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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• Validation of the Clinical Use of GIScar, an Academic-developed Genomic Instability Score Predicting Sensitivity to Maintenance Olaparib for Ovarian Cancer Wed, 27 Sep 2023 06:00:00 -0400
  CONCLUSIONS: GIScar is a valuable diagnostic tool, reliably detecting HRD and predicting sensitivity to olaparib for ovarian cancer. GIScar showed high analytic concordance with MGMC test and fewer inconclusive results. GIScar is easily implemented into diagnostic laboratories with a rapid turnaround.


• Germline variant GFI1-36N affects DNA repair and sensitizes AML cells to DNA damage and repair therapy Wed, 27 Sep 2023 06:00:00 -0400
  Growth Factor Independence 1 (GFI1) is a DNA-binding transcription factor and a key regulator of haematopoiesis. GFI1-36N is a germline variant causing a change of serine (S) to asparagine (N) at position 36. We previously reported that the GFI1-36N allele has a prevalence of 10-15% among patients with acute myeloid leukemia (AML) and 5-7% among healthy Caucasians and promotes the development of this disease. Using a multi-omics approach, we show here that GFI1-36N expression is associated with...


• A NEW HYPOTHESIS IN THE TREATMENT OF RECURRENT GLIOBLASTOMA MULTIFORME (GBM). PART 1: INTRODUCTION Wed, 27 Sep 2023 06:00:00 -0400
  Modern treatment of glioblastoma multiforme (GBM) is based on neurosurgical methods combined with radiotherapy and chemotherapy. The prognosis for patients with GBM is extremely poor. Often, complete removal of the tumor is impossible and it often recurs. Therefore, in addition to standard regimens, modern methods such as modulated electrohyperthermia, monoclonal antibodies and individualised multimodal immunotherapy (IMI) based on vaccines and oncolytic viruses are also used in the treatment of...


• Genotype-specific precision tumor therapy using mitochondrial DNA mutation-induced drug release system Wed, 27 Sep 2023 06:00:00 -0400
  Precise killing of tumor cells without affecting surrounding normal cells is a challenge. Mitochondrial DNA (mtDNA) mutations, a common genetic variant in cancer, can directly affect metabolic homeostasis, serving as an ideal regulatory switch for precise tumor therapy. Here, we designed a mutation-induced drug release system (MIDRS), using the single-nucleotide variation (SNV) recognition ability and trans-cleavage activity of Cas12a to convert tumor-specific mtDNA mutations into a regulatory...


• Drug repositioning for ATTR amyloidosis by interactome network corrected by Graph Neural Networks and transcriptome analysis Wed, 27 Sep 2023 06:00:00 -0400
  Amyloid transthyretin (ATTR) amyloidosis caused by transthyretin misfolded into amyloid deposits in nerve and heart is a progressive rare disease. The unknown pathogenesis and the lack of therapy make the 5-year survival prognosis extremely poor. Currently available ATTR drugs can only relieve symptoms and slow down progression, but no drug has demonstrated curable effective for this disease. The growing volume of pharmacological data and large-scale genome and transcriptome data bring new...


• A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing Wed, 27 Sep 2023 06:00:00 -0400
  Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function. While recent clinical trials have been promising, there is still no cure for Barth Syndrome. Because TAZ is highly conserved, multiple animal and cell culture models exist for pre-clinical testing of therapeutics. However, since the same mutation in different...


• RBMX involves in telomere stability maintenance by regulating TERRA expression Wed, 27 Sep 2023 06:00:00 -0400
  Telomeric repeat-containing RNA (TERRA) is a class of long noncoding RNAs (lncRNAs) that are transcribed from subtelomeric to telomeric region of chromosome ends. TERRA is prone to form R-loop structures at telomeres by invading into telomeric DNA. Excessive telomere R-loops result in telomere instability, so the TERRA level needs to be delicately modulated. However, the molecular mechanisms and factors controlling TERRA level are still largely unknown. In this study, we report that the RNA...


• Genetic variation in environmental enteropathy and stunting in Zambian children: A pilot genome wide association study using the H3Africa chip Wed, 27 Sep 2023 06:00:00 -0400
  CONCLUSION: Genetic variations associated with stunting and the enteropathy underlying it, include variants associated with multiple pathways relating to gene expression, glycosylation, nerve signalling, and sensing of the nutritional and microbiological milieu.


• Effect of Hip Muscle Strengthening Exercises on Pain and Disability in Patients with Non-Specific Low Back Pain-A Systematic Review Wed, 27 Sep 2023 06:00:00 -0400
  Low back pain (LBP) is a health problem that affects 70-80% of the population in Western countries. Because of the biomechanical relationship between the lumbar region and the hip, it is thought that strengthening the muscles of this joint could improve the symptoms of people with LBP. The objective of this study is to evaluate the current evidence on the efficacy of hip strengthening exercises to reduce pain and disability in people with LBP. Clinical trials were collected from the PubMed,...


• Valoctocogene roxaparvovec (Roctavian) - a gene therapy for severe hemophilia A Wed, 27 Sep 2023 06:00:00 -0400
  No abstract


• Targeting the crosstalk of epigenetic modifications and immune evasion in nasopharyngeal cancer Wed, 27 Sep 2023 06:00:00 -0400
  Nasopharyngeal carcinoma (NPC) is a distinct type of head and neck cancer that is highly associated with Epstein-Barr virus (EBV) infection. EBV acts as an epigenetic driver in NPC tumorigenesis, reprogramming the viral and host epigenomes to regulate viral latent gene expression, and creating an environment conducive to the malignant transformation of nasopharyngeal epithelial cells. Targeting epigenetic mechanisms in pre-clinical studies has been shown promise in eradicating tumours and...


• MiR-7 deficiency promotes Th1 polarization of CD4⁺T cells and enhances the antitumor effect in adoptive cell therapy for lung cancer Wed, 27 Sep 2023 06:00:00 -0400
  Adoptive-cell-therapy (ACT) is important therapeutic approach against cancer. We previously showed that miR-7 deficiency endowed CD4^(+)T cells with hyperactivation status in liver injury. However, whether CD4^(+)T cells with miR-7 deficiency could elicit antitumor effect in ACT is still unclear. Naïve CD4^(+)CD62L^(hi) T cells were purified from CD45.2 WT or CD45.2 miR-7^(def) mice and transferred into syngeneic CD45.1WT mice bearing with lung tumor cells. The infiltration and function of T...


• ASO Author Reflections: Upfront Surgery Followed by Adjuvant Therapy: An Option for IIIA-N2 Non-small Cell Lung Cancer Wed, 27 Sep 2023 06:00:00 -0400
  No abstract


• Bleach baths enhance skin barrier, reduce itch but do not normalize skin dysbiosis in atopic dermatitis Wed, 27 Sep 2023 06:00:00 -0400
  Studies have demonstrated that bleach baths improve atopic dermatitis (AD) severity; however, the effects on itch, skin barrier, and cutaneous microbial composition are less clear. We examined whether bleach baths reduce itch, normalize skin barrier function, reduce S. aureus absolute abundance, and increase microbial diversity in adults with AD who were colonized with S. aureus on their non-lesional skin. This was an open label, non-randomized, controlled trial performed at a single academic...


• Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective Wed, 27 Sep 2023 06:00:00 -0400
  Comprehending the molecular basis of quantitative genetic variation is a principal goal for complex diseases or traits. Molecular quantitative trait loci (molQTLs) have made it possible to investigate the effects of genetic variants hiding behind large-scale omics data. A deeper understanding of molQTL is urgently required in light of the multi-dimensionalization of omics data to more fully elucidate the pertinent biological mechanisms. Herein, we reviewed molQTLs with the corresponding resource...


• Pediatric brain tumors Wed, 27 Sep 2023 06:00:00 -0400
  Pediatric central nervous system (CNS) tumors differ in their relative frequency, location, histology, biological behavior and prognosis from tumors in adults. Accurate neuropathological classification of CNS tumors is essential for therapeutic decisions and inclusion in therapy optimization studies. Tissue samples are analyzed by standardized conventional histological, immunohistological and molecular pathological methods and diagnosed according to the current World Health Organization (WHO)...


• Evaluating Variation in the Cardiac Management of Children with Hereditary Thoracic Aortic Disease in the United States Wed, 27 Sep 2023 06:00:00 -0400
  Hereditary thoracic aortic diseases (HTAD) such as Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), and vascular Ehlers-Danlos syndrome (VEDS) frequently result in complex cardiovascular pathology that can lead to premature death. However, given limited research and lack of detailed pediatric management guidelines, practice in the U.S. is largely guided by personal experience and/or advice from other professionals. A REDCap survey was composed that covered topics including genetic testing,...


• Update on leukodystrophies and developing trials Wed, 27 Sep 2023 06:00:00 -0400
  Leukodystrophies are a heterogeneous group of rare genetic disorders primarily affecting the white matter of the central nervous system. These conditions can present a diagnostic challenge, requiring a comprehensive approach that combines clinical evaluation, neuroimaging, metabolic testing, and genetic testing. While MRI is the main tool for diagnosis, advances in molecular diagnostics, particularly whole-exome sequencing, have significantly improved the diagnostic yield. Timely and accurate...


• Pathogenomics model for personalized medicine in cervical cancer: Cross-talk of gene expressions and pathological images related to oxidative stress Wed, 27 Sep 2023 06:00:00 -0400
  An increasing number of studies have shown that oxidative stress plays an important role in the development and progression of cancer. Cervical cancer (CC) is a disease of unique complexity that tends to exhibit high heterogeneity in molecular phenotypes. We aim here to characterize molecular features of cervical cancer by developing a classification system based on oxidative stress-related gene expression profiles. In this study, we obtained gene expression profiling data for cervical cancer...


• A putative lipase affects Pseudomonas aeruginosa biofilm matrix production Wed, 27 Sep 2023 06:00:00 -0400
  Pseudomonas aeruginosa is an opportunistic pathogen that is widely known for infecting patients with underlying conditions. This species often survives antibiotic therapy by forming biofilms, in which the cells produce a protective extracellular matrix. P. aeruginosa also produces virulence factors that enhance its ability to cause disease. One signaling pathway that influences virulence is the nitrogen-related phosphotransferase system (Nitro-PTS), which consists of an initial...