Tag: "pinpointed" at biology news

International human genome sequencing consortium describes finished human genome sequence

...ing them to stop functioning, or "die." Scientists pinpointed these non-functioning genes, referred to as pseudogenes, in the human genome by aligning them with the mouse and rat genomes, in which the corresponding genes have maintained their functionality. Interestingly, researchers determined that 10 of these...

Single genetic defect links many risk factors for heart disease and stroke

...protein chain. The defective base the researchers pinpointed was in the gene for the tRNA that transports the amino acid isoleucine. That defect distorted the docking region of the tRNA, preventing it from recognizing and attaching to the messenger RNA to deposit its isoleucine cargo. Thus, the faulty tRNA cou...

Deciphering an autism mystery

...aller cerebellum. And while scientists had not yet pinpointed a gene that causes autism, they had identified a particular region of a chromosome that is inherited by autistic children more often than their nonautistic siblings--a clue that the region contributes to the disease. Millonig and Brzustowicz realized...

Where the brain harbors unconscious fears

...nconscious level of anxiety. Now, researchers have pinpointed a region of the brain that filters such threats through a person's basic anxiety level. Amit Etkin, Joy Hirsch, Eric Kandel and colleagues at the Columbia University College of Physicians and Surgeons that a specific region of the amygdala shows grea...

First 'atlas' of key brain genes could speed research on cancer, neurological diseases

...ated structures. Although the gene regulators were pinpointed using mouse brains, the map applies to the human brain as well."This is the first systematic mapping of all of the major brain areas that shows what regulatory genes are expressed in those specific locations," said Quifu Ma, PhD, of Dana-Farber's Can...

Bound for destruction

...fic domain by which Nedd4 interacts with Notch and pinpointed the site of origin for this interaction at the cell membrane, a finding congruent with the idea of Nedd4 as an agent of endocytosis. Nedd4's role as a suppressor of Notch was illustrated even more plainly when the lab showed that inhibition of Nedd4 ...

Tailing the cause of a rare heart disease

...d the translucent tail of a fish, researchers have pinpointed the underlying cause of a rare, mysterious heart disease that is preceded by hearing loss. Discovering the genetic cause of this disease provides researchers with a wealth of new ideas about the molecules involved in building the developing heart, as...

The circadian clock: Understanding nature's timepiece

...eping cells, has mystified scientists since it was pinpointed in the brain about 30 years ago. Now, a researcher at the University of Calgary is getting a little bit closer to understanding how it ticks. Dr. Michael Antle, a neuroscientist in the U of C's Department of Psychology, has conclusively shown that ...

Gene variant increases risk of age-related macular degeneration

...nter and Vanderbilt University Medical Center have pinpointed the first major gene that determines an individual's risk for developing age-related macular degeneration (AMD). The chronic, progressive disease -- which affects as many as 15 million people in the United States -- is the leading cause of visual imp...

From gene discovery to preventing eye disease in retinitis pigmentosa

...lindness. Over the last 15 years, researchers have pinpointed defects in dozens of genes causing different forms of RP. Surprisingly, patients with the same genetic defect can show different severities of vision loss and rates of disease progression. This effect is most dramatic across the retina of some indivi...

Talking robots, green buildings, and shockwave healing

...e Linguistic University ( tatashevchenko@mail.ru ) pinpointed a distinctive feature in the speech of TV newscasters: very brief pauses, on average about 14 times shorter than the average length of an uninterrupted spoken phrase (4aSC19). In efforts to differentiate between the various regional dialects in the ...

Faulty body clock leads to obesity and diabetes

...ty and Evanston Northwestern Healthcare (ENH) have pinpointed something deep within the brain and other tissues that plays an important role in the struggle to maintain a healthy weight: the body's 24-hour internal clock. The research team, led by an endocrinologist and a circadian rhythms expert, has shown tha...

Important brain finding results from boy's rare, fatal disease

...een slow. The gene responsible for the disease was pinpointed by a group led by Marjo van der Knapp in 2001, but it is unclear how the defect causes the disease. Teams like Proschel's are working to understand at the cellular level exactly how a defect in the gene may lead to the massive disruption of myelin, w...

Study shows how retinoic acid enters a cell's nucleus

...Noy currently is working with an ILBP that she has pinpointed as a pro-carcinogen -- it promotes cancer. Armed with new tools and knowledge, she hopes to figure out how to suppress the ability of this protein to move to the nucleus and promote cancer, perhaps by blocking the hormone that switches on its NLS. I...

How monarch butterflies are wired for navigation

...t their orientation response. The researchers also pinpointed the location of the circadian clock in the butterfly brain. Such circadian clocks govern the approximately 24 hour activity and metabolic cycles of animals from the simplest insects to humans. Reppert and his colleagues found that key genes responsib...

Experts to explore genetics, therapies for connective tissue diseases at Jefferson

...ch diseases, he says, noting that researchers have pinpointed at least 10 genes harboring mutations involved in EB. Such information has also helped explain how normal tissue functions. "The rare mutations we've found have provided insights into how skin works," he notes. In addition, many researchers have begu...

Geneticists identify 'master switch' that causes female flies to behave like males

...olecular level.'' In the Nature study, researchers pinpointed two instances in which the fruitless gene allowed male flies to detect smells that influenced their sexual behavior. Normally, while an inexperienced male often courts other males, he soon learns to refine his mating strategy. Such habituation was kn...

Protein amplification in melanoma is possible drug target

Researchers have pinpointed specific gene and protein over-production in metastatic melanoma, pointing the way to a possible new drug target, according to a study published in Nature July 7. Gene amplification is a process that often happens in cancer cells when the normal DNA ...

Gene's mutations found to cause life-threatening aortic disease

...of chromosome 3. In the present paper, researchers pinpointed the culprit gene as TGFBR2 by analyzing 80 families with a history of aneurysm and dissection. Four unrelated families had variations in the TGFBR2 gene that altered the structure of the protein and were connected to aneurysms, dissections and fatal...

Genetic links could unlock clues to leading cause of blindness

...ision loss could still be stopped. The researchers pinpointed a chromosome region and genetic markers for macular degeneration in humans and rhesus monkeys, findings recently published in the online edition of the journal Experimental Eye Research. Linking the disease in monkeys to the disease in humans allows ...

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