A Case of Prenatal Diagnosis of Apert Syndrome in the Second Trimester of Pregnancy
Abstract
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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, Jackson–Weiss syndrome, Crouzon syndrome wi [...] 297 970 |
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 a pair of inverted repeat (IR) regions of 25,741 bp each. A to [...] 440 1243 |
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 species norm and was 2 [...] 323 1080 |
Challenges and Ethical Issues Related to Non-Invasive Prenatal Testing (NIPT)by
Abstract
Non-invasive prenatal testing (NIPT) is now standard in prenatal care in many countries, even though it was introduced only about 15 years ago. Due to its rapid adoption into decades-old prenatal care plans, gynecologists, obstetricians, and the general public still struggle to understand the possibilities, benefits, and limitations of NIPT. The biggest challenge facing NIPT is that comprehensive training for healthcare professionals and independent, unbiased information for pregnant women and their families about [...] 748 2632 |
Assessment of Genetic Diversity and Polymorphism in Corylus avellana L. Pollen by Inter-Primer Binding Site Marker AnalysisAbstract
Genetically conditioned variation in pollen has been demonstrated to have a substantial influence on reproductive mechanisms and population dynamics. The present study evaluated the genetic variability of 28 pollen samples of Corylus avellana L. using iPBS (Inter Primer Binding Sites Polymorphism) markers 1882 and 2152. The collection of biological material was undertaken at various locations across five European countries, with the objective of capturing a broad spectrum of environmental conditions. The genetic re [...] 370 1188 |
Evaluation of Ten Bread Wheat (Triticum aestivum) Cultivars and Five of Their Hybrids under Salinity Stress at Germination and Seedling Stageby
Abstract
Salinity poses a danger to food security; hence, it is necessary to create crop types that can withstand salt to meet the growing demand for food. The goal of the current study was to examine the morphological and biochemical responses of wheat (Triticum aestivum L.) genotypes under salt stress. Salt tolerance in ten wheat cultivars and five selected F1 hybrids was assessed at the germination and seedling stage. Genotypes were assessed for seven traits under control (0 mM NaCl) and salinity stress (150, 200, and 25 [...] 357 1324 |
Insights from Stem Cell and CRISPR-Based Therapies for Diabetes Mellitus: A Systematic ReviewAbstract
Diabetes mellitus (DM) is a metabolic disorder resulting from aberrations in insulin secretion or action. Diabetes mellitus still presents as a global health challenge. Conventional diabetes treatment may result in unwanted side effects and/or poor compliance. More personalized and curative approaches to the treatment of DM are required. The review explores recent developments in the fields of genetic and molecular underpinnings of DM, focusing on the revolutionary potential of cell- and Clustered Regularly Intersp [...] 1004 4393 |
Determining the Role of KRAS in Patients with Different Demographic Profiles Diagnosed with Diabetes Mellitus: A Case-Control Studyby
Abstract
Diabetes mellitus (DM) is widely spread among populations. About 3 of 10 people show the symptoms of this disease. Many factors may cause this illness in both types (type 1 and type 2 DM), mainly attributed to insufficient insulin production in type 1 DM or developing insulin resistance in type 2 DM. Genes that control specific biochemical pathways involving glucose metabolism can interfere with the manifestation of this disease when they undergo genetic changes like KRAS. Investigating the role of KRAS in DM. Abou [...] 357 1132 |
Unraveling the Role of Non-Coding Genetic Variants in Male Infertility: Insights from the Chinese PopulationAbstract
Male infertility is a growing concern worldwide, with almost half of infertility cases being male, and the trend is rising in China as a result of multifaceted genetics-environment interaction. Important breakthroughs have been made in identifying mutations in annotated protein-coding genes associated with male infertility. However, a significant part of the human genome, namely non-coding DNA, has not yet been explored. Recent breakthroughs in the realm of high-throughput genomic technologies have unveiled the ind [...] 454 1667 |
Analysis of Leukocyte Telomere Length in Brazilian People Living with HIV with and Without Cancerby
Abstract
Advances in antiretroviral therapy (ART) have normalized the life expectancy of people living with HIV (PLWH) but have been linked to a premature presentation of age-related comorbidities, including cancer. Telomere length (TL) is a marker of cellular aging and was investigated in blood leukocytes from 78 PLWH on ART, compared with 163 HIV-uninfected controls. The PLWH group was stratified into three subgroups: HIV-only (n = 57), HIV with AIDS-defining cancer (ADC, n = 9), and HIV with NADC (n = 12). Quantitative p [...] 732 1695 |
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