Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Abstract
Open Access
ISSN 2577-5790
© 2025 by the authors; CC BY 4.0 licence
OBM Genetics , Volume 9 , Issue 3 (2025)
Pages: 207
Published: November 2025
(This book is a printed edition that was published in OBM Genetics)
Cover Story: In this study, we evaluated twenty-six mungbean genotypes for yield-attributing traits and salinity stress tolerance. A few promising genotypes were identified that can be used for future mungbean breeding program. Lipid peroxidation and hydrogen peroxide were identified as potential biomarkers for salinity stress tolerance in mungbean. View this paper.
Volume 9,Issue 3
Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorderby
Abstract Netherton syndrome is a rare autosomal recessive disorder caused by mutations in the SPINK5 gene, leading to LEKTI protein dysfunction, impaired skin barrier function, and immune dysregulation. It manifests as a triad of ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), and atopic diathesis, often mimicking other inflammatory dermatoses. We report a 9-month-old Javanese Indonesian male infant presenting with extensive erythematous, scaly skin lesions and se [...] |
Association of Dopamine D2 Receptor (DRD2) C939T and a Lack of Association of Tumor Necrosis Factor-β (TNF-β) +A252G Polymorphisms with Susceptibility to Migraine in A Northern Iranian PopulationAbstract Genetic factors including TNF-β and DRD2 have been considered as essential components in the etiology of migraine. Several studies have investigated the association between TNF-β +A252G or DRD2 C939T polymorphisms and migraine risk, with debatable results. We aimed to examine whether TNF-β +A252G and DRD2 C939T polymorphisms confer genetic susceptibility to migraine in a Northern Iranian case-control sample. In total, 151 migraineurs (105 with MO 46 with MA) and 144 healthy control subjects were [...] |
The Homozygous c.612C>G Mutation in C1QBP is Associated with Late-Onset Progressive External Ophthalmoplegiaby
Abstract Biallelic pathogenic variants in C1QBP are an infrequent, yet increasingly recognised, cause of progressive external ophthalmoplegia (PEO). Although most published cases include cardiomyopathy, isolated late‑onset PEO without cardiac disease remains exceptional. To characterise, for the first time, a Moldavian‑Ukrainian pedigree in which homozygous c.612C>G (p.Phe204Leu) in C1QBP causes autosomal‑recessive PEO in the absence of cardiomyopathy, thereby expanding the phenotypic spectrum of [...] |
Plant-Derived Nanoparticles in Cancer Therapy: A Comprehensive Review of Recent Advances and Future ProspectsAbstract Cancer continues to be one of the leading causes of global death, and conventional therapies have limited efficacy because of their toxicity, drug resistance, and off-target effects. Plant-derived nanoparticles (PDNPs) have emerged as suitable alternatives as they have biocompatibility, biodegradability, and multifunctional therapy. In this review, we discussed the recent advancements in PDNPs for cancer therapy, including the green synthesis of PDNPs using phytochemical (flavonoids, terpenoids) [...] |
Trends in Breast Cancer Epigenetics Research from 1993 to 2023: A Bibliometric AnalysisAbstract Breast cancer is a significant health problem. Epigenetic alterations that influence gene expression were implicated in breast cancer pathogenesis. Bibliometric analysis can be done to evaluate the existing literature and identify gaps and emerging trends. This bibliometric analysis aims to provide an overview of the current landscape of global breast cancer epigenetics research, identify existing networks of countries and authors’ keywords, and assess the association of a country& [...] |
Morpho-Biochemical Characterization and Genetic Analyses of the Traits of Mungbean Genotypes Confined with Yield Attributing Traits and Salinity Stress Toleranceby
Abstract Low phenotypic and genotypic variability for yield-attributing traits and susceptibility to salinity stress are constraints of mungbean productivity. The objectives of the study are to phenotype a set of exotic mungbean genotypes for yield-attributing traits and salinity tolerance, as well as to conduct genetic analysis of these traits for efficient selection. Three consecutive experiments were conducted to fulfill these objectives. In the first experiment, 26 mungbean genotypes were evaluated f [...] |
Effects of Plastoquinone Derivative 10-(6'-Plastoquinonyl) Decyltriphenylphosphonium on Rice Seeds Grown under Complete Flooding Conditionsby
Abstract The present work aimed to study the effects of 10-(6'-plastoquinonyl) decyltriphenylphosphonium (SkQ1) on rice (Oryza sativa) plants germinating under flooding conditions. The influence of different concentrations of SkQ1 (mitochondria-targeted antioxidant) on resistance to complete flooding was assessed on rice seedlings of the Kuboyar variety. The total level of reactive oxygen species (ROS), H2O2-induced chemiluminesce [...] |
Leveraging DNA Databases to Reconnect Families Separated by Conflicts and Humanitarian CrisesAbstract Ongoing global conflicts and humanitarian crises have led to unprecedented displacement, including millions of separated children, many of whom, especially infants, cannot be traced using traditional methods. This paper advocates for the establishment of a voluntary, privacy-protected global DNA database, managed by an extra-governmental entity, to facilitate family reunification. It presents a comprehensive socio-technical framework that synthesizes a novel operational model with the requisite [...] |
Impact of Normalization Methods on Metagenomic Characterization of Amaranthus Cruenthus var. Pribina-Associated Microbiomes Under Cadmium StressAbstract The study of endophytic and rhizosphere microbiota offers considerable potential for applications in agriculture, biotechnology, and bioremediation, given the phytoremediation capacity of Amaranthus cruentus var. Pribina performed a detailed analysis of the root and rhizosphere microbial communities under cadmium (Cd) stress. Although metagenomics provides powerful tools for microbial community profiling, the reproducibility and interpretability of the results are strongly inf [...] |
Evaluation of Polylocus Spectra of DNA Fragments of the Genus Eguus Using ISSR-PCR MarkersAbstract Characterization of the non-coding part of the transcriptome is a supplement to the annotation of the genome of living organisms. According to ISSR-fingerprinting data, information is obtained about ancient gene pools, modern gene pools, genetic variability and conservation of breeds and species of farm animals. The aim of the study is to study the molecular genetic component and phylogenetic relationships in the aboriginal Hutsul horse breed and fossil rema [...] |
Serum Shock Enhances Endogenous Melatonin Production and Mitochondrial Gene Regulation in U87-MG Glioblastoma Cellsby
Abstract Glioblastoma (GBM) is the most aggressive primary brain tumor, with a poor prognosis despite advancements in understanding its biology. Melatonin, a key regulator of metabolism and cellular homeostasis, is known for its neuroprotective and anti-cancer properties. While traditionally linked to pineal gland secretion, emerging evidence suggests that glioblastoma cells can produce melatonin within their mitochondria. This study investigates whether serum shock can influence endogenous melatonin pro [...] |
Gut Microbial Similarity Analysis in Mono and Dizygotic Twins Discordant for Down Syndromeby
Abstract To investigate the potential impact of the additional chromosome 21 on the gut microbiome in patients with Down syndrome (DS), two monozygotic (MZ) and two dizygotic (DZ) twin pairs discordant for DS were studied. Whole-genome shotgun sequencing was conducted to analyze the taxonomic and functional profiles of the gut microbial community in the twins and assess whether the gut microbiome composition influences the development of psychological pathologies. Sequencing generated a total of 2,338,13 [...] |
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