Ichthyosis Related Research Articles

ELOVL4 Deficiency - William B. Rizzo, MD - 2011
A New Form of Ichthyosis Discovered by Next-Generation DNA Sequencing
Recent advances in “Next-Generation” DNA sequencing technologies promise to revolutionize the ability to diagnose patients with genetic diseases and discover new forms of ichthyosis not previously recognized. These new methods, including “whole exome sequencing”, allow researchers to detect alterations or mutations in the functional parts of all of the genes. A recent example of the power of these DNA sequencing methods is the identification of a new form of ichthyosis caused by mutations in the gene called ELOVL4 that codes for an enzyme with the same name.
Frontiers in Ichthyosis Research  -  2010
Meeting Report
Frontiers in Ichthyosis Research, an international meeting of investigators actively involved in research directly related to ichthyosis, was held in June 2010, immediately preceded FIRST's bi-ennial family conference.
Zebrafish Model  -  Qiaoli Li, PhD; Jouni Uitto, MD, PhD   -  2010
How to make ichthyosis (fish scale disease) in fish
Ichthyosis (derived from the ancient Greek word meaning “fish”)refers to a group of disorders in which skin is dry and scaly often from birth. There is quite a lot of variability in the severity of this skin condition: In the milder forms skin is just dry, especially during winter months, while in the most severe cases, large scales are present which can affect the individual’s well being and survival. Through the work of several investigators, it is now clear that alterations in many different genes can cause ichthyosis in patients, and the types of mutations and the genes harboring such mutations can explain the tremendous variability in the disease severity.
Dominant Mutations in KRT10  -   Keith Choate, MD, PhD et al.  -  2010 
Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
Errors in the copying of genes during cell division can cause numerous diseases, including cancer. Yale School of Medicine scientists, however, have unraveled the secrets of a rarer phenomenon with potential therapeutic implications–disease-causing genes that show a high frequency of self-repair. In the August 26 issue of Science Express, the Yale team describes how one mutated copy of a gene called keratin 10 causes a severe skin disease known as ichthyosis with confetti. However, amidst the diseased skin, these patients also have hundreds to thousands of spots of normal skin.
 
TGM1 Mutations  -  Richard L. Eckert, PhD; Haibing Jiang, PhD  -  2010
Research identifies new mechanism by which TGM1 mutations may cause ichthyosis (2010)
It has been known for nearly a decade that the type I transglutaminase gene is mutated in at least 50% of all cases of autosomal recessive congenital ichthyosis (ARCI). However, understanding how these mutations lead to disease pathology is not well understood. As part of an effort to better understand the cause of this disease, Dr. Richard Eckert and colleagues at the University of Maryland School of Medicine in Baltimore recently studied the subcellular processing of normal and mutant transglutaminase in human skin cells.

« Back to Previous Page