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Pathogenetics refers to studying the different aspects of initiation/development/progression and pathogenesis of genetic defects. It comprises the study of mutagens or factors capable of affecting the structural integrity of the genetic material leading to mutational changes that, in the majority of cases, result in harmful effects due to the resul...
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Non-compaction of ventricular myocardium (NCVM) is a rare genetic disorder caused by intrauterine arrest of endomyocardial development. Left ventricle is the usual site of NCVM with very rare reports of isolated right ventricular non-compaction (IRVNC). We describe a case of asymptomatic IRVNC with unique EKG changes.
Genetic disorders are common in dogs and in the media it is reported that genetic disorders are more frequent in pedigree dogs than in look-a-likes or in mixed-breed dogs. Here, we consider pedigree dogs as purebred dogs (i.e. matching a breed-specific morphology) with a registered and certified pedigree, whereas look-a-likes dogs are dogs without...
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... Numerous clinical phenotypes are linked to mutations in specific genes, and disruptions in the regulatory mechanisms governing gene expression can also contribute to these conditions [5][6][7][8][9][10]. Diseases stemming from alterations in the human genetic code pose a substantial burden, with recognised genetic diseases affecting over 5% of live births and more than two-thirds of miscarriages [11]. ...
In recent years, there has been growing interest in understanding the role of dark genes in genetic diseases and phenotypes. Despite their lack of functional characterisation, dark genes account for a significant portion of the human genome and are believed to play a role in regulating gene expression and cellular processes. We investigated the role of dark genes in genetic diseases and phenotypes by conducting integrative network analyses and functional enrichment studies across multiple large-scale molecular datasets. Our investigation revealed a predominant association of both dark and light genes with psoriasis. Furthermore, we found that the transcription factors UBTF and NFE2L2 are potential regulators of both dark and light genes associated with tuberculosis. In contrast, the transcription factors SUZ12 and TP63 are potential regulators of both dark and light genes associated with interstitial cystitis. Further network analysis of dark genes, including CALHM6, HCP5, PRRG4, DDX60L and RASA2, revealed a notably high weighted degree of association with genetic diseases and phenotypes. Moreover, our analysis revealed that numerous genetic diseases and phenotypes, including psoriasis, pick disease, tuberculosis, ulcerative colitis, interstitial cystitis, and Crohn's disease, exhibited shared gene linkages. Additionally, we conducted a protein-protein interaction analysis to reveal 16 dark genes that encode hub proteins, including R3HDM2, RPUSD4, FASTKD5, and MRPL15, that could play a role in many genetic diseases and phenotypes, and are widely expressed across body tissues. Our findings contribute to the understanding of the genetic basis of diseases and provide potential therapeutic targets for future research. Identifying dysregulated dark genes in disease states can lead to new strategies for prevention, diagnosis, and treatment, thus advancing our understanding of disease mechanisms.
... They are a clear example of damaging pathological mutations that cause disease. On the other hand, mutations that happen in non-functional parts of the genome, like intergenic areas of DNA and intronic segments of genes, do not cause pathophysiological changes and are called non-pathological mutations [7]. ...
Prokaryote, viruses, and eukaryotes chromosomes contain fragments of DNA can
move and migrate to other parts of the chromosome calling as Transposition and play an
important role in new combinations of gene production. DNA fragments carrier the
genes or transposons are the transposable elements that may called gene mutant also.
Transposons can move to another position of the same chromosome or other
chromosomes. Genomic transposable elements are used in Mycology and Plant
Pathology in various aspects, including the Cloning of genes effective in pathogenesis
(Transposon tagging), or to identify specific races of virulent bacteria, viruses, and
fungi in infected plant tissue, study of the evolutionary relationships of fungi, study of
population structure and dynamics and epidemiology of fungal pathogenic isolates,
diagnosis of divergent populations and the introduction of transposon-based markers.
