Genetic Variants in Panamanian Patients with Hereditary Cardiomyopathies
Abstract
Volume 10,Issue 2
Genetic Variants in Panamanian Patients with Hereditary CardiomyopathiesAbstract Hereditary Cardiomyopathies (HCs) are defined as genetically determined cardiovascular diseases (CVDs) that frequently exhibit a familial inheritance pattern. These conditions include cardiomyopathies (CMs), arrhythmias (ARs), and other inherited cardiovascular syndromes. In Panama, the national incidence of Hereditary Cardiomyopathies remains unknown. The objective was to identify genetic variants in Panamanian patients diagnosed with HCs or cardiac arrhythmias and subsequently to identify carr [...] |
Clinical and Molecular Cytogenetic Characterization of a De Novo 3q26.33-q28 Duplication: Case Report and Literature Reviewby
Abstract Isolated duplications of the long arm of chromosome 3 (3q) are rare chromosomal abnormalities. To date, approximately 32 pure cases have been documented. Most reported 3q duplications arise from unbalanced translocations or inversion-loops mechanisms and are associated with additional chromosomal imbalances, making pure duplications particularly valuable for genotype-phenotype correlations. We report a 17-year-old female with a de novo pure tandem duplication of 3q26.33-q28 [...] |
A Multi-Omics Panorama of Acute Myeloid Leukemia: From Molecular Hallmarks to Clinical Translationby
Abstract Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy with genetic and clinical characteristics. Recent advances in multi-omic technologies, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, immunomics, microbiome profiling, and both spatial and single-cell analyses, have greatly enhanced our understanding of AML pathobiology. Substantial multi-omic studies show that recurrent driver mutations not only impart traditional genomic lesions but also partici [...] |
Latest Approaches in Cancer Therapy and Remaining GapsAbstract Cancer remains one of the major global challenges due to its complex and heterogeneous molecular nature across individuals. Recent advances in technology have enhanced the understanding of cancer’s molecular mechanisms, paving the way for the development of effective therapeutics. These include small-molecule inhibitors and monoclonal antibodies, used to interfere with the oncogenic signaling pathways. Immunotherapy has also emerged as a promising area in cancer therapy, with approaches such as [...] |
Clinical Variabilities of PTPN11 Pathogenic Variant in Indonesian Noonan Syndrome Patientsby
Abstract Noonan syndrome (NS) is an autosomal dominant disorder with a wide spectrum of symptoms and clinical phenotypes, including short stature, congenital heart defects (CHD), and distinctive facial features. A pathogenic variant in the PTPN11 gene is the major cause of NS. This is a preliminary study in Indonesia involving 29 patients with clinical features of NS. Detailed clinical and echocardiography data were collected. Genomic DNA was extracted from a peripheral blood sample. E [...] |
Climate Change-Induced Stress and Neural Plasticity: Genetic and Epigenetic Mechanisms of Adaptationby
Abstract Changes in the environment driven by climate change are becoming significant stressors that impact brain function, but the connections between these changes and neural plasticity remain unclear. This review aims to offer a comprehensive synthesis of the impact of climate-related stressors on neural plasticity via genetic and epigenetic mechanisms. A structured literature search (2000-2025) was conducted using PubMed, Scopus, and Web of Science, integrating evidence from in vitro, animal, and hum [...] |
A Novel Missense Variant in the CDH23 Gene is Segregated in an Iranian Family with Hearing Lossby
Abstract Sensorineural hearing loss (SNHL) describes a diverse group of clinically and genetically distinct disorders of the auditory system. SNHL is associated with mutations in up to 150 genes. Among them is Cadherin 23 (CDH23), which is associated with both Usher syndrome and non-syndromic hearing loss. In the current study, we used WES to find the genetic cause of SNHL in an extended Iranian family. WES and subsequent Sanger sequencing confirmed the occurrence of a novel homozygo [...] |
A Case of Prenatal Diagnosis of Apert Syndrome in the Second Trimester of Pregnancyby
Abstract Craniosynostosis is a disorder characterized by premature closure of cranial sutures, resulting in restricted skull growth perpendicular to the affected suture and compensatory growth in other directions. Over 180 syndromes have been classified under craniosynostosis, of which eight are associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene: isolated coronal synostosis, Pfeiffer syndrome, Crouzon syndrome, Apert syndrome, Beare–Stevens syndrome, Ja [...] |
Complete Chloroplast Genome of Rauvolfia tetraphylla (Gentianales: Apocynaceae) and Phylogenetic AnalysisAbstract Rauvolfia tetraphylla L. (1753) is an important medicinal species of Apocynaceae, widely used for its rich indole alkaloids and related bioactive compounds. We report the first complete chloroplast genome of R. tetraphylla. The genome exhibits a typical circular quadripartite structure of 155,667 bp, with an overall GC content of 37.8%. The genome comprises a large single-copy (LSC) region of 86,332 bp, a small single-copy (SSC) region of 17,853 bp, and [...] |
Comprehensive Cytogenetic and ISSR Analysis in the Context of Conservation of the Local Breed of Brown Carpathian Cattle BreedAbstract The article reveals the variability of the genome of cattle of the local small-numbered domestic Brown Carpathian breed using cytogenetic and molecular genetic polylocus markers, and justifies the need to integrate local breeds into the modern system of agricultural production in accordance with FAO requirements. The work aimed to study the genetic uniqueness of cows of the brown Carpathian breed using cytogenetic and molecular genetic markers. The karyotype of the animals corresponded to the sp [...] |
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