous cell carcinoma in vitro and in vivo

open access: yesFEBS Open Bio, Volume 15, Issue 2, Page 346-358, February 2025.
We evaluated the expression pattern and function of replication factor C subunit 4 (RFC4) and its potential as a prognostic and predictive biomarker in oral squamous cell carcinoma (OSCC) through bioinformatics analysis. Silencing RFC4 induced G2/M cell cycle arrest and suppressed OSCC cell proliferation both in vitro and in vivo.
Pengyue You   +9 more
wiley   +1 more source

Cytosine methylation flags mitochondrial RNA for degradation. [PDF]

open access: yes
Mitochondrial double-stranded RNA (dsRNA) can form spontaneously in mitochondria, blocking mitochondrial gene expression and triggering an immune response. A recent study by Kim, Tan, et al.
Jourdain, A.A., Recazens, E.
core   +1 more source

Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes [PDF]

open access: yes, 2022
Leigh syndrome is a rare inherited, complex, neurometabolic disorder with genetic and clinical heterogeneity. Features present in affected patients range from classical stepwise developmental regression to ataxia, seizures, tremor, and occasionally ...
Murphy, Alan E   +4 more
core  

Discovery and Mechanistic Studies of Novel Redox Modulators for Treatment of Pancreatic Cancer [PDF]

open access: yes, 2020
Pancreatic cancer remains a devastating disease and conventional chemotherapy shows modest efficacy because of drug resistance and systemic toxicity.
Hu, Shuai
core  

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