A genetic variant that can explain the occurrence of a type of rheumatic disorder called SLE has been identified by a research team at Uppsala University, Sweden. The team, led by Associate Professor Marta Alarcón at the Rudbeck Laboratory, is presenting its finding in the latest issue of the scientific journal Nature Genetics.
Nearly 6,000 predominantly young women are victims of systemic lupus erythematosus, SLE. The disease is partly genetic and causes damage to the skin and various organs. The genetic variant in the gene PDCD1 was identified in families with at least two persons suffering from the ailment. Genetic analyses have shown that the part where the gene PDCD1 is located in chromosome 2 is implicated in the disease.
The research team has determined the position of the gene with still greater precision and has sequenced the whole gene. They found several variants, but only one of them repeatedly turned up in the family members with the sickness. In order to make certain that the variant is associated with the ailment, the team studied nearly 2,500 individuals including families in the US. The variant is found in some of the patients and can explain one of the mechanisms behind the development of the disease. The genetic variant in the PDCD1 gene can modify the normal function and expression of the gene, but it is still unclear exactly how.
Jon Hogdal | alfa
Plasmonic biosensors enable development of new easy-to-use health tests
14.12.2017 | Aalto University
ASU scientists develop new, rapid pipeline for antimicrobials
14.12.2017 | Arizona State University
MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.
Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...
Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...
Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.
To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...
The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.
Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...
With innovative experiments, researchers at the Helmholtz-Zentrums Geesthacht and the Technical University Hamburg unravel why tiny metallic structures are extremely strong
Light-weight and simultaneously strong – porous metallic nanomaterials promise interesting applications as, for instance, for future aeroplanes with enhanced...
11.12.2017 | Event News
08.12.2017 | Event News
07.12.2017 | Event News
14.12.2017 | Health and Medicine
14.12.2017 | Physics and Astronomy
14.12.2017 | Life Sciences