Tag: "mutation" at biology news
UCLA scientists design masks to hide genetic mutations from cell
...el way to correct abnormal gene splicing a common mutation
that often leads to disease. Splicing edits out the punctuation from a cells genetic blueprint, enabling its code to dictate protein production by the cell. Using new technology made by Gene Tools of Oregon, the researchers designed a custom mask t...
CSHL scientists confirm genetic distinction between heritable and sporadic cases of autism
...e, and even the inherited form might derive from a mutation
that occurred in a parent or grandparent," explained Wigler. Using a high-resolution method for analyzing DNA called microarray technology, the researchers found that spontaneous copy number mutations occur primarily in sporadic cases. The study repo...
Tiny, spontaneous gene mutations may boost autism risk
...genetic mechanisms contribute to risk: spontaneous mutation
and inheritance, with the latter being more freque...s with autism outnumber girls 4 to 1. Since each mutation
is individually rare few were seen more than once the results suggest that many different sites in...
Lung cancer-derived EGFR mutants exhibit intrinsic differences in inhibitor sensitivity
... explains the observation that tumors bearing this mutation
have been found to be more responsive to treatment with gefitinib. The researchers conclude that mutations of the EGFR dramatically influence inhibitor binding and suggest that the different EGFR mutations present distinct targets for application a...
Study reveals how some molecules inhibit growth of lung cancer cells
...ncer. "It turns out that in some cases, the very mutation
that causes the cancer in the first place is also ...e research team concluded that the particular EGFR mutation
within tumor cells determines which inhibitor molecules are likely to be able to slow or stop the gr...
Stem cells act through multiple mechanisms to benefit mice with neurodegenerative disease
...e with a geneticcomponent. The mouse used here has mutation
in a gene that makes thehousekeeping enzyme hexosa...erapeutic impact. Sandhoff results from a genetic mutation
that reduces the body's supplyof an enzyme, called hexosaminidase ("hex"), used by brain cells tomet...
Drivers and passengers on the road to cancer
... important coded messages within them. The type of mutation
found varies markedly between individual cancers, reflecting the processes that generated the mutations, some of which were active decades before the cancer showed itself. Patterns of mutations are an archaeological record written into the DNA of ...
Penn researchers discover new molecular path to fight autoimmune diseases
...In humans, one cause of this malfunction is when a mutation
in the FOXP3 gene disables the immune cells ability to function. In a new study published online this week in the Proceedings of the National Academy of Sciences, researchers at the University of Pennsylvania School of Medicine have discovered how to...
New genetic mutations found that may cause cleft lip/palate
...University School of Medicine, indicated that each mutation
would disrupt FGF signaling in a different way. The team will next test the mutant proteins to see if they affect protein function, Riley said. The researchers estimate that abnormal FGF signaling may account for up to 5 percent of non-syndromic cl...
2-step process filters evolution of genes of human and chimpanzee
... of Sciences. Before such a new and beneficial mutation
can take its place in the human genome it has to p...uck determines their fates. In step two, a new mutation
that has been fortunate enough to survive the initial elimination process, and confers some benefit,...
Triptolide: A potential drug for polycystic kidney disease
...g a signal to stop cell growth. PKD is caused by a mutation
in the PKD1 or PKD2 gene causing the cells to miss the stop growing signal, allowing them to keep growing, and thus generating a cyst. In collaboration with Stefan Somlo , M.D., Chief of Nephrology at Yale School of Medicine, who discovered the ...
Rare mutation causes early heart disease and metabolic syndrome
...plicated in heart disease. Even though the genetic mutation
is very rare, these findings point to new approach...chromosome 12. In this region, they found a single mutation
in a gene called LRP6, which acts in the Wnt signaling pathway and which was previously known to be ...
JCI table of contents -- March 1, 2007
...e family individuals with a CoQ10 deficiency had a mutation
in the gene PDSS1 and that in a second family individuals with a CoQ10 deficiency had a mutation
in the gene COQ2. The genetic mutations led to the generation of non-functional forms of the protein...
Single genetic defect causes early heart disease
...he United States and Iran has identified a genetic mutation
that causes early onset coronary artery disease in members of a large Iranian family. The genetic mutation
leads to heart disease by causing high blood pressure, high blood levels of "bad cholesterol" and di...
News tips from the Journal of Neuroscience
... defects in auditory nerve cells. In contrast, the mutation
identified in this screen introduced a stop codon in pejvakin . This mutation
resulted in progressive hearing loss caused by outer hair cell malfunction, suggesting distinct func...
Proteasome activator enhances survival of Huntington's disease neuronal model cells
...In Huntington's disease (HD) the disease provoking mutation
in the huntingtin gene eventually causes the cell to build up intranuclear and cellular inclusions of protein-aggregates, made up primarily of huntingtin. One cellular organelle with a central role of clearing such protein build up in the cell is the...
UT-Houston scientists develop new procedure to differentiate human embryonic stem cells
...s than 37 weeks of age, may be caused by a genetic mutation
triggering a surfactant shortage. Likewise, alpha-1 related emphysema, a condition affecting 100,000 Americans, results from an inherited deficiency of alpha-1 antitrypsin. Further, cystic fibrosis is the second most common childhood onset inherited ...
Fruit flies may pave way to new treatments for age-related heart disease
...oxygen supply. Hearts in young flies with the KCNQ mutation
exhibited prolonged heart contractions and irregular beats seen usually in older flies (and older people). To enable their study of the fly heart, the researchers created new methods to dissect the hearts, and quantify heart contractility and other f...
A first glimpse of the influenza replication machine
...ed during a worldwide influenza pandemic caused by mutation
of a bird-specific strain of the influenza virus. Recently H5N1, another highly infectious avian strain has caused outbreaks of bird flu around the world. There is great concern that this virus might also mutate to allow human-to-human transmission a...
MicroRNA helps prevent tumors
...ed by microRNAs, can help give rise to tumors if a mutation
in the gene disrupts the microRNA's ability to regulate it. In addition, the results show that the interaction of one microRNA with one of its target genes can produce a certain trait in mammals. This is important because scientists are only beginnin...
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