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Genes, Volume 14, Issue 7

2023 July - 206 articles

Cover Story: RNA splicing is a key regulatory step in the proper control of gene expression. It is a highly dynamic process orchestrated by the spliceosome, a macro-molecular machinery that consists of protein and RNA components. The dysregulation of RNA splicing has been observed in many human pathologies, ranging from neurodegenerative diseases to cancer. The recent identification of recurrent mutations in the core components of the spliceosome in hematologic malignancies has advanced our knowledge of how splicing alterations contribute to disease pathogenesis. This review article will discuss our current understanding of how aberrant RNA splicing regulation drives tumor initiation and progression. We will also review current therapeutic modalities and highlight emerging technologies designed to target RNA splicing for cancer treatment. View this paper
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Articles (206)

  • Article
  • Open Access
5 Citations
2,980 Views
14 Pages

The Genetic Diversity of Stallions of Different Breeds in Russia

  • Natalia Dementieva,
  • Elena Nikitkina,
  • Yuri Shcherbakov,
  • Olga Nikolaeva,
  • Olga Mitrofanova,
  • Anna Ryabova,
  • Mikhail Atroshchenko,
  • Oksana Makhmutova and
  • Alexander Zaitsev

24 July 2023

The specifics of breeding and selection significantly affect genetic diversity and variability within a breed. We present the data obtained from the genetic analysis of 21 thoroughbred and warmblood horse breeds. The most detailed information is desc...

  • Article
  • Open Access
1 Citations
2,122 Views
11 Pages

24 July 2023

Complete mitochondrial genomes were newly sequenced for eight species of the treehopper subfamily Centrotinae (Hemiptera: Membracidae), four of which represent genera for which mitogenomes were not previously available. The new mitogenomes are genera...

  • Article
  • Open Access
2 Citations
1,787 Views
11 Pages

Evidence for Two Soybean Looper Strains in the United States with Limited Capacity for Cross-Hybridization

  • Rodney N. Nagoshi,
  • Jeffrey A. Davis,
  • Robert L. Meagher,
  • Fred R. Musser,
  • Graham P. Head,
  • Hector Portillo and
  • Henry Teran

24 July 2023

The noctuid moth soybean looper (SBL), Chrysodeixis includens (Walker) is an economically important pest of soybeans (Glycine max (L.) Merr.) in the southeastern United States. It has characteristics that are of particular concern for pest mitigation...

  • Article
  • Open Access
9 Citations
3,109 Views
14 Pages

24 July 2023

Larimichthys crocea (also known as the large yellow croaker) is one of the most economically important marine fishes in China, and research on the ecology and genetics of this species is of immense significance. In this study, we performed restrictio...

  • Article
  • Open Access
3 Citations
3,411 Views
37 Pages

GWAS for Early-Establishment QTLs and Their Linkage to Major Phenology-Affecting Genes (Vrn, Ppd, and Eps) in Bread Wheat

  • Md. Farhad,
  • Shashi B. Tripathi,
  • Ravi P. Singh,
  • Arun K. Joshi,
  • Pradeep K. Bhati,
  • Manish K. Vishwakarma and
  • Uttam Kumar

24 July 2023

Farmers in northern and central Indian regions prefer to plant wheat early in the season to take advantage of the remaining soil moisture. By planting crops before the start of the season, it is possible to extend the time frame for spring wheat. The...

  • Review
  • Open Access
16 Citations
5,745 Views
24 Pages

Epigenetic Aberrations in Major Psychiatric Diseases Related to Diet and Gut Microbiome Alterations

  • Shabnam Nohesara,
  • Hamid Mostafavi Abdolmaleky and
  • Sam Thiagalingam

24 July 2023

Nutrition and metabolism modify epigenetic signatures like histone acetylation and DNA methylation. Histone acetylation and DNA methylation in the central nervous system (CNS) can be altered by bioactive nutrients and gut microbiome via the gut–brain...

  • Article
  • Open Access
7 Citations
2,979 Views
17 Pages

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

  • Flavia Privitera,
  • Flavia Piccini,
  • Maria Paola Recalcati,
  • Silvia Presi,
  • Silvia Mazzola and
  • Paola Carrera

23 July 2023

The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intell...

  • Article
  • Open Access
3,149 Views
18 Pages

Drosophila as Model System to Study Ras-Mediated Oncogenesis: The Case of the Tensin Family of Proteins

  • Ana Martínez-Abarca Millán,
  • Jennifer Soler Beatty,
  • Andrea Valencia Expósito and
  • María D. Martín-Bermudo

23 July 2023

Oncogenic mutations in the small GTPase Ras contribute to ~30% of human cancers. However, tissue growth induced by oncogenic Ras is restrained by the induction of cellular senescence, and additional mutations are required to induce tumor progression....

  • Article
  • Open Access
4 Citations
2,836 Views
16 Pages

The Ratio of cf-mtDNA vs. cf-nDNA in the Follicular Fluid of Women Undergoing IVF Is Positively Correlated with Age

  • Georgia Tsirka,
  • Athanasios Zikopoulos,
  • Kyriaki Papageorgiou,
  • Charilaos Kostoulas,
  • Ioannis Tsigkas,
  • Efthalia Moustakli,
  • Aris Kaltsas,
  • Eleftheria Sarafi,
  • Theologos M. Michaelidis and
  • Ioannis Georgiou

23 July 2023

Age-related mitochondrial markers may facilitate the prognosis of artificial reproductive technology outcomes. In this report, we present our study concerning the ratio of cf-mtDNA/cf-nDNA, namely the amount of cell-free mitochondrial DNA relative to...

  • Communication
  • Open Access
10 Citations
2,183 Views
10 Pages

Identification of ROH Islands Conserved through Generations in Pigs Belonging to the Nero Lucano Breed

  • Paola Di Gregorio,
  • Annamaria Perna,
  • Adriana Di Trana and
  • Andrea Rando

23 July 2023

The recovery of Nero Lucano (NL) pigs in the Basilicata region (Southern Italy) started in 2001 with the collaboration of several public authorities in order to preserve native breeds that can play a significant economic role both due to their remark...

  • Article
  • Open Access
6 Citations
3,204 Views
25 Pages

22 July 2023

ParaHox genes are key developmental regulators involved in the patterning of the digestive tract along the anteroposterior axis and the development of the nervous system. Most studies have focused on the function of these genes in embryogenesis, whil...

  • Article
  • Open Access
7 Citations
2,383 Views
18 Pages

22 July 2023

Background: The major histocompatibility complex (MHC) plays a key role in the adaptive immune response to pathogens due to its extraordinary polymorphism. However, the spatial patterns of MHC variation in the striped hamster remain unclear, particul...

  • Article
  • Open Access
6 Citations
2,440 Views
18 Pages

22 July 2023

To further understand the origin and evolution of Palaemonidae (Decapoda: Caridea), we determined the mitochondrial genome sequence of Palaemon macrodactylus and Palaemon tenuidactylus. The entire mitochondrial genome sequences of these two Pala...

  • Article
  • Open Access
3 Citations
2,894 Views
16 Pages

Evolutionary Rates, Divergence Rates, and Performance of Individual Mitochondrial Genes Based on Phylogenetic Analysis of Copepoda

  • Junzong He,
  • Zhihao Zhou,
  • Yan Huang,
  • Jinmei Feng,
  • Wenxiang Li,
  • Guitang Wang and
  • Congjie Hua

22 July 2023

Copepoda is a large and diverse group of crustaceans, which is widely distributed worldwide. It encompasses roughly 9 orders, whose phylogeny remains unresolved. We sequenced the complete mitochondrial genome (mitogenome) of Sinergasilus major (Marke...

  • Article
  • Open Access
6 Citations
2,054 Views
11 Pages

Effect of Bovine MEF2A Gene Expression on Proliferation and Apoptosis of Myoblast Cells

  • Jinkui Sun,
  • Yong Ruan,
  • Jiali Xu,
  • Pengfei Shi and
  • Houqiang Xu

22 July 2023

Myocyte enhancer factor 2A (MEF2A) is a member of the myocyte enhancer factor 2 family. MEF2A is widely distributed in various tissues and organs and participates in various physiological processes. This study aimed to investigate the effect of MEF2A...

  • Article
  • Open Access
2,279 Views
16 Pages

Genetic Ancestry Estimates within Dutch Family Units and Across Genotyping Arrays: Insights from Empirical Analysis Using Two Estimation Methods

  • Jeffrey J. Beck,
  • Talitha Ahmed,
  • Casey T. Finnicum,
  • Koos Zwinderman,
  • Erik A. Ehli,
  • Dorret I. Boomsma and
  • Jouke Jan Hottenga

22 July 2023

Accurate inference of genetic ancestry is crucial for population-based association studies, accounting for population heterogeneity and structure. This study analyzes genome-wide SNP data from the Netherlands Twin Register to compare genetic ancestry...

  • Article
  • Open Access
3 Citations
2,330 Views
14 Pages

22 July 2023

The Noctuid moth soybean looper (SBL), Chrysodeixis includens (Walker), is an economically important pest of soybean (Glycine max (Linnaeus) Merrill). Because it is not known to survive freezing winters, permanent populations in the United States are...

  • Article
  • Open Access
1 Citations
2,872 Views
15 Pages

22 July 2023

The Indian highland shrew, Suncus niger (Horsfield, 1851), is the least studied soricid species from its original range distribution in Southern India, with several systematics conundrums. Following its discovery in 1851, the species was synonymized...

  • Brief Report
  • Open Access
1,891 Views
8 Pages

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma

  • Adrián González-Quintana,
  • Rocío Garrido-Moraga,
  • Sara I. Palencia-Pérez,
  • Ángela Hernández-Martín,
  • Jon Sánchez-Munárriz,
  • José M. Lezana-Rosales,
  • Juan F. Quesada-Espinosa,
  • Miguel A. Martín and
  • Ana Arteche-López

22 July 2023

Hereditary palmoplantar keratodermas (PPKs) are a clinically and genetically heterogeneous group of disorders characterized by excessive epidermal thickening of palms and soles. Several genes have been associated with PPK including PERP, a gene encod...

  • Article
  • Open Access
7 Citations
2,217 Views
12 Pages

21 July 2023

The grape is one of the most produced and processed horticultural crops. This study evaluated the grape genetic resource belonging to the Vitis labrusca species. The diversity was assessed according to morphometric, antioxidant, physicochemical, and...

  • Article
  • Open Access
32 Citations
7,928 Views
13 Pages

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

  • Faidon-Nikolaos Tilemis,
  • Nikolaos M. Marinakis,
  • Danai Veltra,
  • Maria Svingou,
  • Kyriaki Kekou,
  • Anastasios Mitrakos,
  • Maria Tzetis,
  • Konstantina Kosma,
  • Periklis Makrythanasis and
  • Christalena Sofocleous
  • + 1 author

21 July 2023

Whole-Exome Sequencing (WES) has proven valuable in the characterization of underlying genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially thought to escape detection. Recent technological advances enabled CNV call...

  • Article
  • Open Access
4 Citations
2,685 Views
13 Pages

21 July 2023

Background: Although knowledge of the genetic factors influencing kidney disease is increasing, epigenetic profiles, which are associated with chronic kidney disease (CKD), have not been fully elucidated. We sought to identify the DNA methylation sta...

  • Article
  • Open Access
5 Citations
2,410 Views
15 Pages

Tumor Necrosis Factor-α G-308A Polymorphism and Sporadic IgA Nephropathy: A Meta-Analysis Using a Genetic Model-Free Approach

  • Maria Tziastoudi,
  • Ioanna Chronopoulou,
  • Georgios Pissas,
  • Christos Cholevas,
  • Theodoros Eleftheriadis and
  • Ioannis Stefanidis

21 July 2023

Tumor necrosis factor-α (TNF-α) is a potent pro-inflammatory cytokine, involved in the pathogenesis and progression of immunoglobulin A nephropathy (IgAN). A bi-allelic polymorphism in the promoter region, at position -308 (G/A) of the TN...

  • Article
  • Open Access
3 Citations
2,274 Views
11 Pages

21 July 2023

The male karyotype of Aulacocyclus tricuspis Kaup 1868 (Coleoptera, Scarabaeoidea, Passalidae, Aulacocyclinae) from New Caledonia contains an exceptionally high number of chromosomes, almost all of which are acrocentric (53,X1X2Y). Unlike the karyoty...

  • Article
  • Open Access
9 Citations
5,828 Views
13 Pages

Presence of Human DNA on Household Dogs and Its Bi-Directional Transfer

  • Heidi Monkman,
  • Bianca Szkuta and
  • Roland A. H. van Oorschot

21 July 2023

Awareness of the factors surrounding the transfer of DNA from a person, item, or surface to another person, item, or surface is highly relevant during investigations of alleged criminal activity. Animals in domestic environments could be a victim, of...

  • Article
  • Open Access
3 Citations
2,107 Views
16 Pages

21 July 2023

Despite the worldwide distribution and rich diversity of the infraorder Bibionomorpha in Diptera, the characteristics of mitochondrial genomes (mitogenomes) are still little-known, and the phylogenetics and evolution of the infraorder remains controv...

  • Review
  • Open Access
94 Citations
16,820 Views
37 Pages

Integrated Genomic Selection for Accelerating Breeding Programs of Climate-Smart Cereals

  • Dwaipayan Sinha,
  • Arun Kumar Maurya,
  • Gholamreza Abdi,
  • Muhammad Majeed,
  • Rachna Agarwal,
  • Rashmi Mukherjee,
  • Sharmistha Ganguly,
  • Robina Aziz,
  • Manika Bhatia and
  • Jen-Tsung Chen
  • + 6 authors

21 July 2023

Rapidly rising population and climate changes are two critical issues that require immediate action to achieve sustainable development goals. The rising population is posing increased demand for food, thereby pushing for an acceleration in agricultur...

  • Article
  • Open Access
4 Citations
2,303 Views
16 Pages

Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia

  • Itsuka Matsushita,
  • Hiroto Izumi,
  • Shinji Ueno,
  • Takaaki Hayashi,
  • Kaoru Fujinami,
  • Kazushige Tsunoda,
  • Takeshi Iwata,
  • Yoshiaki Kiuchi and
  • Hiroyuki Kondo

21 July 2023

The human fovea is a specialized pit structure in the central retina. Foveal hypoplasia is a condition where the foveal pit does not fully develop, and it is associated with poor vision. Autosomal dominant isolated foveal hypoplasia (FVH1) is a rare...

  • Article
  • Open Access
2 Citations
2,452 Views
9 Pages

Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?

  • Alessia Azzarà,
  • Ilaria Cassano,
  • Carla Lintas,
  • Fabio Pilato,
  • Fioravante Capone,
  • Vincenzo Di Lazzaro and
  • Fiorella Gurrieri

20 July 2023

Peripheral facial palsy rarely occurs as part of Melkersson–Rosenthal syndrome (MRS), which is characterized by the classical triad of tongue cheilitis, recurrent episodes of orofacial swelling, and palsy. MRS is a disorder with variable expres...

  • Article
  • Open Access
3 Citations
2,919 Views
11 Pages

20 July 2023

Microsatellites, also known as simple sequence repeats (SSRs), are polymorphic loci that play an important role in genome research, animal breeding, and disease control. Ranch animals are important components of agricultural landscape. The ranch anim...

  • Article
  • Open Access
6 Citations
3,182 Views
16 Pages

Genetic Diversity and Population Structure of African Sorghum (Sorghum bicolor L. Moench) Accessions Assessed through Single Nucleotide Polymorphisms Markers

  • Muhammad Ahmad Yahaya,
  • Hussein Shimelis,
  • Baloua Nebie,
  • Chris Ochieng Ojiewo,
  • Abhishek Rathore and
  • Roma Das

20 July 2023

Assessing the genetic diversity and population structure of cultivated sorghum is important for heterotic grouping, breeding population development, marker-assisted cultivar development, and release. The objectives of the present study were to assess...

  • Article
  • Open Access
5 Citations
2,537 Views
25 Pages

20 July 2023

Spastic syndrome is a chronic, progressive disorder of adult cattle characterized by episodes of sudden involuntary muscle contractions or spasms of the extensor and abductor muscles of one or both hind limbs. In this study, a case-control genome-wid...

  • Article
  • Open Access
2,527 Views
14 Pages

Genome-Wide Identification and Characterization of the Phytochrome Gene Family in Peanut

  • Yue Shen,
  • Yonghui Liu,
  • Man Liang,
  • Xuyao Zhang,
  • Zhide Chen and
  • Yi Shen

20 July 2023

To investigate the potential role of phytochrome (PHY) in peanut growth and its response to environmental fluctuations, eight candidate AhPHY genes were identified via genome-wide analysis of cultivated peanut. These AhPHY polypeptides were determine...

  • Article
  • Open Access
7 Citations
2,244 Views
12 Pages

Selection and Validation of Reference Genes in Virus-Infected Sweet Potato Plants

  • Guangyan Li,
  • Xiaohui Sun,
  • Xiaoping Zhu,
  • Bin Wu,
  • Hao Hong,
  • Zhimei Xin,
  • Xiangqi Xin,
  • Jiejun Peng and
  • Shanshan Jiang

19 July 2023

Quantitative real-time PCR (qRT-PCR) in sweet potatoes requires accurate data normalization; however, there are insufficient studies on appropriate reference genes for gene expression analysis. We examined variations in the expression of eight candid...

  • Article
  • Open Access
2,134 Views
13 Pages

19 July 2023

Although a large number of databases are available for regulatory elements, a bottleneck has been created by the lack of bioinformatics tools to predict the interaction modes of regulatory elements. To reduce this gap, we developed the Arabidopsis Tr...

  • Article
  • Open Access
33 Citations
3,502 Views
15 Pages

19 July 2023

In higher plants, light-harvesting chlorophyll a/b binding (Lhc) proteins play a vital role in photosynthetic processes and are widely involved in the regulation of plant growth, development, and response to abiotic stress. However, the Lhc gene fami...

  • Review
  • Open Access
10 Citations
3,438 Views
18 Pages

EMAST Type of Microsatellite Instability—A Distinct Entity or Blurred Overlap between Stable and MSI Tumors

  • Kristina Vuković Đerfi,
  • Anamarija Salar,
  • Tamara Cacev and
  • Sanja Kapitanović

19 July 2023

Microsatellite instability (MSI) represents an accumulation of frameshifts in short tandem repeats, microsatellites, across the genome due to defective DNA mismatch repair (dMMR). MSI has been associated with distinct clinical, histological, and mole...

  • Article
  • Open Access
17 Citations
3,068 Views
12 Pages

19 July 2023

Heat tolerance is increasingly becoming a crucial trait for aquaculture species in the face of rapidly changing climate conditions. Alternative splicing (AS) is a vital mechanism within cells that modulates gene abundance and functional diversity, en...

  • Article
  • Open Access
1 Citations
2,008 Views
17 Pages

Chromosomal Evolution of the Talpinae

  • Larisa S. Biltueva,
  • Nadezhda V. Vorobieva,
  • Natalya A. Lemskya,
  • Polina L. Perelman,
  • Vladimir A. Trifonov,
  • Victor V. Panov,
  • Alexey V. Abramov,
  • Shin-ichiro Kawada,
  • Natalya A. Serdukova and
  • Alexandr S. Graphodatsky

19 July 2023

In recent years, the number of mole species with species status confirmed by genetic methods has been continuously increasing. Unfortunately, cytogenetic data are not yet available for all species. Here, for the first time, a GTG-banded karyotype of...

  • Article
  • Open Access
7 Citations
1,767 Views
14 Pages

19 July 2023

Abscisic acid (ABA), a critical phytohormone that regulates plant development and stress response, is sensed by the ABA receptors PYR/PYL/RCAR (PYLs). The PYL genes have been widely studied in multiple plant species, while a systematic analysis of PY...

  • Article
  • Open Access
2 Citations
2,232 Views
8 Pages

Associations of HLA Polymorphisms with Chronic Kidney Disease in Japanese Rheumatoid Arthritis Patients

  • Takashi Higuchi,
  • Shomi Oka,
  • Hiroshi Furukawa,
  • Kota Shimada,
  • Atsushi Hashimoto,
  • Akiko Komiya,
  • Toshihiro Matsui,
  • Naoshi Fukui and
  • Shigeto Tohma

19 July 2023

Objectives: The prevalence of chronic kidney disease (CKD) was reported to be higher in rheumatoid arthritis (RA) patients than in normal healthy individuals. Human leukocyte antigen (HLA) was associated with RA or CKD. Few studies on the association...

  • Article
  • Open Access
2 Citations
2,075 Views
12 Pages

The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain

  • Ainhoa Robles-Mezcua,
  • Amalio Ruíz-Salas,
  • Carmen Medina-Palomo,
  • María Robles-Mezcua,
  • Arancha Díaz-Expósito,
  • María Victoria Ortega-Jiménez,
  • Juan Ramón Gimeno-Blanes,
  • Manuel F. Jiménez-Navarro and
  • José Manuel García-Pinilla

19 July 2023

Introduction and objectives: Arrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease defined by the progressive replacement of the ventricular myocardium with fibroadipose tissue, which can act as a substrate for arrhythmias, sudden death,...

  • Article
  • Open Access
1 Citations
2,276 Views
13 Pages

19 July 2023

The Chinese soft-shelled turtle, Pelodiscus sinensis, is an important aquaculture species in China that exhibits distinct sexual dimorphism; male individuals are economically more valuable than females. In vertebrates, several R-spondin family protei...

  • Article
  • Open Access
6 Citations
2,345 Views
12 Pages

19 July 2023

Genetic and epigenetic modifications present a major cause of relapse and treatment failure in colorectal cancer. This study aims to appreciate the prognostic and predictive value of ERRC1 and MGMT methylation. We also studied the prognostic impact o...

  • Article
  • Open Access
14 Citations
3,257 Views
15 Pages

Mutations in Structural Genes of the Mitochondrial Complex IV May Influence Breast Cancer

  • Ricardo Cunha de Oliveira,
  • Sávio Pinho dos Reis and
  • Giovanna C. Cavalcante

18 July 2023

Although it has gained more attention in recent years, the relationship between breast cancer (BC) and mitochondrial oxidative phosphorylation (OXPHOS) is still not well understood. Importantly, Complex IV or Cytochrome C Oxidase (COX) of OXPHOS is o...

  • Review
  • Open Access
20 Citations
6,577 Views
11 Pages

18 July 2023

The spectrum of information related to precision medicine in diabetes generally includes clinical data, genetics, and omics-based biomarkers that can guide personalized decisions on diabetes care. Given the remarkable progress in patient risk charact...

  • Article
  • Open Access
2 Citations
2,763 Views
21 Pages

Exploring the Potential Role of Ribosomal Proteins to Enhance Potato Resilience in the Face of Changing Climatic Conditions

  • Eliana Valencia-Lozano,
  • Lisset Herrera-Isidrón,
  • Jorge Abraham Flores-López,
  • Osiel Salvador Recoder-Meléndez,
  • Braulio Uribe-López,
  • Aarón Barraza and
  • José Luis Cabrera-Ponce

18 July 2023

Potatoes have emerged as a key non-grain crop for food security worldwide. However, the looming threat of climate change poses significant risks to this vital food source, particularly through the projected reduction in crop yields under warmer tempe...

  • Article
  • Open Access
10 Citations
2,755 Views
15 Pages

18 July 2023

Fagopylum tatarium (L.) Gaertn (buckwheat) can be used both as medicine and food and is also an important food crop in barren areas and has great economic value. Exploring the molecular mechanisms of the response to cadmium (Cd) stress can provide th...

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Genes - ISSN 2073-4425