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Topic Review
KRT17 Gene
Keratin 17
  • 526
  • 23 Dec 2020
Topic Review
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, which is a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.
  • 524
  • 23 Dec 2020
Topic Review
HPS1 Gene
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
  • 520
  • 23 Dec 2020
Topic Review
Constitutional SOX4 Variation in Human Disorders
SOX proteins are transcription factors which play a role in regulating the development of progenitor cells and tissue differentiation. Twenty members are known, clustered in eight groups named A through H and sharing a common DNA-binding domain called the HMG (high-mobility-group) box. Eleven of the SOX genes have been associated with genetic disorders so far, covering a broad spectrum of developmental diseases. SOX4 is a single-exon gene and belongs to the SOXC group, together with SOX11 and SOX12. SOX4 variants have been recently described to cause a highly penetrant but heterogeneous disorder, with a phenotypic spectrum ranging from mild developmental delays and learning difficulties to intellectual disabilities with congenital anomalies. Nineteen pathogenic variants have been reported to date, generally de novo, heterozygous, and inactivating, either stop–gain or missense, the latter ones primarily targeting the HMG domain.
  • 519
  • 01 Mar 2024
Topic Review
Single Omic Layer Analyses in Colorectal Cancer
Colorectal cancer is a major health concern since it is a highly diagnosed cancer and the second cause of death among cancers. Thus, the most suitable biomarkers for its diagnosis, prognosis, and treatment have been studied to improve and personalize the prevention and clinical management of colorectal cancer. The emergence of omic techniques has provided a great opportunity to better study CRC and make personalized medicine feasible.
  • 516
  • 02 Aug 2023
Topic Review
Sixteen Gene Therapy Drugs
Gene therapy has become a rapidly growing field with significant advancements. This innovative therapeutic approach is revolutionizing the treatment of various diseases. Gene therapy drugs have revolutionized the field of medicine by providing a targeted approach to treating genetic disorders. 
  • 516
  • 22 Jan 2024
Topic Review
KCNK9 Gene
Potassium two pore domain channel subfamily K member 9
  • 500
  • 23 Dec 2020
Topic Review
Germline POT1 Variants
Protection of Telomere 1 (POT1) was deemed as a novel high-penetrance susceptibility gene to cutaneous melanoma nearly 10 years ago. Thereafter, various cancers have been proposed as associated with germline POT1 variants in the context of the so-called POT1 Predisposition Tumor Syndrome (POT1–TPD). While the key role, and related risks, of the alterations in POT1 in melanoma are established, the correlation between germline POT1 variants and the susceptibility to other cancers partially lacks evidence, due also to the rarity of POT1–TPD. 
  • 496
  • 01 Mar 2024
Topic Review
Copy Number Variations in Neuropsychiatric Disorders
Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances have improved understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved. Previous studies mainly investigated genome-wide significant single nucleotide polymorphisms (SNPs) to elucidate the cross-disorder and disorder-specific genetic basis of neuropsychiatric disorders. Although copy number variations represent a major source of genetic variations, they are known risk factors in developing a variety of human disorders, including certain neuropsychiatric diseases.
  • 488
  • 27 Sep 2023
Topic Review
Liquid Biopsies for Non-Small CellLung Cancer Management
Liquid biopsies allow easy repeated sampling of blood, reflect the tumor scenario, and make personalized therapy real for the patient. Liquid biopsies isolate and utilize different substrates present in patients’ body fluids such as circulating tumor cells, circulating tumor DNA, tumor extracellular vesicles, etc. One of the most-used solid cancers in the development of the non-invasive liquid biopsy approach that has benefited from scientific advances is non-small cell lung cancer (NSCLC). Using liquid biopsy, it is possible to have more details on NSCLC staging, progression, heterogeneity, gene mutations and clonal evolution, etc., basing the treatment on precision medicine as well as on the screening of markers for therapeutic resistance. 
  • 481
  • 17 Feb 2023
Topic Review
Developmental Impacts of Epigenetics and Metabolism in COVID-19
Developmental biology is intricately regulated by epigenetics and metabolism but the mechanisms are not completely understood. The situation becomes even more complicated during diseases where all three phenomena are dysregulated. A salient example is COVID-19, where the death toll exceeded 6.96 million in 4 years, while the virus continues to mutate into different variants and infect people. Early evidence during the pandemic showed that the host’s immune and inflammatory responses to COVID-19 (like the cytokine storm) impacted the host’s metabolism, causing damage to the host’s organs and overall physiology. The involvement of angiotensin-converting enzyme 2 (ACE2), the pivotal host receptor for the SARS-CoV-2 virus, was identified and linked to epigenetic abnormalities along with other contributing factors.
  • 478
  • 01 Mar 2024
Topic Review
PGT-M for Premature Ovarian Failure
Primary ovarian failure (POF) is caused by follicle exhaustion and is associated with menstrual irregularities and elevated gonadotropin levels, which lead to infertility before the age of 40 years. The etiology of POI is mostly unknown, but a heterogeneous genetic and familial background can be identified in a subset of cases. Abnormalities in the fragile X mental retardation 1 gene (FMR1) are among the most prevalent monogenic causes of POI. These abnormalities are caused by the expansion of an unstable CGG repeat in the 5′ untranslated region of FMR1. Expansions over 200 repeats cause fragile X syndrome (FXS), whereas expansions between 55 and 200 CGG repeats, which are defined as a fragile X premutation, have been associated with premature ovarian failure type 1 (POF1) in heterozygous females. Preimplantation genetic testing for monogenic diseases (PGT-M) can be proposed when the female carries a premutation or a full mutation. 
  • 477
  • 19 Jan 2024
Topic Review
Genetics of Posttraumatic Stress Disorder
The potential Genetic influences of post-traumatic stress disorder are ill understood due to the limitations of any genetic study of mental illness; in that it cannot be ethically induced in selected groups. So all studies must use naturally occurring groups with genetic similarities and difference, thus the amount of data is limited. However, Genetics play some role in the development of PTSD. Approximately 30% of the variance in PTSD is caused from genetics alone. For twin pairs exposed to combat in Vietnam, having a monozygotic (identical) twin with PTSD was associated with an increased risk of the co-twin's having PTSD compared to twins that were dizygotic (non-identical twins).
  • 475
  • 14 Oct 2022
Topic Review
mTOR Signaling Pathway in Cell Growth
The evolutionarily conserved target of rapamycin (TOR) serine/threonine kinase controls eukaryotic cell growth, metabolism and survival by integrating signals from the nutritional status and growth factors. TOR is the catalytic subunit of two distinct functional multiprotein complexes termed mTORC1 (mechanistic target of rapamycin complex 1) and mTORC2, which phosphorylate a different set of substrates and display different physiological functions. Dysregulation of TOR signaling has been involved in the development and progression of several disease states including cancer and diabetes. 
  • 459
  • 30 Nov 2023
Topic Review
Long Non-Coding RNAs in IBD and Johne’s Disease
Non-coding RNAs (ncRNA) have paved the way to new perspectives on the regulation of gene expression, not only in biology and medicine, but also in associated fields and technologies, ensuring advances in diagnostic means and therapeutic modalities. Critical in this multistep approach are the associations of long non-coding RNA (lncRNA) with diseases and their causal genes in their networks of interactions, gene enrichment and expression analysis, associated pathways, the monitoring of the involved genes and their functional roles during disease progression from one stage to another. Studies have shown that Johne’s Disease (JD), caused by Mycobacterium avium subspecies partuberculosis (MAP), shares common lncRNAs, clinical findings, and other molecular entities with Crohn’s Disease (CD). This has been a subject of vigorous investigation owing to the zoonotic nature of this condition, although results are still inconclusive.
  • 458
  • 11 Sep 2023
Topic Review
Genetic Marker Exploration for Livestock Vertebral Traits
In livestock breeding, the number of vertebrae has gained significant attention due to its impact on carcass quality and quantity. Variations in vertebral traits have been observed across different animal species and breeds, with a strong correlation to growth and meat production. Furthermore, vertebral traits are classified as quantitative characteristics. Molecular marker techniques, such as marker-assisted selection (MAS), have emerged as efficient tools to identify genetic markers associated with vertebral traits.
  • 457
  • 19 Feb 2024
Topic Review
Carcinomas on Autosomal Trait Screening
In DNA typing or genetic fingerprinting, variable elements are isolated and identified within the base pair sequences that form the DNA. The person’s probable identity can be determined by analysing nucleotide sequences in particular regions of DNA unique to everyone.
  • 455
  • 14 Sep 2023
Topic Review
Biological Age vs. Disease using the 10-CpG Clock
DNA methylation-based epigenetic clocks are powerful tools for quantifying biological ageing and detecting health-related ageing acceleration. Building on recent work introducing a cost-effective saliva-based 10-CpG methylation clock, this study evaluates its performance and biological relevance across five cohorts: Excellent Health, Fatigue, Fibromyalgia, Dementia, and Colon Cancer. Using cohort-level regression models, CpG–age association testing, and methylation profiling, we examined both age-prediction accuracy and disease-related methylation patterns. The clock demonstrated high accuracy across all cohorts (Pearson r = 0.77–0.86, R² = 0.60–0.75, MAE ≈ 5–6 years), closely matching the validation performance reported in the original study. Disease cohorts exhibited significant epigenetic age acceleration, with mean predicted ages +8–12 years older than chronological age, while the Excellent Health group showed a modest negative deviation (≈ −5 years). CpG-level ANOVA revealed ELOVL2 (cg16867657) as the strongest age-associated marker, alongside CHGA, OTUD7A, PRLHR, and LHFPL4, highlighting key roles for lipid metabolism, neuroendocrine signalling, and proteostasis in ageing biology. Together, these findings confirm that a minimal 10-CpG clock can robustly capture biological age, distinguish health status, and provide mechanistic insight into chronic disease and ageing processes. This compact assay offers a scalable and clinically relevant biomarker platform for population health monitoring, risk stratification, and personalised health interventions.
  • 445
  • 03 Sep 2025
Topic Review
Genetic Code Symmetries Support Wobbling in Proteinogenesis
Genetic code symmetries in form of the Supersymmetry Genetic Code (SSYGC) table support the wobble hypothesis with non-Watson–Crick pairing interactions between the translation process from mRNA to tRNA. Namely, in 1966 F.H.C. Crick proposed the wobble hypothesis to explain this partial degeneracy. Without symmetries of genetic code wobbling interaction can have misreading error in proteinogenesis.
  • 439
  • 06 Feb 2025
Topic Review
The Role of Genetic Polymorphisms in Diabetic Retinopathy
Diabetic retinopathy (DR) is renowned as a leading cause of visual loss in working-age populations with its etiopathology influenced by the disturbance of biochemical metabolic pathways and genetic factors, including gene polymorphism. Metabolic pathways considered to have an impact on the development of the disease, as well as genes and polymorphisms that can affect the gene expression, modify the quantity and quality of the encoded product (protein), and significantly alter the metabolic pathway and its control, and thus cause changes in the functioning of metabolic pathways.
  • 409
  • 08 Nov 2023
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