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BUSM part of Transthyretin Amyloidosis Cardiac Study

Researchers at Boston University School of Medicine (BUSM) have been part of a multicenter observational study called TRACS (Transthyretin Amyloidosis Cardiac Study) to help determine the health significance of a particular gene mutation which is commonly found in Black Americans.

14 Aug 2012

Scientists dissect how sperm cells of the fruit fly build their flagella

Sperm swim, lung cells sweep mucus away, and the cells in the female Fallopian tube move eggs from the ovary to the uterus. Underlying these phenomena are flagella - slender, hair-like structures extending from the surface of the cells, that bend, beat or wave rhythmically. In the latest issue of the journal Developmental Cell, scientists from the Instituto Gulbenkian de Ciência (IGC), in Portugal, have dissected how sperm cells of the fruit fly build their flagella.

14 Aug 2012

Researchers solve hepatitis C vaccine mystery

Researchers at the Burnet Institute have solved a hepatitis C vaccine mystery which, once developed could be the first ever preventative vaccine for the virus.

13 Aug 2012

Novel Cornelia de Lange syndrome gene discovered

Scientists have discovered that mutations in the histone deacetylase 8 gene can cause the rare genetic disorder known as Cornelia de Lange syndrome, which is characterized by intellectual disability, limb deformity, and other disabilities resulting from problems in early development.

13 Aug 2012

Smoking is bad for your sperm

In men with varicocele, smoking alters semen quality and sperm function as well as inducing seminal oxidative stress, report researchers.

13 Aug 2012

Streptococcal tonsillopharyngitis recurrence linked to vitamin D deficiency

There is a significant association between recurrent group A streptococcal tonsillopharyngitis and vitamin D deficiency, say Israeli researchers who call for research into whether supplementation could prevent the condition.

13 Aug 2012

Ingredient for butter flavor in microwave popcorn is a respiratory hazard

The ingredient 2,3-pentanedione (PD), used to impart the flavor and aroma of butter in microwave popcorn, is a respiratory hazard that can also alter gene expression in the brain of rats. Manufacturers started using PD when another butter flavoring, diacetyl, was found to cause bronchiolitis obliterans, a life-threatening and nonreversible lung disease in workers who inhaled the substance.

13 Aug 2012

Researchers identify new gene in Cornelia deLange syndrome

Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that control both gene expression and cell division, the research sheds light on this disease, which causes intellectual disability, limb deformations and other disabilities resulting from impairments in early development.

13 Aug 2012

Fluorescent molecules 'tag' DNA and monitor looping process

In a new study, UT Dallas researchers outline how they used fluorescent molecules to "tag" DNA and monitor a process called DNA looping, a natural biological mechanism involved in rearranging genetic material in some types of cells.

13 Aug 2012

Researchers discover gene mutations linked to spinocerebellar ataxia

A global hunt for the cause of a crippling inherited nerve disorder has found its target. The discovery opens the door for better diagnosis and treatment of this particular disease - but also for better understanding of why nerves in the brain's movement-controlling center die, and how new DNA-mapping techniques can find the causes of other diseases that run in families.

13 Aug 2012

Latrepirdine demonstrates new potential against neurodegenerative conditions

The second of two studies on latrepirdine, recently published in Molecular Psychiatry, demonstrates new potential for the compound in the treatment of Alzheimer's disease, Parkinson's disease, sleep disorders, and other neurodegenerative conditions. An international team led by Mount Sinai School of Medicine scientists found that latrepiridine, known commercially as Dimebon, reduced the level of at least two neurodegeneration-related proteins in mice.

13 Aug 2012

New personal care product for circumcised men

Centric Research Institute today launched CIRCUMserum, the first personal care product formulated specifically for use by circumcised men. CIRCUMserum is a daily moisturizing cream made from a patent-pending blend of essential botanical oils designed to condition areas of the penis dulled by the constant exposure resulting from circumcision.

13 Aug 2012

Insight into ubiquitin system

A faulty gene linked to a rare blood vessel disorder has led investigators to discover a mechanism involved in determining the fate of possibly thousands of proteins working inside cells.

13 Aug 2012

HDAC8 gene mutations cause Cornelia deLange syndrome

13 Aug 2012

Research focuses on evolution of sex and gamete function

The propagation of every animal on the planet is the result of sexual activity between males and females of a given species. But how did things get this way? Why two sexes instead of one? Why are sperm necessary for reproduction and how did they evolve? These as-yet-unresolved issues fascinate Timothy Karr, a developmental geneticist and evolutionary biologist at Arizona State University's Biodesign Institute.

13 Aug 2012

Scientists discover how pten gene causes brain changes that lead to autism-like behavior

Scientists affiliated with the UC Davis MIND Institute have discovered how a defective gene causes brain changes that lead to the atypical social behavior characteristic of autism. The research offers a potential target for drugs to treat the condition.

13 Aug 2012

Reducing copper in the body delays onset of prion disease

Many of us are familiar with prion disease from its most startling and unusual incarnations-the outbreaks of "mad cow" disease (bovine spongiform encephalopathy) that created a crisis in the global beef industry. Or the strange story of Kuru, a fatal illness affecting a tribe in Papua New Guinea known for its cannibalism. Both are forms of prion disease, caused by the abnormal folding of a protein and resulting in progressive neurodegeneration and death.

13 Aug 2012

Scientists take step toward developing blood test for Alzheimer's

The possibility of an inexpensive, convenient test for Alzheimer's disease has been on the horizon for several years, but previous research leads have been hard to duplicate.

12 Aug 2012

Molecular missteps disrupt brain function in adult-onset muscular dystrophy

The molecular missteps that disrupt brain function in the most common form of adult-onset muscular dystrophy have been revealed in a new study published by Cell Press. Myotonic dystrophy is marked by progressive muscle wasting and weakness, as well as excessive daytime sleepiness, memory problems, and mental retardation.

10 Aug 2012

Nanofibers and VEGF hold promise for cardiovascular repair

A National Cheng Kung University research team has made a breakthrough in the regeneration of new blood vessels in cardiovascular therapy by using nanofibers and vascular endothelial growth factor.

10 Aug 2012