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Genes, Volume 16, Issue 3

March 2025 - 119 articles

Cover Story: Fragile X syndrome (FXS) arises from CGG-repeat expansion-induced epigenetic silencing of FMR1, guided by its own nascent RNA. 5-aza-deoxycytidine (5-aza-dC) reactivates FMR1 by inhibiting DNA methylation, but withdrawal causes resilencing. We show that 2HE-5NMe, an RNA-binding small molecule, prevents resilencing by blocking CGG-repeat RNA from forming RNA-DNA hybrids, which trigger silencing. This sustains the FMR1 expression, restores FMRP, and reverses dendritic spine defects. Unlike broad epigenetic drugs, 2HE-5NMe enables gene-specific control. This study demonstrates the potential of developing RNA-targeted small molecules for epigenetic therapy in FXS and similar disorders. View this paper
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Articles (119)

  • Article
  • Open Access
3 Citations
2,082 Views
12 Pages

Cross-Kingdom Communication via Plant-Derived Extracellular Vesicle Nucleic Acids in Genetically Engineered Nicotiana tabacum

  • Lorena Urbanelli,
  • Federica Delo,
  • Giada Cerrotti,
  • Emidio Albertini,
  • Jacopo Lucci,
  • Sandra Buratta,
  • Eleonora Calzoni,
  • Stefano Giovagnoli,
  • Luana Lugini and
  • Cristina Federici
  • + 3 authors

20 March 2025

Background/Objectives: Plants release extracellularly lipid bilayer-enclosed vesicles of nanometric size that can be retrieved in their fluids. Plant-derived extracellular vesicles (PDEVs) have mostly been involved in modulating host–pathogen i...

  • Article
  • Open Access
947 Views
14 Pages

20 March 2025

Background/Objectives: To date, no information is available on the complete mitochondrial genome of the genus Dianema (Siluriformes: Callichthyidae), a callichthyid catfish. In this study, we report on two complete mitochondrial genome sequences of D...

  • Case Report
  • Open Access
1,366 Views
10 Pages

Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype

  • Rossana Santiago de Sousa Azulay,
  • Alexandre Nogueira Facundo,
  • Sarah Sousa e Sousa,
  • Gilvan Cortes Nascimento,
  • Marcelo Magalhães,
  • Clariano Pires de Oliveira Neto,
  • Joana D’arc Matos França de Abreu,
  • Débora Cristina Ferreira Lago,
  • Sabrina da Silva Pereira Damianse and
  • Viviane Chaves de Carvalho
  • + 5 authors

20 March 2025

Background: Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessive disorders characterized by impaired cortisol synthesis in the adrenal glands. Over 90% of CAH cases result from a deficiency of the enzyme 21-hydroxylase (21OH...

  • Article
  • Open Access
971 Views
14 Pages

19 March 2025

Background: Nibribacter radioresistens, a UV and gamma radiation-tolerant bacterium, was reported to have superior antibacterial activities against a variety of pathogenic bacteria through the production of antimicrobial peptides (AMPs), but nothing...

  • Article
  • Open Access
1 Citations
1,781 Views
10 Pages

Genetic Diversity and Forensic Parameters of 27 Y-STRs in Two Mestizo Populations from Western Mexico

  • Astrid Desireé Sánchez-Méndez,
  • Silvia Elena Narvaez-Rivera,
  • Héctor Rangel-Villalobos,
  • Jorge Hernández-Bello,
  • Andrés López-Quintero,
  • José Miguel Moreno-Ortíz,
  • Benito Ramos-González and
  • José Alonso Aguilar-Velázquez

19 March 2025

Background: Analyzing Y-chromosome short tandem repeats (Y-STRs) is essential in forensic genetics and population studies. The Yfiler™ Plus kit, which includes 27 Y-STR markers, enhances the discrimination power for forensic and kinship applica...

  • Article
  • Open Access
1 Citations
2,352 Views
18 Pages

SARS-CoV-2 Genetic Variants Identified in Selected Regions of Ethiopia Through Whole Genome Sequencing: Insights from the Fifth Wave of COVID-19

  • Getnet Hailu,
  • Mengistu Legesse,
  • Andargachew Mulu,
  • Girmay Medhin,
  • Mesfin Mengesha Tsegaye,
  • Dawit Hailu Alemayehu,
  • Abaysew Ayele,
  • Atsbeha Gebreegziabxier,
  • Adamu Tayachew and
  • Adimkewu Aguine
  • + 7 authors

18 March 2025

Background: The COVID-19 pandemic highlighted SARS-CoV-2 variants with increased transmissibility and immune evasion. In Ethiopia, where cases surged, the understanding of the virus’s dynamics was limited. This study analyzed SARS-CoV-2 variant...

  • Article
  • Open Access
1,014 Views
14 Pages

18 March 2025

(1) Background: Hippophae gyantsensis, a drought-tolerant plant native to the Tibetan Plateau, plays a crucial ecological and economic role. While its drought tolerance mechanisms have been extensively studied, the role of alternative splicing (AS) i...

  • Review
  • Open Access
4 Citations
3,340 Views
31 Pages

Circulating microRNAs as Potential Biomarkers of Overweight and Obesity in Adults: A Narrative Review

  • Francisca Villagrán-Silva,
  • Pía Loren,
  • Cristian Sandoval,
  • Fernando Lanas and
  • Luis A. Salazar

17 March 2025

In an obesogenic environment, such as the one we have been experiencing in recent decades, epigenetics provides answers to the relationship between hereditary and environmentally acquired patterns that have significantly contributed to the global ris...

  • Article
  • Open Access
3 Citations
2,733 Views
18 Pages

17 March 2025

Background/Objectives: Limosilactobacillus fermentum KUB-D18, a heterofermentative lactic acid bacterium with promising probiotic properties, is known for promoting gut health and nutrient absorption. Originally isolated from chicken intestines,...

  • Review
  • Open Access
2,618 Views
18 Pages

Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review

  • Khaled K. Abu-Amero,
  • Bashaer Almadani,
  • Shereen Abualkhair,
  • Syed Hameed,
  • Altaf A Kondkar,
  • Andrea Sollazzo,
  • Angeli Christy Yu,
  • Massimo Busin and
  • Giorgio Zauli

17 March 2025

Mitochondria are vital organelles responsible for ATP production and metabolic regulation, essential for energy-intensive cells such as retinal ganglion cells. Dysfunction in mitochondrial oxidative phosphorylation or mitochondrial DNA (mtDNA) pathog...

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Genes - ISSN 2073-4425