Inflammatory Gene Panel Guiding the Study of Genetics in Inflammatory Bowel Disease
This article analyzes this panel and reviews the literature for each gene ’s effect in IBD for use as a framework to review the pathophysiology of the disease. The panel was narrowed to 26 genes with significant evidence of mechanistic potential in IBD, which were then categorized into specific areas of pathogenesis. These include gut barrier breakdown, inappropriate re cognition of commensal bacteria, immune cell activation, proinflammatory cytokine release, and subsequent impairment of the anti-inflammatory response. The eventual goal of this paper is the creation of a customized panel of IBD genes that can be used to ...
Source: Molecular Diagnosis and Therapy - April 18, 2024 Category: Molecular Biology Source Type: research
Lifileucel: First Approval
This article summarizes the milestones in the development of lifileucel leading to this first approval for the treatment of patients with unresectable or metastatic melanoma who have progressed on or after prior anti-PD-1/L1 therapy and targeted therapy. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 16, 2024 Category: Molecular Biology Source Type: research
Estimating the Prognostic Value of the NTRK Fusion Biomarker for Comparative Effectiveness Research in The Netherlands
ConclusionsNTRK+ patients may have an increased risk of death compared withNTRK − patients. When using historic control data to assess the comparative effectiveness of TRK inhibitors, the prognostic value of theNTRK fusion biomarker should therefore be accounted for. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 14, 2024 Category: Molecular Biology Source Type: research
Comment on “Prognostic Value of Programmed Death Ligand-1 Expression in Solid Tumors Irrespective of Immunotherapy Exposure: A Systematic Review and Meta‑Analysis”
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 10, 2024 Category: Molecular Biology Source Type: research
Molecular Dynamic Simulations to Determine Individualized Therapy: Tetrabenazine for the GNAO1 Encephalopathy E246K Variant
AbstractIntroductionGNAO1 encephalopathy is characterized by severe hypotonia, psychomotor retardation, epilepsy, and movement disorders. Genetic variations inGNAO1 have been linked to neurological symptoms including movement disorders like dystonia. The correlation between the E246K mutation in the G α subunit and aberrant signal transduction of G proteins has been established but no data are reported regarding the efficacy of medical treatment with tetrabenazine.MethodsMolecular modeling studies were performed to elucidate the molecular mechanisms underlying this mutation. We developed drug efficacy models using molecul...
Source: Molecular Diagnosis and Therapy - April 6, 2024 Category: Molecular Biology Source Type: research
Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience
ConclusionSomatic and germline mutations were identified in 36.4% and 33.3 % of theJAK2-unmutated group; most variants had unknown clinical significance. Not all genetic causes have been identified; comprehensive diagnostic approaches are crucial for identifying the cause of erythrocytosis. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 3, 2024 Category: Molecular Biology Source Type: research
Advances in Radioligand Theranostics in Oncology
AbstractTheranostics with radioligands (radiotheranostics) has played a pivotal role in oncology. Radiotheranostics explores the molecular targets expressed on tumor cells to target them for imaging and therapy. In this way, radiotheranostics entails non-invasive demonstration of the in vivo expression of a molecular target of interest through imaging followed by the administration of therapeutic radioligand targeting the tumor-expressed molecular target. Therefore, radiotheranostics ensures that only patients with a high likelihood of response are treated with a particular radiotheranostic agent, ensuring the delivery of ...
Source: Molecular Diagnosis and Therapy - March 31, 2024 Category: Molecular Biology Source Type: research
In vivo LNP-CRISPR Approaches for the Treatment of Hemophilia
AbstractHemophilia is a genetic disorder that is caused by mutations in coagulation factor VIII (hemophilia A) or IX (hemophilia B) genes resulting in blood clotting disorders. Despite advances in therapies, such as recombinant proteins and products with extended half-lives, the treatment of hemophilia still faces two major limitations: the short duration of therapeutic effect and production of neutralizing antibodies against clotting factors (inhibitor). To overcome these limitations, new hemophilia treatment strategies have been established such as gene therapy, bispecific antibody, and rebalancing therapy. Although thes...
Source: Molecular Diagnosis and Therapy - March 28, 2024 Category: Molecular Biology Source Type: research
Unwinding Helicase MCM Functionality for Diagnosis and Therapeutics of Replication Abnormalities Associated with Cancer: A Review
AbstractThe minichromosome maintenance (MCM) protein is a component of an active helicase that is essential for the initiation of DNA replication. Dysregulation of MCM functions contribute to abnormal cell proliferation and genomic instability. The interactions of MCM with cellular factors, including Cdc45 and GINS, determine the formation of active helicase and functioning of helicase. The functioning of MCM determines the fate of DNA replication and, thus, genomic integrity. This complex is upregulated in precancerous cells and can act as an important tool for diagnostic applications. The MCM protein complex can be an im...
Source: Molecular Diagnosis and Therapy - March 26, 2024 Category: Molecular Biology Source Type: research
Identification of Plasmatic MicroRNA-206 as New Predictor of Early Recurrence of Atrial Fibrillation After Catheter Ablation Using Next-generation Sequencing
ConclusionWe have identified a set of 22 plasmatic miRNAs that differ between the patients with and without AF recurrence after CA and confirmed hsa-miR-206 as a novel miRNA associated with early AF recurrence. Results shall be verified in a larger independent cohort.Graphical AbstractGraphical abstract summarizing the study design and results (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 8, 2024 Category: Molecular Biology Source Type: research
Lutetium-177 Labelled Anti-PSMA Monoclonal Antibody (Lu-TLX591) Therapy for Metastatic Prostate Cancer: Treatment Toxicity and Outcomes
ConclusionLu-TLX591 was safely administered at acceptable toxicity and its efficacy reflects previous clinical trials. Larger studies are required and are underway (NCT04786847; NCT05146973; NCT04876651) to determine Lu-TLX591 effectiveness amongst different prostate cancer populations and compare its efficacy against peptide-based radiopharmaceutical agents. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 6, 2024 Category: Molecular Biology Source Type: research
Comment on “Prognostic and Clinical Significance of Human Leukocyte Antigen Class I Expression in Breast Cancer: A Meta‑Analysis”
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 20, 2024 Category: Molecular Biology Source Type: research
ADORA3: A Key Player in the Pathogenesis of Intracranial Aneurysms and a Potential Diagnostic Biomarker
ConclusionsHigh expression ofADORA3 is associated with IAs pathogenesis, likely through its promotion of VSMC autophagy. Furthermore, bloodADORA3 levels have the potential to serve as an auxiliary diagnostic biomarker for IAs. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 11, 2024 Category: Molecular Biology Source Type: research
Chimeric Genes Causing 11 β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis
AbstractDeficiency of 11 β-hydroxylase (11β-OHD) is the second most common cause of congenital adrenal hyperplasia (CAH), accounting for 0.2–8% of all cases. The disease is transmitted as an autosomal recessive trait and the underlying genetic causes of 11β-OHD are primarily small pathogenic variants affecting theCYP11B1 gene coding the 11 β-hydroxylase enzyme. However, special events complicate the molecular diagnosis of 11β-OHD such as an unequal crossing over between theCYP11B2 (coding aldosterone synthase enzyme) andCYP11B1 genes. The resulting allele contains a hybrid gene, with aCYP11B2 5 ′-end and aCYP11B1 ...
Source: Molecular Diagnosis and Therapy - February 7, 2024 Category: Molecular Biology Source Type: research
Clostridium Bacteria: Harnessing Tumour Necrosis for Targeted Gene Delivery
AbstractNecrosis is a common feature of solid tumours that offers a unique opportunity for targeted cancer therapy as it is absent from normal healthy tissues. Tumour necrosis provides an ideal environment for germination of the anaerobic bacteriumClostridium from endospores, resulting in tumour-specific colonisation. Two main species,Clostridium novyi-NT andClostridium sporogenes, are at the forefront of this therapy, showing promise in preclinical models. However, anti-tumour activity is modest when used as a single agent, encouraging development ofClostridium as a tumour-selective gene delivery system. Various methods, ...
Source: Molecular Diagnosis and Therapy - February 2, 2024 Category: Molecular Biology Source Type: research
