Tag: "mutation" at biology news

Identifying cancer genes Will it really lead to better treatment?

...Cambridge, UK, described how his study of the BRAF mutation could provide new targets for drug development, wh...cers, and hence identify abnormalities. The BRAF mutation is implicated in a number of common cancers, according to Dr. Stratton. It appears to be involved ...

Zebrafish studies provide insight into blood-cell formation

...esearchers observed that a zebrafish embryo with a mutation called kugelig (kgg) developed a lethal anemia i...for blood-forming stem cells, we realized that its mutation seemed to affect the genetic program for creating blood cells," said Zon. "The program for making bl...

Genes discovered that regulate blood stem cell development

...ten days after fertilization. They discovered the mutation in the cdx4 gene, which is associated with the early blood deficiency as well as abnormal developmental patterning, including aberrant hox gene expression. When researchers injected the mutants with hox genes, such as hoxb7a and hoxa9a, it resulted ...

University of Chicago scientist wins prestigious Balzan Prize

.... He has also been influential in showing that the mutation rate in males is higher than that in females. He has demonstrated this for higher primates including humans as well as for rodents. With the appearance of data from the Human Genome Project, Li and his colleagues have turned their attention to analys...

Experimental cancer drugs may halt events that lead to cardiac hypertrophy and heart failure

...ical hypertrophy, however, may result from genetic mutation or, most commonly, from the consequences of an unh...e naturally programmed to be anti-hypertophic, but mutation or the cumulative effects of cellular stress seems to restart a program of events that we've only se...

Some forms of cancer behave in an unexpected way

...st cancer. Women with breast cancer who also had a mutation in particular gene, BRCA1, had unusual tumors. These tumors did not behave as expected - there was no clear correlation between tumor size and associated cancer in the axillary lymph nodes. This was not true for breast cancers in the general populati...

Enzyme discovery sheds light on causes of rare disease, cancer

...ry 300,000 children. If both parents have the same mutation in the same FA gene, each of their children has a one-in-four chance of inheriting the defective gene from both parents and developing FA or certain types of cancer. The disease leads to bone marrow failure (aplastic anemia) and is associated with bi...

Geneticists show ripple effects of gene mutations

...on are over. "In the past, scientists would make a mutation or a change in the genetic information in a gene, observe the effect on behavior and say that the particular gene is essential for a particular behavior," he said. "But when you perturb a gene, you do not just perturb a gene. You create, instead, a...

Ingenium publishes biological characterization of first mouse model for kidney stones

...t of the animal. Ingenium researchers located the mutation responsible for the disease state in the Slc3a1 gene. Mutations in the human Slc3a1 gene have long been associated with cystinuria, demonstrating a direct link and further validation of the mouse as a model for cystinuria type I disease research. ...

JCI Table of Contents

...ne in New York has revealed that a single missense mutation in cTnT causes a striking disruption to energy met...eased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T AUTHOR CONTACT: Jil C. Tardiff Albert Einstein College of Medicine, Bronx, ...

Northwestern's Cancer Genetics Program pinpoints gene that increases cancer risk by 26 percent

...risk women more precisely because of the TGFBR1*6A mutation and prevent many cases of breast and ovarian cancer."...

Progeria: Facing old age is hard facing it during childhood is unthinkable

...model with Progeria, scientists noticed a specific mutation in the Lamin A gene, which seems to account for Progeria symptoms. This new research brings scientists closer to some day finding a cure for this disease and offers hope to those living with it. Sadly, Fleur lost her battle with Progeria at nearly t...

Tipping the balance of prion infectivity

... can fall into one of a number of wells," said. "A mutation in the prion produces a preferred misfolding --like tipping the Pachinko ball one way or another so that it affects which well the ball tends to fall into." To explore their hypothesis, the researchers created subtle mutations in the chimeric prion....

Disease-causing genetic mutations in sperm increase with men's age

... surgically corrected. The researchers found that mutation rates in sperm increased as men aged, but not enou...more frequently in the sperm of older men, but the mutation rate isn't quite as high as the incidence of Apert syndrome," says Ethylin Jabs, M.D., director of t...

JCI Table of Contents, 15 August 2003

...adverse effects only in subjects with a particular mutation in the beta2AR. The impact of this mutation has not been fully examined in any cell type. Liggett and his research team suggest that therapeuti...

Researchers identify second gene responsible for rare syndrome associated with skeletal defects

... mandibuloacral dysplasia (MAD) but did not have a mutation in the LMNA gene, previously reported as a cause o...and also is available online. "It was known that a mutation in LMNA caused MAD, but in several of the individuals that we studied LMNA was normal," said Dr. Abh...

Modifier gene controls severity of neurological disease in mice

...ype used in biomedical research which contained a mutation in an important sodium channel gene called Scn8a. ...ific mutation. "We used B6 mice with a splice site mutation in Scn8a that affects the amount of protein produced by the gene," says Buchner, who is first author...

Stem-cell defect underlies common genetic disorder

...se. We've found the mechanism by which one type of mutation impairs the function of the neural crest stem cells that give rise to the enteric nervous system." The researchers began by conducting a global comparison of genes expressed in whole mouse fetuses with those genes expressed only in the fetal gut NCSC...

Researchers identify new cause of genomic instability

...d be highly significant, said Alt. Such a class of mutation would not have been readily detected in most searches for genes that suppress tumors in humans. Indeed, Bassing discovered that tumors in these mice still had a functioning H2AX gene. "A major question is why haploinsufficiency of the H2AX protein ...

Gene mutation found for eye disease that mimics macular degeneration

...sual macular disease. They report on the Tyr141Cys mutation in a gene called RDS. According to Ayyagari, the m... age 60 or older. Ayyagari's group discovered the mutation by studying members of five generations of a large family, known to researchers as SUNY901. The fami...

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