mutations 2 4

Tag: "mutations" at biology news

Researchers make headway in mystery of migraines

...ional Academy of Sciences (PNAS), reveals how gene mutations known to cause a form of inherited migraine--the k...nvolved in brain cell communication. "A number of mutations have been shown to result in familial migraines," says Dr. Rhoda Blostein--a medical scientist at th...

UI researcher studies deafness in fruit flies, humans

...ientists one step closer to understanding how such mutations result in inner-ear abnormalities and deafness in humans. "Myosin VIIA was one of the first human hereditary deafness genes to be identified. But it is not clear exactly how this molecule works in the human ear," he says. Previous evidence suggeste...

Any exposure to tobacco smoke during pregnancy is risky

... and the mechanisms of DNA repair. "These kinds of mutations are likely to have lifelong repercussions for the exposed fetus, affecting survival, birth weight and susceptibility to disease, including cancer." This is a startlingly different conclusion than that reached by three previous studies looking at the...

Enlisting genomics to understand flu evolution

...ulating minor strains--which might be accumulating mutations with little obvious epidemiological consequences--can suddenly cause an epidemic with just one or two more mutations. These results suggest that "the potential diversity is greater than we thought," says Lipman. "We need to have more comprehensive i...

Achilles heel of the herpes virus possibly found

...ave an altered human B5 protein that is changed by mutations that affect a functional region important to forming a coiled coil. "If B5 is a SNARE-like cell fusion receptor", Fuller says, "it may turn out to be useful for more than HSV drug treatment. It could act as a way to link vesicles containing drugs wi...

Researcher gets NSF grant to create mutant maize lines

... a grant to help assemble a unique database of DNA mutations in maize (corn). The project not only will allow researchers to study the effects of knocking out the function of single genes, one at a time, but also will create seeds for each mutation, or disrupted gene. The seeds will be made widely available t...

Newly discovered genetic disease sheds light on body's water balance

...ry, working with colleagues to isolate the genetic mutations responsible for their disruption in water balance....tivated as if it was binding to the hormone. Both mutations activate the receptor by changing a single amino acid, arginine, located on the gene at position 137...

Attacks of King George III's madness linked to key metabolism molecule

...rphyria exist, all of them stemming from inherited mutations that disrupt the body's manufacture of heme. A reddish pigment that contains iron, heme is a building block of the oxygen-carrying hemoglobin in red blood cells. The complex synthesis requires eight different enzymes, and when any of them is deficien...

Scientists track stealth DNA elements in primate evolution

... mobilizing in the human genome, causing insertion mutations that have led to the development of a number of he... of hyperactive "master" sequences. In this model, mutations occurring in the "master" copies have rendered themselves capable of substantial propagation and per...

Pinpointing the cause of a neurodegenerative disorder

...she said. "So, this raises the question of whether mutations in the genes for these proteins enhance their normal action. "Importantly, such insights can now guide studies that focus on the normal function and interactions of these proteins and how they might be enhanced by disease-causing mutations," said Zo...

Spiders help scientists discover how muscles relax

...es enlarged, causing sudden death. It is caused by mutations in certain genes that encode several muscle proteins--some of which are related specifically to the myosin that Padron studies. ...

Researchers track down cause of a disfiguring bone disorder

...xpression," the team reported, "demonstrating that mutations in distant regulatory elements are able to cause congenital abnormalities analogous to coding (gene) mutations." "Human genetic diseases of the skeleton such as sclerosteosis and Van Buchem disease provide a starting point for understanding the modu...

Most common lung cancers may begin in newly discovered cells

...alized alveolar cells. "The stem cells may retain mutations from the same damage that kills the more specializ...enetic activity profile of mouse tumors with K-ras mutations to the profile of human lung cancer samples make the researchers optimistic about the relevance of t...

Scientists focus on 'dwarf eye'

... beyond this point, causing nearsightedness. Other mutations cause the eye to stop growing too soon, causing fa...archers examined the woman's DNA for possible gene mutations causing nanophthalmos. According to Sundin, MFRP was a surprise candidate. "Mutant MFRP was rece...

Insulin pulses keep the liver lean

... fat metabolism in liver," Najjar said. "Although mutations in CEACAM1 have not been found in patients with diabetes or insulin resistance, it is tempting to speculate that CEACAM1-dependent inhibition of fatty acid synthesis might be compromised as a consequence or even a cause of the insulin-resistant state...

Micro-molecule plays big role in birth defects

...h but who did not participate in it. "It indicates mutations in microRNAs might be responsible for birth defects, and this has not been discovered before. Using this same approach, we can look at other embryonic organs and ask what microRNAs do as a group." Other research indicates microRNAs may play a role i...

'Jumping genes' contribute to the uniqueness of individual brains

...st all of them are marooned at a permanent spot by mutations rendering them dysfunctional, but in humans a hundred or so are free to move via a "copy and paste" mechanism. Long dismissed as useless gibberish or "junk" DNA, the transposable L1 elements were thought to be intracellular parasites or leftovers fro...

Fruit fly studies open new window on cancer research

...simple animal with a life cycle of only two weeks, mutations are easy to generate and study. This basic research at Oxford has now attracted funding from Cancer Research UK to further investigate the processes involved and allow Dr Goberdhan to establish her own group. Professor Julia Goodfellow, BBSRC Chief ...

Carnegie Mellon University research reveals how cells process large genes

...ing must now be taken into account when evaluating mutations that disrupt gene expression and produce a dysfunc...dicate that at least 15 percent of disease-causing mutations occur at standard signals where intron removal takes place through direct splicing. Mutations at rec...

Reversal of role for a viral protein associated with the development of lymphoma

...ing must now be taken into account when evaluating mutations that disrupt gene expression and produce a dysfunc...dicate that at least 15 percent of disease-causing mutations occur at standard signals where intron removal takes place through direct splicing. Mutations at rec...

1 2 3 4 5 6 7 8 9 10