Ellis-van Creveld syndrome is a rare genetic disorder which causes dwarfism and bone problems, among other developmental defects. Read on to learn more about this condition and its underlying genetic cause.
Inherited Traits, Mutations, DNA & Genes
Ever wonder where you got your blue eyes or red hair? What DNA traits dictate freckles or dimples? Read all about your inherited traits, DNA and genes as well as fascinating articles on mutations and mutated chromosomes.
Harlequin ichthyosis is an inherited skin disorder that is often lethal and always very debilitating. Read on to learn more about this rare genetic condition and its underlying genetic cause.
Do you know the possible gene mutations that cause cancer? If not, read on to learn more about them.
Epidermolysis bullosa simplex is a rare inherited disease in which the skin readily blisters in response to minor injury or friction. Read all about epidermolysis bullosa simplex and the known epidermolysis bullosa simplex mutations here.
The ribonuclease-1 gene is involved in many important processes in our bodies. This article describes this interesting gene, what it does in the human body, and the ribonuclease-1 gene mutations and the genetic studies that have helped biologists characterize its molecular function.
Are you interested in learning more about chromosome structure changes? If so, read on to learn about what they are and what they mean.
The elastase 2 (ELA2) gene codes for the enzyme neutrophil elastase which is secreted by white blood cells called neutrophils. The enzyme is essential for effective anti bacterial immune responses. Therefore, elastase 2 gene mutation can result in severely impaired immunity.
Prothrombin gene mutation, or PT gene mutation, is one cause of a condition called thrombophilia. People with this condition are at increased risk of blood clots and venous thromboses.
Are you seeking information on polygenic traits? If so, read on to learn what they are and what the characteristics are.
The ALK gene codes for a protein which, when mutated, has the potential to cause certain types of cancer. The discovery of the gene means the possible development of new treatments for these cancers. This article discusses the link between ALK gene mutation and cancer treatment.
Have you been wondering about the different gene mutation types? If so, read on to learn what they are and what their affects are.
Is spontaneous self-correction of gene mutations possible? The short answer is yes. However, that’s not as exciting as it sounds. Read on to learn more about what mutations are and how they work.
The protein encoded by the MTP gene is involved in the assembly of lipoproteins. MTP gene mutation may lead to a rare disease called abetalipoproteinemia. Genetic variations of the gene have been associated with central obesity, alcoholic fatty liver disease, and cardiovascular diseases.
The BRAF gene is a serine/threonine protein kinase. BRAF gene mutation has been associated with different kinds of cancer, such as lung cancer, colon cancer, thyroid cancer, melanoma, and non-Hodgkin lymphoma. This gene has been suggested as an important target for cancer treatment.
MTHFR is an enzyme essential for the homeostasis and normal metabolism of intracellular folate. MTHFR gene mutation has been related to many diseases including colon cancer, leukemia, vascular disease, depression, schizophrenia, migraine with aura, glaucoma, Down syndrome, and neural tube defects.