Researchers at Wake Forest University Baptist Medical Center and the University of Pittsburgh report in the current Journal of Medical Genetics that they have found defects in the gene that produces a common protein in urine and that these defects are linked to two inherited kidney diseases.
For six years, the researchers had studied a family from Western North Carolina that has been plagued with a rare kidney disease, trying to learn more about the genetics of the disease. Anthony J. Bleyer, M.D., associate professor of internal medicine (nephrology) at Wake Forest, said the gene ordinarily produces a protein called either uromodulin or Tamm-Horsfall protein. Uromodulin is the most common protein released into the urine, but its function is unclear.
Bleyer said that Thomas C. Hart, D.D.S., Ph.D. of the University of Pittsburgh and formerly of Wake Forest, had identified mutations in the gene leading to defects in the protein. Defects in this protein led to a disease called familial juvenile hyperuricemic nephropathy in the North Carolina family and two other families. It also appears responsible for a disease called medullary cystic kidney disease Type 2 in another family.
Robert Conn | alfa
Closing in on advanced prostate cancer
13.12.2017 | Institute for Research in Biomedicine (IRB Barcelona)
Visualizing single molecules in whole cells with a new spin
13.12.2017 | Wyss Institute for Biologically Inspired Engineering at Harvard
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
13.12.2017 | Health and Medicine
13.12.2017 | Physics and Astronomy
13.12.2017 | Life Sciences