The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

In genomic medicine, the concept of genetically transitional disease (GTD) refers to cases in
which gene mutation is necessary but not sufficient to cause disease. In this Perspective, we …

Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by
altering the protein function. Thus, systematically curated clinically relevant genotype …

Rare genetic diseases are rare by themselves with prevalence of 1 in 25,000, but
collectively they are a significant cause of morbidity and mortality. Till date, collectively there …

Background Both non-obstructive azoospermia (NOA) and primary ovarian insufficiency
(POI) are pathological conditions characterized by premature and frequently complete …

Alopecia areata (AA) is an autoimmune form of non-scarring hair loss that occurs on a
spectrum from patchy loss of hair on the scalp, to complete hair loss. Histology features can …

It is increasingly evident that LRRK2 kinase activity is involved in oxidative stress (OS)‐
induced apoptosis—a type of regulated cell death and neurodegeneration, suggesting …

Illnesses that afflict a tiny number of individuals are referred to as rare diseases (RDs),
sometimes called orphan diseases. The local healthcare systems are constantly under …

Abstract Background While Parkinson's disease (PD) etiology is not clear yet, accumulated
alpha-synuclein is proposed to induce neurodegeneration. Selenium (Se) and its functional …

The cytochrome c oxidase 20 (COX20) gene encodes a protein with a crucial role in the
assembly of mitochondrial complex IV (CIV). Mutations in this gene can result in ataxia and …