The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical ...

In one patient, we discovered a new mutation p.Gly477Ala (c.1430G>C) in exon 14 that has not yet been identified. The presence of these variants and their allelic forms (heterozygous / homozygous) ...

Objective Based on patients with severe decapitated and decaudated spermatozoa (DDS) syndrome, the study aimed to validate whether new mutation exists on their Hook microtubule-tethering protein 1 ...

Objectives Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical progression in ...

To search for mutations, we designed overlapping primer pairs to amplify the complete ORNT1 ORF in overlapping segments. We generated first strand cDNA with primers DV3459 (antisense, 5 ...

In a family of 15 people in northern Italy, six developed late-onset Alzheimer’s disease – and when researchers ran genetic tests, all six had a rare mutation in a protein-coding gene known as ...

Summary: A new study has uncovered a direct link between somatic mutations and epigenetic modifications, challenging established views on aging. Researchers found that random genetic mutations drive ...

But while it’s common for Japanese movie theaters to sell memorabilia at gift shops in their lobbies, this tie-up has more to do with another aspect of Shochiku’s business, as it also operates some of ...

In this review, we will examine select neurodevelopmental conditions that arise from mutations in genes encoding enzymes that regulate histone methylation and acetylation. The methylation-related ...

Prenatal testing for Down syndrome can help you understand your baby’s development before birth and provide information to guide your pregnancy journey. Read on to learn more about prenatal ...

Cuboid syndrome is a condition caused by an injury to the joint and ligaments surrounding the cuboid bone. The cuboid bone is one of the seven tarsal bones in the foot. Cuboid syndrome causes pain ...