Tag Archives: mutation

A hereditary mutation in Schwartz-Jampel syndrome

Schwartz-Jampel syndrome (SJS) type 1, also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by short stature, neuromyotonia (sustained contraction of skeletal muscles), chondrodysplasia (abnormal development of the cartilage of long bones), joint contractures,

How cancer cells resist the action of microtubule-targeting chemotherapeutic drugs? A study of β-tubulin mutations

Microtubules (MTs) are essential structural components of cells. They are made up of polymers of protein subunits of α,β-tubulin and are highly dynamic, undergoing rapid phases of assembly and disassembly. The dynamic behavior of MTs is essential

Conditional mutations in drosophila

In 1865, Gregor Mendel discovered the laws of inheritance for the traits of living organisms. Reproduction, the major property of living matter and mode of its existence in the Universe, found itself in the spotlight of biology.

GLI mutations in patients with Hirschsprung disease

Hirschsprung (HSCR) disease (congenital megacolon) is one of the more common birth defects. It is a global problem but is particularly prevalent in Asia, affecting 1 in 3000 babies. These babies suffer from severe constipation and intestinal

Repair of damaged genetic material in humans

Living organisms across the evolutionary scale protect their genetic material (DNA) by repairing the constant threat of damage posed by environmental radiations, toxic chemicals, and byproducts of cellular metabolism. In the early 60s, Setlow and Howard-Flanders at