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Latest Bardet-Biedl syndrome Stories

2012-04-25 09:45:04

Primary cilia are hair-like structures which protrude from almost all mammalian cells.

2011-12-14 10:10:38

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.

2011-04-06 23:04:59

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.

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2011-01-24 08:10:00

Despite what you might have heard, genetic sequencing alone is not enough to understand human disease.

2010-06-25 13:25:23

Nearly all mammalian cells have what's called a primary cilium — a single, stump-like rod projecting from the smooth contours of the cell's outer membrane.

2010-05-24 14:57:03

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.

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2009-12-28 09:33:28

A protein complex mutated in human disease removes excess signaling molecules to prevent them from damaging cilia.

2009-08-10 11:40:08

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.

2009-05-11 07:39:13

The mystery of genetic disease is only partially solved with the identification of a mutated gene. Often, the pattern of disease – the features or disorders associated with it – vary in type and severity among those who are affected. Scientists, physicians and patients all ask why.

2008-08-20 15:01:11

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.


Word of the Day
megalophonous
  • Having a loud voice; vociferous; clamorous.
  • Of grand or imposing sound.
The word 'megalophonous' comes from Greek roots meaning 'big' and 'sound'.