Research Topic · Peer-Reviewed

Mutation

A mutation is a change in the nucleotide sequence or structure of an organism's genetic material, ranging from single-base substitutions to insertions, deletions, and larger chromosomal alterations. Mutations arise spontaneously during replication or are induced by mutagens such as ultraviolet and ionizing radiation…

Curated from this journal's research 📚 12 peer-reviewed articles cited Cited 18× across the literature 🔖 ISSN 2694-1198 🗓 Reviewed July 2026

Overview

A mutation is a change in the nucleotide sequence or structure of an organism's genetic material, ranging from single-base substitutions to insertions, deletions, and larger chromosomal alterations. Mutations arise spontaneously during replication or are induced by mutagens such as ultraviolet and ionizing radiation and chemical agents, and they may be neutral, beneficial, or deleterious. As the ultimate source of genetic variation, mutations drive evolution while also underlying inherited disorders and cancer; characterizing pathogenic variants is central to medical genetics and molecular diagnosis. Research in this area examines disease-causing mutations, mutational processes, and their phenotypic consequences. The journal publishes peer-reviewed work relevant to mutation, including studies of Factor V Leiden and other thrombophilic mutations in retinal vascular occlusion, SMO mutation in melanoma, a calcium-channel mutation in hypokalaemic periodic paralysis, plasminogen activator inhibitor-1 mutation, a novel PRKAR1A mutation in Carney complex, a LAMB3 mutation causing junctional epidermolysis bullosa, RPS19 mutation in Diamond-Blackfan anaemia, genetic-mathematical modelling of mutational processes, and analysis of variants of uncertain significance in BRCA1. This work investigates how mutations arise and how specific variants contribute to disease, through clinical case characterization, molecular analysis, and population modelling, reflecting the field's interest in the genetic alterations that drive variation, inherited disease, and cancer.

Research published in this journal

12 peer-reviewed articles, ranked by relevance. Each links to its DOI.

2021

A New Gene Mutation of PRKAR1A was found in a Carney Complex Case

Yang LiCorresponding author
Department of Endocrinology, Hunan Provincial People's Hospital (The First Affiliated Hospital of Hunan Normal University), Changsha, Hunan 410000, China.
Exact topic Clinical Case Reports and Images doi:10.14302/issn.2641-5518.jcci-21-3914
2020

Inbreeding in a Family Tree and in a Population

Volobuev A.N.Corresponding author
Samara State Medical University. Department of Medical Physics. Samara, Russia
Exact topic Genetic Engineering doi:10.14302/issn.2694-1198.jge-20-3206

How this research is being cited

The 12 articles above have been cited 18 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.

A sample of recent works citing this journal's research on Mutation, linking to each citing work.

Editorial oversight

Curated from peer-reviewed research published in Genetic Engineering (ISSN 2694-1198).

Journal editorial board
Gabriela Roca · Germany Khalid Al-Nedawi · Canada Giuliana Giardino · Italy

This page summarises published research for orientation; it is not medical or professional advice.