Search Results for "Microcephaly Lifespan"

01:18 EDT 2nd July 2015 | BioPortfolio

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A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

Andrew Crosby, David Silver and colleagues show that a partially inactivating mutation in MFSD2A causes a non-lethal microcephaly syndrome with symptoms that include intellectual disability, spasticit...

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Joseph Gleeson, David Silver and colleagues show that inactivating mutations in MFSD2A, which encodes an essential transporter of long-chain fatty acids in brain, cause a lethal microcephaly syndrome....

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Brain develops abnormally over lifespan of people who stutter

(University of Alberta) The largest-ever MRI imaging study of stuttering is the first to examine brain changes across the lifespan, says UAlberta researcher and ISTAR executive director.

Prolonging lifespan: Researchers create 'Methuselah fly' by selecting best cells

Scientists have managed to considerably prolong the lifespan of flies by activating a gene which destroys unhealthy cells. The results could also open new possibilities in human anti-aging research.

New class of drugs dramatically increases healthy lifespan, mouse study suggests

Scientists have identified a new class of drugs that in animal models dramatically slows the aging process -- alleviating symptoms of frailty, improving cardiac function and extending a healthy lifesp...

Reducing Myc gene activity extends healthy lifespan in mice

A team of scientists based at Brown University has found that reducing expression of a fundamentally important gene called Myc significantly increased the healthy lifespan of laboratory mice, the firs...

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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-seve...

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report.

The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.

PCH-2 regulates Caenorhabditis elegans lifespan.

Components or downstream targets of many signaling pathways such as Insulin/IGF-1 and TOR, as well as genes involved in cellular metabolism and bioenergetics can extend worm lifespan 20% or more. The ...

Mitochondrial and Cytoplasmic ROS Have Opposing Effects on Lifespan.

Reactive oxygen species (ROS) are highly reactive, oxygen-containing molecules that can cause molecular damage within the cell. While the accumulation of ROS-mediated damage is widely believed to be o...

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes have been reported in primary microcephaly and Seckel syndrome, disorders without the hallmark clinical feat...

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