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News tagged with fragile

Back to (brain) basics

(PhysOrg.com) -- In his own words, MIT neuroscientist Mark Bear admits he did not "wake up one day and say 'Hey, I'm going to cure autism.'" But, after decades of painstaking basic research on how the brain ...

Medicine & Health / Neuroscience

created Nov 03, 2009 | popularity 4.5 / 5 (8) | comments 0

New clue why autistic people don't want hugs

Why do people with fragile X syndrome, a genetic defect that is the best-known cause of autism and inherited mental retardation, recoil from hugs and physical touch - even from their parents?

Medicine & Health / Neuroscience

created Feb 11, 2010 | popularity 4.6 / 5 (7) | comments 0 | with audio podcast

Researchers uncover Fragile X syndrome gene's role in shaping brain

Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the "pruning" of nerve connections ...

Medicine & Health / Neuroscience

created May 07, 2010 | popularity 4.8 / 5 (6) | comments 1 | with audio podcast

Neuroscientists identify synaptic defect in brain area involved in Fragile X syndrome

Researchers at India's National Centre for Biological Sciences (NCBS) and New York University's Center for Neural Science have identified novel synaptic defects in an area of the brain that is involved in the debilitating ...

Medicine & Health / Neuroscience

created Jun 07, 2010 | popularity 4.8 / 5 (4) | comments 0 | with audio podcast

Promising new drug being evaluated as possible treatment option for fragile X syndrome

A pilot trial of an oral drug therapy called fenobam has shown promising initial results and could be a potential new treatment option for adult patients with Fragile X syndrome (FXS). Findings of the open label, single-dose ...

Medicine & Health / Diseases, Conditions, Syndromes

created Jan 07, 2009 | popularity 5 / 5 (3) | comments 0

Chemists Rationally Design Inhibitors Against an RNA Molecule that Causes Myotonic Muscular Dystrophy

(PhysOrg.com) -- Chemists at the University at Buffalo have used rational drug design to synthesize small, cell-permeable molecules that are effective in vitro against two common types of myotonic muscular ...

Chemistry / Biochemistry

created Aug 07, 2009 | popularity 5 / 5 (3) | comments 0

Genomic fault zones come and go

The fragile regions in mammalian genomes that are thought to play a key role in evolution go through a "birth and death" process, according to new bioinformatics research performed at the University of California, ...

Biology / Biotechnology

created Nov 30, 2010 | popularity 5 / 5 (3) | comments 0 | with audio podcast

Biologists discover link between CGG repeats in DNA and neurological disorders

Researchers have long known that some repetitive DNA sequences can make human chromosomes "fragile," i.e. appearing constricted or even broken during cell divisions. Scientists at Tufts University have found that one such ...

Biology /

created Jan 11, 2009 | popularity 5 / 5 (2) | comments 0

Small molecules might block mutant protein production in Huntington's disease

Molecules that selectively interfere with protein production can stop human cells from making the abnormal molecules that cause Huntington's disease, researchers at UT Southwestern Medical Center have found.

Biology / Biotechnology

created May 03, 2009 | popularity 5 / 5 (2) | comments 0

Bone's material flaws lead to disease: Tiny rifts create fragility of brittle bone disease

(PhysOrg.com) -- The weak tendons and fragile bones characteristic of osteogenesis imperfecta, or brittle bone disease, stem from a genetic mutation that causes the incorrect substitution of a single amino ...

Medicine & Health / Medical research

created Aug 04, 2009 | popularity 5 / 5 (2) | comments 0

Fragile X protein loss alters brain pathways responsible for learning and memory

Geneticists have known for two decades that fragile X syndrome, the most common inherited cause of intellectual disability, is due to the functional loss of fragile X mental retardation protein (FMRP) in the brain. Now they ...

Medicine & Health / Genetics

created Apr 08, 2010 | popularity 5 / 5 (2) | comments 0 | with audio podcast

Scientists glimpse dance of skeletons inside neurons

Scientists at Emory University School of Medicine have uncovered how a structural component inside neurons performs two coordinated dance moves when the connections between neurons are strengthened.

Medicine & Health / Neuroscience

created Sep 13, 2010 | popularity 5 / 5 (2) | comments 0 | with audio podcast

New registry to accelerate research on fragile X syndrome

(PhysOrg.com) -- As researchers delve further into the genetic basis for disease, they face a conundrum: finding enough affected people who can fill out a true picture of mutations that can vary from one person to another. ...

Medicine & Health / Diseases, Conditions, Syndromes

created Oct 06, 2010 | popularity 5 / 5 (2) | comments 0

Methylated markers in Fragile X

A "fingerprint" on a key gene in certain groups of people with Fragile X syndrome may be a litmus test for which patients can benefit from a new drug, reports a recent study of 30 patients with the syndrome. Fragile X is ...

Medicine & Health / Genetics

created Jan 06, 2011 | popularity 5 / 5 (2) | comments 0

Clinical tests begin on medication to correct Fragile X defect

NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common ...

Medicine & Health / Neuroscience

created Nov 02, 2009 | popularity 4.5 / 5 (2) | comments 0