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Topic Review
CYBB Gene
Cytochrome B-245 Beta Chain: The CYBB gene provides instructions for making a protein called cytochrome b-245, beta chain (also known as p91-phox).
  • 599
  • 23 Dec 2020
Topic Review
TWIST1 Gene
Twist family bHLH transcription factor 1.
  • 595
  • 23 Dec 2020
Topic Review
TSEN34 Gene
tRNA splicing endonuclease subunit 34
  • 594
  • 22 Dec 2020
Topic Review
Multiple Sulfatase Deficiency
Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.
  • 594
  • 23 Dec 2020
Topic Review
Huntington Disease-Like Syndrome
As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease.
  • 593
  • 23 Dec 2020
Topic Review
KIF21A Gene
Kinesin family member 21A
  • 593
  • 23 Dec 2020
Topic Review
Glycoprotein VI Deficiency
Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots.
  • 593
  • 23 Dec 2020
Topic Review
Juvenile Primary Osteoporosis
Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture.
  • 592
  • 23 Dec 2020
Topic Review
DNA Barcoding Study of Thymus Species
Genetic diversity, evolution and phylogeny of Thymus species have received considerable attention, with application of newly developed methods. DNA barcoding is one of the modern methods applied successfully to the taxonomy of various groups of living organisms. DNA barcoding has been successfully applied for identifying different species in commercial samples of herbs and for the identification of different Lamiaceae species. However, its application to infrageneric Thymus taxonomy did not allow definite conclusions.
  • 592
  • 04 Mar 2022
Topic Review
NKX2-1 Gene
NK2 homeobox 1
  • 591
  • 23 Dec 2020
Topic Review
Calcium Handling in Inherited Cardiac Diseases
Calcium (Ca2+) is the major mediator of cardiac contractile function. It plays a key role in regulating excitation–contraction coupling and modulating the systolic and diastolic phases. Defective handling of intracellular Ca2+ can cause different types of cardiac dysfunction. Thus, the remodeling of Ca2+ handling has been proposed to be a part of the pathological mechanism leading to electrical and structural heart diseases. Indeed, to ensure appropriate electrical cardiac conduction and contraction, Ca2+ levels are regulated by several Ca2+-related proteins.
  • 590
  • 16 Feb 2023
Topic Review
HLA-DRB1 Gene
Major histocompatibility complex, class II, DR beta 1
  • 586
  • 23 Dec 2020
Topic Review
Kniest Dysplasia
Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.
  • 583
  • 23 Dec 2020
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.
  • 583
  • 03 Sep 2025
Topic Review
KCNQ2 Gene
Potassium voltage-gated channel subfamily Q member 2
  • 582
  • 23 Dec 2020
Topic Review
MicroRNAs in Parkinson’s Disease/Diabetes Mellitus
Parkinson’s disease (PD) is a neurodegenerative disorder that affects 1% of the population over the age of 60. Diabetes Mellitus (DM) is a metabolic disorder that affects approximately 25% of adults over the age of 60. Recent studies showed that DM increases the risk of developing PD. The link between DM and PD has been discussed in the literature in relation to different mechanisms including mitochondrial dysfunction, oxidative stress, and protein aggregation. 
  • 579
  • 27 Apr 2021
Topic Review
Isolated Duane Retraction Syndrome
Isolated Duane retraction syndrome is a disorder of eye movement.
  • 578
  • 23 Dec 2020
Topic Review
HSD17B4 Gene
Hydroxysteroid 17-beta dehydrogenase 4
  • 577
  • 23 Dec 2020
Topic Review
Mucolipidosis III Alpha/Beta
Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly over time.
  • 577
  • 23 Dec 2020
Topic Review
MSX2 Gene
msh homeobox 2
  • 574
  • 23 Dec 2020
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