Overview of latest articles and publications on gene therapy in PubMed, including Human Gene Therapy, Journal of Molecular Medicine and Journal of Gene Medicine. PubMed is a service of the US National Library of Medicine that includes over 18 million citations from MEDLINE and other life science journals.

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• Revealing disease subtypes and heterogeneity in common variable immunodeficiency through transcriptomic analysis Sat, 12 Oct 2024 06:00:00 -0400
  Common Variable Immunodeficiency (CVID) is a primary immunodeficiency characterized by reduced levels of specific immunoglobulins, resulting in frequent infections, autoimmune disorders, increased cancer risk, and diminished antibody production despite an adequate B cell count. With its clinical manifestations being highly variable, the classification of CVID, including the widely recognized Freiburg classification, is primarily based on clinical symptoms and genetic variations. Our study aims...


• Autophagy and inflammasome activation are associated with poor response to FLT3 inhibitors in patients with FLT3-ITD acute myeloid leukemia Sat, 12 Oct 2024 06:00:00 -0400
  Beyond its clinical diversity and severity, acute myeloid leukemia (AML) is known for its complex molecular background and for rewiring biological processes to aid disease onset and maintenance. FLT3 mutations are among the most recurring molecular entities that cooperatively drive AML, and their inhibition is a critical molecularly oriented therapeutic strategy. Despite being a promising avenue, it still faces challenges such as intrinsic and acquired drug resistance, which led us to...


• Extracellular vesicles from human cardiac stromal cells up-regulate cardiomyocyte protective responses to hypoxia Sat, 12 Oct 2024 06:00:00 -0400
  CONCLUSIONS: This study demonstrates the potential of cardiac tissues, routinely discarded following surgery, as a valuable source of EVs for myocardial infarction therapy. We also identify miR-1260a as protective of CM hypoxia.


• Cerebral venous sinus thrombosis associated with JAK2 V617F mutation-related pre-primary myelofibrosis: a case report and literature review Sat, 12 Oct 2024 06:00:00 -0400
  CONCLUSION: This case highlights the importance of recognizing dynamic changes in routine blood tests that may link CVST to underlying hematological disorders. The JAK2 mutation is not only associated with MPNs but also increases the risk of thrombosis, including CVST. Further investigation is warranted to better understand the mechanisms by which JAK2 mutations contribute to thrombosis and to explore the potential benefits of JAK2 inhibitors in reducing this risk.


• Transcriptome and proteome profiling reveals TREM2-dependent and -independent glial response and metabolic perturbation in an Alzheimer's mouse model Sat, 12 Oct 2024 06:00:00 -0400
  Elucidating the intricate molecular mechanisms of Alzheimer's disease (AD) requires a multidimensional analysis incorporating various omics data. In this study, we employed transcriptome and proteome profiling of App^(NL-G-F), a human APP knock-in model of amyloidosis, at the early and mid-stages of amyloid-beta (Aβ) pathology to delineate the impacts of Aβ deposition on brain cells. By contrasting App^(NL-G-F) mice with TREM2 (Triggering receptor expressed on myeloid cells 2) knockout models,...


• Therapeutic effect of bloodletting on bone deterioration induced by hypobaric hypoxia in young rats Sat, 12 Oct 2024 06:00:00 -0400
  CONCLUSION: This study highlights the detrimental effect of hypobaric hypoxia on the bone microstructure of juvenile rats and underscores the therapeutic potential of bloodletting to ameliorate this condition. Additionally, our study on the regulatory mechanisms mediating bloodletting's effects on gene expression offers fresh perspectives on bone alterations. It suggests promising avenues for the development of novel preventative measures and targeted therapies to address the challenges posed by...


• Predictive factors and dose-response effect of rehabilitation for upper limb induced recovery after stroke: systematic review with proportional meta-analyses Sat, 12 Oct 2024 06:00:00 -0400
  BACKGROUND AND PURPOSE: To date, factors with predictive value for upper limb (UL) recovery after stroke are acknowledged, but little is known on clinical features predicting outcome in response to rehabilitation. The purpose of this review is to investigate whether any factor allows identification of Responders to rehabilitation, and whether clinically important recovery of motor function relies on modalities and dose of intervention received, at different times after stroke.


• CYP1B1 promotes PARPi-resistance via histone H1.4 interaction and increased chromatin accessibility in ovarian cancer Sat, 12 Oct 2024 06:00:00 -0400
  CONCLUSION: Our findings reveal a novel role for CYP1B1 in driving PARPi resistance through distinct molecular mechanisms in A2780-OlaR. This study highlights the importance of chromatin accessibility in PARPi efficacy and suggests the CYP1B1/H1.4 axis as a promising therapeutic target for overcoming drug resistance in ovarian cancer, offering potentially therapeutic benefits.


• Immune microenvironment modulation following neoadjuvant therapy for oesophageal adenocarcinoma: a translational analysis of the DEBIOC clinical trial Sat, 12 Oct 2024 06:00:00 -0400
  CONCLUSION: OAC may be subdivided into three immune-related subgroups which undergo modulation in response to neoadjuvant therapy with marked suppression of the immune microenvironment in HER2-positive/immune-high tumours.


• Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Sat, 12 Oct 2024 06:00:00 -0400
  CONCLUSION: MPPH syndrome remains a rare and challenging diagnosis, with fewer than 100 cases reported. This case highlights the importance of early genetic testing and neuroimaging in the diagnosis and management of MPPH. The unique presentation of IVH and restricted diffusion warrants further investigation into the syndrome's variable phenotypic spectrum. Early intervention and targeted therapy may help manage seizure activity and improve outcomes.


• Beyond Numbers: A Call to Action for Accurate Estimation of Spinal Muscular Atrophy in the Middle East and North Africa Region Sat, 12 Oct 2024 06:00:00 -0400
  No abstract


• Recent advances and current status of gene therapy for epilepsy Sat, 12 Oct 2024 06:00:00 -0400
  CONCLUSIONS: Here, we summarize the relevant research and clinical advances in gene therapy for epilepsy and outline the challenges facing its clinical application. In addition to the shortcomings inherent in gene therapy components, the reconfiguration of excitatory and inhibitory properties in epilepsy treatment is a delicate process. On-demand, cell-autonomous treatments and multidisciplinary collaborations may be crucial in addressing these issues. Understanding gene therapy for epilepsy...


• Novel dual inhibitor targeting CDC25 and HDAC for treating triple-negative breast cancer Sat, 12 Oct 2024 06:00:00 -0400
  Triple-negative breast cancer (TNBC) presents a significant challenge for treatment due to its aggressive nature and the lack of effective therapies. This study developed dual inhibitors against cell division cycle 25 (CDC25) and histone deacetylases (HDACs) for TNBC treatment. CDC25 phosphatases are crucial for activating cyclin-dependent kinases (CDKs), the master regulators of cell cycle progression. HDACs regulate various biological processes by deacetylating histone and non-histone...


• The Biomimetic Electrical Stimulation System Inducing Osteogenic Differentiations of BMSCs Sat, 12 Oct 2024 06:00:00 -0400
  Electrical stimulation has been used clinically as an adjunct therapy to accelerate the healing of bone defects, and its mechanism requires further investigations. The complexity of the physiological microenvironment makes it challenging to study the effect of electrical signal on cells alone. Therefore, an artificial system mimicking cell microenvironment in vitro was developed to address this issue. In this work, a novel electrical stimulation system was constructed based on polypyrrole...


• Massive hemolysis in paroxysmal nocturnal hemoglobinuria after switching from proximal complement inhibitor to anti-C5 therapy: A lesson not to be forgotten Sat, 12 Oct 2024 06:00:00 -0400
  No abstract


• Dysregulation of T cell response in the pathogenesis of inflammatory bowel disease Sat, 12 Oct 2024 06:00:00 -0400
  Inflammatory bowel disease (IBD), comprised of Crohn's disease (CD) and ulcerative colitis (UC), are gut inflammatory diseases that were earlier prevalent in the Western Hemisphere but now are on the rise in the East, with India standing second highest in the incidence rate in the world. Inflammation in IBD is a cause of dysregulated immune response, wherein helper T (Th) cell subsets and their cytokines play a major role in the pathogenesis of IBD. In addition, gut microbiota, environmental...


• Dihydroartemisinin Sensitizes Lung Cancer Cells to Cisplatin Treatment by Upregulating ZIP14 Expression and Inducing Ferroptosis Sat, 12 Oct 2024 06:00:00 -0400
  CONCLUSION: Our findings suggest that combining dihydroartemisinin (DHA) with cisplatin (DDP) presents a promising strategy to overcome chemoresistance in lung cancer patients. Importantly, administering DHA during chemotherapy intervals could further optimize treatment outcomes, enhancing the overall efficacy of lung cancer chemotherapy.


• Breaking the barriers: Overcoming cancer resistance by targeting the NLRP3 inflammasome Sat, 12 Oct 2024 06:00:00 -0400
  Inflammation has a pivotal role in the initiation and progression of various cancers, contributing to crucial processes such as metastasis, angiogenesis, cell proliferation and invasion. Moreover, the release of cytokines mediated by inflammation within the tumour microenvironment (TME) has a crucial role in orchestrating these events. The activation of inflammatory caspases, facilitated by the recruitment of caspase-1, is initiated by the activation of pattern recognition receptors on the...


• Multi-omics characterization of lymphedema-induced adipose tissue resulting from breast cancer-related surgery Sat, 12 Oct 2024 06:00:00 -0400
  Secondary lymphedema (LE) following breast cancer-related surgery is a life-long complication, which currently has no cure. LE induces significant regional adipose tissue deposition, requiring liposuction as a treatment. Here, we aimed to elucidate the transcriptional, metabolomic, and lipidomic signature of the adipose tissue developed due to the surgery-induced LE in short- and long-term LE patients and compared the transcriptomic landscape of LE adipose tissue to the obesity-induced adipose...


• Research on ameliorating pulmonary fibrosis in silicosis mice of Cordyceps cicadae polysaccharides Sat, 12 Oct 2024 06:00:00 -0400
  Objective: A mouse silicosis model was constructed by injecting silicon dioxide (SiO(2)) particles into the trachea to explore the effect and mechanism of Cordyceps cicadae polysaccharides (CCP) on ameliorating pulmonary fibrosis in silicosis mice. Methods: In May 2023, CCP were extracted and isolated, the monosaccharide composition and functional group composition were analyzed by high performance liquid chromatography and Fourier transform infrared spectroscopy. C57BL/6J mice were injected...