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Genes, Volume 16, Issue 3

2025 March - 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
9 Citations
4,016 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 and ,
  • Jacopo Lucci,
  • Sandra Buratta,
  • Eleonora Calzoni,
  • Stefano Giovagnoli,
  • Luana Lugini and
  • Carla Emiliani
  • + 8 authors+ 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...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
1 Citations
1,479 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...

(This article belongs to the Special Issue Mitochondrial DNA Replication and Transcription)
  • Case Report
  • Open Access
2,905 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 and ,
  • Marcelo Magalhães,
  • Clariano Pires de Oliveira Neto,
  • Joana D’arc Matos França de Abreu,
  • Débora Cristina Ferreira Lago,
  • Sabrina da Silva Pereira Damianse and
  • Manuel dos Santos Faria
  • + 10 authors+ 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...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
1 Citations
1,520 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...

(This article belongs to the Section Microbial Genetics and Genomics)
  • Article
  • Open Access
4 Citations
3,664 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 and ,
  • Andrés López-Quintero,
  • José Miguel Moreno-Ortíz,
  • Benito Ramos-González and
  • José Alonso Aguilar-Velázquez
  • + 3 authors+ 0 author

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...

(This article belongs to the Special Issue The Genetic Diversification of Human Populations)
  • Article
  • Open Access
2 Citations
4,064 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 and ,
  • Mesfin Mengesha Tsegaye,
  • Dawit Hailu Alemayehu,
  • Abaysew Ayele,
  • Atsbeha Gebreegziabxier,
  • Adamu Tayachew and
  • Molalegne Bitew
  • + 12 authors+ 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...

(This article belongs to the Section Viral Genomics)
  • Article
  • Open Access
4 Citations
1,700 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...

(This article belongs to the Section Genes & Environments)
  • Review
  • Open Access
19 Citations
5,730 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...

(This article belongs to the Section RNA)
  • Article
  • Open Access
5 Citations
4,730 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,...

(This article belongs to the Section Bioinformatics)
  • Review
  • Open Access
6 Citations
4,879 Views
18 Pages

Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review

  • Khaled K. Abu-Amero,
  • Bashaer Almadani,
  • Shereen Abualkhair,
  • Syed Hameed and ,
  • Altaf A Kondkar,
  • Andrea Sollazzo,
  • Angeli Christy Yu,
  • Massimo Busin and
  • Giorgio Zauli
  • + 4 authors+ 0 author

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...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
1,956 Views
27 Pages

17 March 2025

Background: Liver cancer, specifically hepatocellular carcinoma (LIHC), ranks as the second most common cause of cancer-related fatalities globally. Moreover, the occurrence rate of LIHC is steadily increasing. A recently identified gene, SPSB2, has...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Review
  • Open Access
9 Citations
7,396 Views
18 Pages

Clinical Significance of Early-Onset Alzheimer’s Mutations in Asian and Western Populations: A Scoping Review

  • Prevathe Poniah,
  • Aswir Abdul Rashed,
  • Julaina Abdul Jalil and
  • Ernie Zuraida Ali

17 March 2025

Background/Objectives: Background: Early-onset Alzheimer’s disease (EOAD) is primarily inherited in an autosomal dominant pattern, with mutations in the APP, PSEN1, and PSEN2 genes being central contributors. Diagnosing Alzheimer’s poses...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
4 Citations
1,478 Views
12 Pages

Analysis of WRKY Gene Family in Acer fabri and Their Expression Patterns Under Cold Stress

  • Gongwei Chen,
  • Yixiao Zhou,
  • Dandan Zhang,
  • Fengyuan Chen and ,
  • Xuyang Qin,
  • Hongyu Cai,
  • Heng Gu,
  • Yuanzheng Yue,
  • Lianggui Wang and
  • Guohua Liu
  • + 5 authors+ 0 author

17 March 2025

Background/Objectives: The WRKY gene family plays a critical role in plant stress responses; however, its function in Acer fabri (A. fabri) under cold stress conditions remains poorly understood. This study aims to identify WRKY genes in A. fabri, an...

(This article belongs to the Section Plant Genetics and Genomics)
  • Review
  • Open Access
7 Citations
5,184 Views
18 Pages

Detection of mRNA Transcript Variants

  • Kevin Vo,
  • Sharmin Shila,
  • Yashica Sharma,
  • Grace J. Pei and ,
  • Cinthia Y. Rosales,
  • Vinesh Dahiya,
  • Patrick E. Fields and
  • M. A. Karim Rumi
  • + 3 authors+ 0 author

16 March 2025

Most eukaryotic genes express more than one mature mRNA, defined as transcript variants. This complex phenomenon arises from various mechanisms, such as using alternative transcription start sites and alternative post-transcriptional processing event...

(This article belongs to the Section RNA)
  • Review
  • Open Access
8 Citations
5,467 Views
12 Pages

15 March 2025

Background: The human leukocyte antigen (HLA) system represents the most polymorphic segment within human DNA sequences and constitutes a core component of immune defense responses and in understanding population genetics. This research investigates...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Review
  • Open Access
2 Citations
3,812 Views
19 Pages

MYOSLID: A Critical Modulator of Cancer Hallmarks

  • Kanupriya Medhi,
  • Sagarika Mukherjee,
  • Aastha Dagar,
  • Ashutosh Kumar Tiwari and ,
  • Sia Daffara,
  • Sanjana Bana,
  • Vivek Uttam,
  • Md Rizwan Ansari,
  • Vikas Yadav and
  • Aklank Jain
  • + 6 authors+ 1 author

14 March 2025

Despite being the leading cause of death worldwide, cancer still lacks precise biomarkers for effective targeting, limiting efforts to reduce mortality rates. This review explores the role and clinical significance of a newly identified long non-codi...

(This article belongs to the Section RNA)
  • Article
  • Open Access
8 Citations
2,771 Views
23 Pages

14 March 2025

Background: The prevalence of major depressive disorder (MDD) among patients with inflammatory bowel disease (IBD) is significantly higher compared to the general population, suggesting a potential link between their pathogeneses. Cuproptosis, define...

(This article belongs to the Special Issue Machine Learning in Cancer and Disease Genomics)
  • Article
  • Open Access
3 Citations
2,414 Views
15 Pages

Expression Profile of Twelve Transcripts as a Supporting Tool for the Molecular Characterization of Canine Cutaneous Mast Cell Tumors at Diagnosis: Association with Histological Grading and Clinical Staging

  • Mery Giantin,
  • Ludovica Montanucci,
  • Rosa Maria Lopparelli,
  • Roberta Tolosi and ,
  • Alfredo Dentini,
  • Valeria Grieco,
  • Damiano Stefanello,
  • Silvia Sabattini,
  • Laura Marconato and
  • Mauro Dacasto
  • + 6 authors+ 1 author

14 March 2025

Background/Objectives: Mast cell tumors (MCTs) are the second most common malignant neoplasms in dogs. Histopathological grading and clinical staging are the main tools for estimating biological behavior and disease extent; thus, both are essential f...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Review
  • Open Access
5 Citations
8,811 Views
17 Pages

Genomics May Be the Key to Understanding Endurance Training Pillars

  • Ricardo Muller Bottura and
  • Daniel Blasioli Dentillo

13 March 2025

Endurance performance is primarily determined by three key physiological pillars: maximal oxygen uptake (VO2max), anaerobic threshold, and economy of movement. Recent research has suggested physiological resilience as a potential fourth dimension, re...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
5 Citations
3,469 Views
16 Pages

Relationship Between Vitamin D Receptor Gene BsmI Polymorphism and 25-Hydroxyvitamin D Total Levels in Slovak Postmenopausal Women with Reduced Bone Mineral Density

  • Marta Mydlárová Blaščáková,
  • Zuzana Lőrinczová,
  • Lenka Anderková,
  • Olga Czerwińska-Ledwig and ,
  • Ľudmila Mikulová,
  • Hedviga Hrušovská,
  • Bernadeta Jędrzejkiewicz and
  • Anna Piotrowska
  • + 3 authors+ 0 author

13 March 2025

Objectives: The BsmI polymorphism of the VDR gene (vitamin D receptor) is one of the important genetic variants influencing the development of osteoporosis. Measurement and evaluation of the 25-hydroxyvitamin D (25(OH)D) concentration in individuals...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
8 Citations
4,682 Views
23 Pages

Centenary Progress on Orchidaceae Research: A Bibliometric Analysis

  • Yonglu Wei,
  • Jie Li,
  • Jianpeng Jin,
  • Jie Gao and ,
  • Qi Xie,
  • Chuqiao Lu,
  • Genfa Zhu and
  • Fengxi Yang
  • + 3 authors+ 0 author

13 March 2025

Background: Research on orchids has experienced substantial growth since the early 20th century, reflecting their ecological and evolutionary significance. Methods: This paper provides a comprehensive bibliometric analysis of orchid-related literatur...

(This article belongs to the Section Plant Genetics and Genomics)
  • Case Report
  • Open Access
4 Citations
2,950 Views
8 Pages

13 March 2025

Background: Episodic ataxia type 2 (EA2) is a rare disorder characterized by paroxysmal gait instability, dysarthria, and dizziness. It is caused by CACNA1A mutations. Spinocerebellar ataxia type 6 (SCA6) rarely causes episodic ataxia-like symptoms....

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Review
  • Open Access
7 Citations
4,638 Views
22 Pages

12 March 2025

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a prevalent liver disorder with limited treatment options. This review explores the role of post-translational modifications (PTMs) in MASLD pathogenesis, highlighting their potentia...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
2 Citations
3,498 Views
12 Pages

Development of Publicly Available Forensic DNA Sequence Mixture Data

  • Erica L. Romsos,
  • Kevin M. Kiesler,
  • Carolyn R. Steffen,
  • Lisa A. Borsuk and ,
  • Sarah Riman,
  • Lauren E. Mullen,
  • Jodi A. Irwin,
  • Peter M. Vallone and
  • Katherine B. Gettings
  • + 4 authors+ 0 author

12 March 2025

Background: In 2018, the Next-Generation Sequencing Committee of SWGDAM queried bioinformatic and statistical interpretation method developers regarding data needs for the development of sequence-based probabilistic genotyping software. Methods: Base...

(This article belongs to the Special Issue Strategies and Techniques in DNA Forensic Investigations)
  • Review
  • Open Access
18 Citations
8,767 Views
16 Pages

Usher Syndrome: New Insights into Classification, Genotype–Phenotype Correlation, and Management

  • Fabiana D’Esposito,
  • Giuseppe Gagliano,
  • Caterina Gagliano,
  • Antonino Maniaci and ,
  • Alessandro Avitabile,
  • Rosa Giglio,
  • Michele Reibaldi,
  • Maria Francesca Cordeiro and
  • Marco Zeppieri
  • + 4 authors+ 0 author

12 March 2025

Background: Usher syndrome (USH), the most common cause of combined deaf-blindness, is a genetically and phenotypically heterogeneous disorder characterized by congenital hearing impairment and progressive vision loss due to rod-cone dystrophy. Altho...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Review
  • Open Access
46 Citations
9,720 Views
42 Pages

12 March 2025

Extracellular vesicles (EVs) are nanovesicles that facilitate intercellular communication by carrying essential biomolecules under physiological and pathological conditions including microRNAs (miRNAs). They are found in various body fluids, such as...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Review
  • Open Access
8 Citations
6,558 Views
23 Pages

Curious Dichotomies of Apolipoprotein E Function in Alzheimer’s Disease and Cancer—One Explanatory Mechanism of Inverse Disease Associations?

  • Claire M. Perks,
  • Rachel M. Barker,
  • Mai Alhadrami,
  • Omar Alkahtani and ,
  • Emily Gill,
  • Mary Grishaw,
  • Abigail J. Harland,
  • Peter Henley,
  • Haonan Li and
  • Patrick G. Kehoe
  • + 8 authors+ 3 authors

12 March 2025

An apparent “inverse” relationship exists between two seemingly unconnected conditions, Alzheimer’s disease (AD) and cancer, despite sharing similar risk factors, like increased age and obesity. AD is associated with amyloid beta (A...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
1,612 Views
18 Pages

Cloning, Characterization, and Expression Analysis of the DEAD-Box Family Genes, Vasa and PL10, in Pacific Abalone (Haliotis discus hannai)

  • Fei Chen,
  • Wenwei Wu,
  • Min Li,
  • Ying Su and ,
  • Miaoqing Huang,
  • Xuan Luo,
  • Weiwei You and
  • Caihuan Ke
  • + 3 authors+ 0 author

11 March 2025

Background/Objectives: Vasa and PL10 belong to the DEAD-box protein family, which plays crucial roles in various cellular functions, such as DNA replication, DNA repair, and RNA processing. Additionally, DEAD-box family genes have also been identifie...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
6 Citations
3,104 Views
21 Pages

Transcriptome and Metabolome Analysis of Low-Pressure Regulation in Saussurea involucrata Leaves

  • Xinyu Quan,
  • Fenggui Fan,
  • Hanbo Cao,
  • Na Tang and ,
  • Changgen Xu and
  • Changhe Wang
  • + 1 author+ 0 author

11 March 2025

Saussurea involucrata, an endangered medicinal plant, thrives in high mountain regions at altitudes ranging from 3500 to 5000 m. Being a plant that grows at high altitudes means it possesses unique physiological mechanisms and stress-responsive genes...

(This article belongs to the Topic Vegetable Breeding, Genetics and Genomics, 2nd Volume)
  • Article
  • Open Access
4 Citations
2,830 Views
19 Pages

11 March 2025

Background/Objectives: The Rhenish German draught horse is an endangered German horse breed, originally used as working horse in agriculture. Therefore, the objective of this study was to evaluate the breed’s genetic diversity using pedigree an...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
4 Citations
3,315 Views
19 Pages

Molecular Identification of the Italian Soldiers Found in the Second World War Mass Grave of Ossero

  • Barbara Di Stefano,
  • Barbara Bertoglio,
  • Filomena Melchionda,
  • Monica Concato and ,
  • Solange Sorçaburu Ciglieri,
  • Alessandro Bosetti,
  • Pierangela Grignani,
  • Eros Azzalini,
  • Yasmine Addoum and
  • Paolo Fattorini
  • + 11 authors+ 6 authors

11 March 2025

Background/objectives: DNA analysis is the most reliable method for the identification of human skeletal remains, especially the ones found in mass disasters or recovered from mass graves. To this aim, DNA was extracted from bones and teeth allegedly...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Review
  • Open Access
5 Citations
10,676 Views
13 Pages

The rs1360780 Variant of FKBP5: Genetic Variation, Epigenetic Regulation, and Behavioral Phenotypes

  • Marcelo Arancibia,
  • Marcia Manterola,
  • Ulises Ríos,
  • Pablo R. Moya and ,
  • Javier Moran-Kneer and
  • M. Leonor Bustamante
  • + 1 author+ 0 author

11 March 2025

FKBP5 has been of special scientific interest in the behavioral sciences since it has been involved in the pathophysiology of several mental disorders. It is a gene with pleiotropic effects which encodes the protein FKBP5, a cochaperone that decrease...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
1 Citations
2,217 Views
23 Pages

Short Exposures to Phosphine Trigger Differential Gene Expression in Phosphine-Susceptible and -Resistant Strains of Tribolium castaneum

  • Christos G. Athanassiou,
  • Daniel Brabec,
  • Morgan Olmstead,
  • Nickolas G. Kavallieratos and
  • Brenda Oppert

10 March 2025

Background/Objectives: Phosphine resistance in insects involves a complex interplay of genetic and physiological factors, which are often poorly understood. Resistance to high concentrations of phosphine worldwide poses a formidable challenge for sto...

(This article belongs to the Collection Feature Papers in ‘Animal Genetics and Genomics’)
  • Case Report
  • Open Access
4,239 Views
9 Pages

Long-Term Phenotypic Evolution in GRIN2A-Related Disorders: Electroclinical and Genetic Insights from Two Families with Extended Follow-Up

  • Ester Di Muro,
  • Pietro Palumbo,
  • Massimo Carella,
  • Mario Benvenuto and ,
  • Maria Rachele Bianchi,
  • Umberto Costantino,
  • Giovanni Di Maggio,
  • Marco Castori,
  • Giuseppe d’Orsi and
  • Orazio Palumbo
  • + 5 authors+ 0 author

10 March 2025

Background: The GRIN2A gene and its product protein have been linked to a wide spectrum of neurodevelopmental disorders named GRIN2A-related disorders. Clinical presentation is highly variable and characteristically includes acquired cognitive, behav...

(This article belongs to the Section Neurogenomics)
  • Article
  • Open Access
3 Citations
1,911 Views
18 Pages

Genome-Wide Identification and Comprehensive Analysis of the GARP Transcription Factor Superfamily in Populus deltoides

  • Qin Yang,
  • Zhengquan He,
  • Chenjia Zheng,
  • Ruoyu He and ,
  • Yu Chen,
  • Renying Zhuo and
  • Wenmin Qiu
  • + 2 authors+ 0 author

9 March 2025

Background/Objectives: The GARP transcription factor superfamily is crucial for plant growth, development, and stress responses. This study systematically identified and analyzed the GARP family genes in Populus deltoides to explore their roles in pl...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
1 Citations
1,986 Views
11 Pages

A Comparative Analysis and Phylogenetic Relationship of the Chloroplast Genome Sequences of Illicium verum and Illicium difengpi

  • Suqin Guo,
  • Xiqun Wu,
  • Feng Peng,
  • Kun Zhang and ,
  • Suren Rao Sooranna and
  • Guiyu Tan
  • + 1 author+ 0 author

8 March 2025

Background/Objectives: Illicium verum Hook. f. and Illicium difengpi K. I. B.et K. I. M. are two important medicinal plants which grow in the mountainous areas of Guangxi, China. Their similar morphological characteristics frequently lead to the...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
5 Citations
1,911 Views
12 Pages

Genome-Wide Identification and Expression Pattern of the NAC Gene Family in Panax notoginseng

  • Baihui Jin,
  • Xiaolong Hu,
  • Na Li,
  • Xiaohua Li and ,
  • Zebin Chen,
  • Xinyu Zhao and
  • Xiaoni Wu
  • + 2 authors+ 0 author

7 March 2025

Background: The NAC transcription factor family of genes is one of the largest families of transcription factors in plants, playing important functions in plant growth and development, response to adversity stress, disease resistance, and hormone sig...

(This article belongs to the Section Plant Genetics and Genomics)
  • Case Report
  • Open Access
5,604 Views
12 Pages

Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies

  • Gregorio Serra,
  • Rosaria Nardello,
  • Vincenzo Antona,
  • Maria Rita Di Pace and ,
  • Alessandra Giliberti,
  • Mario Giuffrè,
  • Daniela Mariarosa Morreale,
  • Ettore Piro,
  • Ingrid Anne Mandy Schierz and
  • Giovanni Corsello
  • + 8 authors+ 3 authors

7 March 2025

Background: Interstitial deletions of chromosome 1q are rare, with about 30 cases reported in the literature. The phenotypical features of the affected subjects described so far include microcephaly, pre- and post-natal growth retardation, psychomoto...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
4 Citations
2,690 Views
17 Pages

Research on SSR Genetic Molecular Markers and Morphological Differences of Different Pelodiscus sinensis Populations

  • Yixin Liang,
  • Changqing Huang,
  • Pei Wang,
  • Hewei Xiao and ,
  • Zi’ao Wang,
  • Jiawei Zeng,
  • Xiaoqing Wang,
  • Shuting Xiong,
  • Yazhou Hu and
  • Qin Qin
  • + 5 authors+ 0 author

7 March 2025

Background/Objectives: The Chinese soft-shelled turtle (Pelodiscus sinensis) is an important species in freshwater aquaculture. Genetic admixture and degradation due to rapid industry expansion threaten sustainable development. This study aims to ass...

(This article belongs to the Section Animal Genetics and Genomics)
  • Case Report
  • Open Access
2 Citations
3,353 Views
7 Pages

Cryptic KMT2A::AFDN Fusion Due to AFDN Insertion into KMT2A in a Patient with Acute Monoblastic Leukemia

  • Qing Wei,
  • Gokce A. Toruner,
  • Beenu Thakral,
  • Keyur P. Patel and ,
  • Naveen Pemmaraju,
  • Sa A. Wang,
  • Rashmi Kanagal-Shamanna,
  • Guilin Tang,
  • Ghayas C. Issa and
  • Courtney DiNardo
  • + 7 authors+ 2 authors

7 March 2025

Background: KMT2A rearrangements occur in ~10% of acute myeloid leukemia (AML) cases and are critical for classification, risk stratification, and use of targeted therapy. However, insertions involving the KMT2A gene can evade detection using chromos...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
9 Citations
5,351 Views
20 Pages

7 March 2025

Background: Quantifying and controlling the inbreeding level in livestock populations is crucial for the long-term sustainability of animal husbandry. However, the extent of inbreeding has not been fully understood in sheep populations on a global sc...

(This article belongs to the Special Issue Functional Genomics and Breeding of Animals)
  • Article
  • Open Access
1 Citations
2,298 Views
11 Pages

The Mitochondrial Genome of the Springtail Semicerura bryophila (Collembola): New Data Call into Question the Relevance of the Subfamilies of the Isotomidae

  • Zhijng Xie,
  • Mingxin Zheng,
  • Yueying Li,
  • Shiyu Du and ,
  • Ruslan Saifutdinov,
  • Mikhail Potapov,
  • Xin Sun and
  • Donghui Wu
  • + 3 authors+ 0 author

6 March 2025

Background: Semicerura bryophila Potapov & Sun, 2020 is a soil-dwelling springtail belonging to the family Isotomidae. The phylogenetic relationships among species of this group remain controversial due to a lack of molecular data. Therefore...

  • Review
  • Open Access
5 Citations
4,043 Views
17 Pages

6 March 2025

Chronic Obstructive Pulmonary Disease (COPD) manifests as a genetically diverse and intricate lung condition with various subtypes. The development of the disease and response to treatment are influenced by the interplay between genetic and environme...

(This article belongs to the Section Pharmacogenetics)
  • Review
  • Open Access
19 Citations
6,245 Views
26 Pages

LncRNAs Ride the Storm of Epigenetic Marks

  • Giulia Gaggi,
  • Clinton Hausman,
  • Soomin Cho,
  • Brianna C. Badalamenti and ,
  • Bon Q. Trinh,
  • Annalisa Di Ruscio and
  • Simone Ummarino
  • + 2 authors+ 0 author

6 March 2025

Advancements in genome sequencing technologies have uncovered the multifaceted roles of long non-coding RNAs (lncRNAs) in human cells. Recent discoveries have identified lncRNAs as major players in gene regulatory pathways, highlighting their pivotal...

(This article belongs to the Section RNA)
  • Brief Report
  • Open Access
6 Citations
3,001 Views
8 Pages

6 March 2025

Background: Platelets are highly enriched in microRNAs (miRNAs), which are genomically encoded 19–25 nucleotide non-coding RNAs that target complementary mRNAs through total or near-total base pairing. MiR-223 is among the most abundant miRNAs...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Case Report
  • Open Access
2 Citations
3,715 Views
12 Pages

Identification of a Homozygous Variant in the CYP21A2 Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA

  • Nadia Petrillo,
  • Simone Marcella,
  • Roberto Sirica,
  • Monica Ianniello and ,
  • Raffaella Ruggiero,
  • Alessio Mori,
  • Rosa Castiello,
  • Cristina Ramiro,
  • Rossana D’Angelo and
  • Giovanni Savarese
  • + 9 authors+ 4 authors

5 March 2025

Background/Objectives: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by mutations in the CYP21A2 gene associated with 21-hydroxylase deficiency and increased levels of adrenal androgens. Affected females are at risk o...

(This article belongs to the Special Issue Advance in Non-invasive Prenatal Testing: Ten Years of cfDNA-Based Screening and Diagnosis)
  • Article
  • Open Access
2,414 Views
15 Pages

Cell Cycle-Based Molecular Features via Synthetic Lethality and Non-Coding RNA Interactions in Cancer

  • Shizheng Xiong,
  • Jiaming Jin,
  • Xinmiao Zhao,
  • Yang Zhao and ,
  • Zhiheng He,
  • Haochuan Guo,
  • Chengjun Gong,
  • Jiafeng Yu,
  • Li Guo and
  • Tingming Liang
  • + 5 authors+ 0 author

5 March 2025

Background: The cell cycle, a critical and intricate biological process, comprises various phases, and its dysregulation plays a pivotal role in tumorigenesis and metastasis. The exploration of cell cycle-based molecular subtypes across pan-cancers,...

(This article belongs to the Section RNA)
  • Article
  • Open Access
1 Citations
3,148 Views
16 Pages

Phenotypical Characterization of C9ALS Patients from the Emilia Romagna Registry of ALS: A Retrospective Case–Control Study

  • Andrea Ghezzi,
  • Giulia Gianferrari,
  • Elisa Baldassarri,
  • Elisabetta Zucchi and ,
  • Ilaria Martinelli,
  • Veria Vacchiano,
  • Luigi Bonan,
  • Lucia Zinno,
  • Andi Nuredini and
  • Jessica Mandrioli
  • + 21 authors+ 16 authors

4 March 2025

Background/Objectives: C9ORF72 expansion is associated with significant phenotypic heterogeneity. This study aimed to characterize the clinical features of C9ALS patients from the Emilia Romagna ALS registry (ERRALS) and compare them with non-mutated...

(This article belongs to the Special Issue Research Strategies to Unveil the Genetic and Molecular Basis of ALS)
  • Article
  • Open Access
4 Citations
2,043 Views
16 Pages

Genome-Wide Identification and Expression Analysis of CrRLK1-like Gene Family in Potatoes (Solanum tuberosum L.) and Its Role in PAMP-Triggered Immunity

  • Yazhou Bao,
  • Ru Zhao,
  • Sixian Hu,
  • Xiaoli Li and ,
  • Like Wang,
  • Ji Wang,
  • Junbin Ji,
  • Weiduo Wang,
  • Changqing Zhu and
  • Tingli Liu
  • + 8 authors+ 3 authors

4 March 2025

Background: The Catharanthus roseus receptor-like kinase 1-like (CrRLK1L) subfamily, a specialized group within receptor-like kinases (RLKs), was initially identified in C. roseus cell cultures. CrRLK1L plays an important role in the growth, developm...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
6 Citations
4,520 Views
32 Pages

4 March 2025

Background: Programmed cell death protein 1 (PD-1), encoded by the PDCD1 gene, is critical in immune checkpoint regulation and cancer immune evasion. Variants in PDCD1 may alter its function, impacting cancer susceptibility and disease progression. O...

(This article belongs to the Section Human Genomics and Genetic Diseases)

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Genes - ISSN 2073-4425