Search Results for "Microcephaly Lifespan"

23:31 EDT 31st 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

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.

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

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...

Scientists find class of drugs that boosts healthy lifespan

A research team from The Scripps Research Institute (TSRI), Mayo Clinic and other institutions has identified a new class of drugs that in animal models dramatically slows the aging process—alleviat...

Scientists Find Class of Drugs that Boosts Lifespan: Animal Study

A research team from The Scripps Research Institute (TSRI), Mayo Clinic and other institutions has identified a new class of drugs that in animal models dramatically slows the aging process—alleviat...

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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...

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 ...

New guidance is needed on diagnosing microcephaly in severely malnourished children.

The American Academy of Pediatrics recommends that all children have a headcircumference measurement at each well-child visit until two years of age. Low head circumference is associated with preterm ...

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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