Research Topic · Peer-Reviewed

Genetic Mutations

Genetic mutations are heritable or somatic alterations in the DNA sequence, ranging from single-nucleotide substitutions to insertions, deletions, and larger structural changes that modify or abolish gene function. In the study of hereditary disease, particular attention falls on mutations that disrupt specific prot…

Curated from this journal's research 📚 12 peer-reviewed articles cited Cited 27× across the literature 🗓 Reviewed July 2026

Overview

Genetic mutations are heritable or somatic alterations in the DNA sequence, ranging from single-nucleotide substitutions to insertions, deletions, and larger structural changes that modify or abolish gene function. In the study of hereditary disease, particular attention falls on mutations that disrupt specific proteins and pathways: defects in coagulation factors and their regulatory proteins underlie inherited bleeding disorders, while mutations in structural genes such as LAMB3 cause junctional epidermolysis bullosa. Mutations are classified by molecular type and by functional consequence, including loss-of-function and gain-of-function effects, and by inheritance pattern, encompassing autosomal dominant, recessive, and X-linked transmission. Many monogenic and syndromic conditions illustrate these principles, from multiple endocrine neoplasia and Tay-Sachs disease to enzyme deficiencies such as atypical phenylketonuria caused by lesions in the 6-pyruvoyltetrahydropterin synthase gene. Genetic polymorphisms, by contrast, are common sequence variants that modulate susceptibility to complex disorders such as epilepsy and certain cancers, where activated signalling pathways reflect accumulated somatic mutations. Population-level processes, including inbreeding, influence how recessive alleles express as disease. Research in this area characterises causative variants, links genotype to phenotype, and supports molecular diagnosis, genetic counselling, and emerging gene-directed therapies for inherited conditions.

Research published in this journal

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

2020

The Genetic Multiplicity- Multiple Endocrine Neoplasia type I

Bajaj AnubhaCorresponding author
MD. (Pathology) Panjab University, Department of Histopathology, A.B. Diagnostics, A-1, Ring Road, Rajouri Garden, New Delhi, 110027, India.
Exact topic International Journal of Infection Prevention doi:10.14302/issn.2690-4837.ijip-20-3176

How this research is being cited

The 12 articles above have been cited 27 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 Genetic Mutations, linking to each citing work.

Editorial oversight

Curated from peer-reviewed research published in Hereditary Diseases.

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