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Latest Meckel syndrome Stories

2012-04-25 09:45:04

Primary cilia are hair-like structures which protrude from almost all mammalian cells. They are thought to be sensory and involved in sampling the cell's environment. New research, published in BioMed Central's open access journal Cilia, launched today, shows that cilia on cells in the retina and liver are able to make stable connections with each other - indicating that cilia not only are able to sense their environment but are also involved in cell communication. Primary cilia are...

2011-07-11 17:52:27

Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome and several other disorders. The work gives doctors new possible targets for designing better diagnostics to detect and drugs to treat these diseases, which together affect perhaps one in 200 people in the United States. On the surface, these diseases look very...

2010-09-07 13:07:40

A new study in the September 6 issue of the Journal of Cell Biology (www.jcb.org) helps define the role of an important ciliary protein, CEP290. The results could be applied toward targeted gene therapy in cilia-related diseases. Mutations in human CEP290 cause cilia-related disorders that range in severity from isolated blindness to perinatal death. CEP290 mutations are known to cause Meckel syndrome, Joubert syndrome, and NPHP"”the most common syndromic form of cystic kidney disease...

2010-05-31 13:13:10

An international group of researchers has identified the genetic cause of an inherited condition that causes severe fetal abnormalities. The work, co-led by geneticists at the UCSD Institute for Genomic Medicine, together with colleagues from institutes and universities in Paris, Rome and England, should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruber and Joubert syndromes to be identified beforehand through genetic screening. The researchers' findings...

2010-05-31 13:04:07

An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities. The work, co-led by geneticists at the University of Leeds, together with colleagues from institutes and universities in Paris, Rome and San Diego, should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruber and Joubert syndromes to be identified beforehand through genetic screening. Their findings, which show how the...

2008-09-07 03:00:06

By Paetau, Anders Honkala, Heli; Salonen, Riitta; Ignatius, Jaakko; Kestila, Marjo; Herva, Riitta Abstract Hydrolethalus syndrome is a lethal malformation syndrome with a severe brain malformation, most often hydrocephaly and absent midline structures. Other frequent findings are micrognathia, polydactyly, and defective lobation of the lungs. Hydrolethalus syndrome is inherited in an autosomal recessive manner and is caused by a missense mutation in the HYLS1 gene. Here, we report the...


Word of the Day
omphalos
  • The navel or umbilicus.
  • In Greek archaeology: A central boss, as on a shield, a bowl, etc.
  • A sacred stone in the temple of Apollo at Delphi, believed by the Greeks to mark the 'navel' or exact center-point of the earth.
'Omphalos' comes from the ancient Greek.
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