Latest Bardet-Biedl syndrome Stories
Primary cilia are hair-like structures which protrude from almost all mammalian cells.
A new study, conducted by researchers at the University of California, San Francisco, has shed new light on a genetic disease known as Bardet-Biedl syndrome (BBS)—a condition in which patients show mental and developmental delays, short stature, early onset blindness, extra digits on the hands and feet, kidney abnormalities and obesity.
An international team of scientists lead by researchers from Duke University and Johns Hopkins University have discovered a key "switch" in the brain that allows neurons to stop dividing so that these cells can migrate toward their final destinations in the brain.
Despite what you might have heard, genetic sequencing alone is not enough to understand human disease.
Nearly all mammalian cells have what's called a primary cilium â€” a single, stump-like rod projecting from the smooth contours of the cell's outer membrane.
A research team led by scientists from the Duke University Medical Center has developed a way to simultaneously look at the effects of 125 mutations occurring on 14 different genes.
A protein complex mutated in human disease removes excess signaling molecules to prevent them from damaging cilia.
U.S.-led researchers have discovered a connection between mutations in the INPP5E gene and ciliopathies, a newly emerging group of diseases. The international team of scientists, led by Dr.
The mystery of genetic disease is only partially solved with the identification of a mutated gene. Often, the pattern of disease â€“ the features or disorders associated with it â€“ vary in type and severity among those who are affected. Scientists, physicians and patients all ask why.
U.S.-led scientists say they've identified a critical protein complex in the growth of cell cilia that might have a key role in many serious diseases.
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