Women often opt to surgically remove their breasts, ovaries to reduce cancer risk
... carriers. BRCA1 and BRCA2 are hereditary gene mutations
that indicate an increased risk for developing ... 25 percent lifetime risk of breast cancer without mutations
also had a documented increase in risk-reduction ... widely used by carriers of BRCA1 and BRCA2 gene mutations
to reduce the risk for breast and ovarian cancer. ...
Stem cell 'daughters' lead to breast cancer
... for breast cancers that develop in women carrying mutations
in the gene BRCA1.
BRCA1 gene mutations
are found in 10-20 per cent of women with hereditary breast cancer. Women with BRCA1 mutations
often develop 'basal-like' breast cancer, which ...
$2 million grant aids study of lung cancer in people who never smoked
... more likely than smokers to harbor one of three mutations
in the epidermal growth factor receptor (EGFR) gene. In addition, they found that such mutations
are more common in women and among people of ... specimens to conduct studies in proteomics, gene mutations
and copy numbers, microRNAs (ribonucleic acid), ...
Ben-Gurion U. researchers reveal connection between cancer and human evolution
... of the Negev (BGU) have discovered that gene mutations
that once helped humans survive may increase the ... in the Negev (NIBN) set out to look for mutations
in the genome of the mitochondria, a part of ... changes, such as climate shift, with mutations
that increased their chances of survival. But ...
Structural biology scores with protein snapshot
... mutagenesis studies in which they characterized mutations
at each amino acid in DAGK and used the data to ... onto the structure. They identified two sets of mutations
that resulted in non-functional DAGK. One set ... team was surprised to find that nearly all of the mutations
that caused misfolding were in the active site. ...
Scripps Research scientists observe human neurodegenerative disorder in fruit flies
... that some people with Charcot-Marie-Tooth have mutations
in their genes that make a critical human protein ... need them to grow, divide, and survive."
in tyrosyl-tRNA synthetase were linked to ... debated whether problems arose because the mutations
interfered with tRNA synthetase's normal ...
Researchers observe single protein dimers wavering between two symmetrically opposed structures
... of energy for the syn and anti structures, with mutations
or conditions being able to alter this balance. They predicted that certain mutations
in the protein sequence would allow a single ... of clinical implications," Deniz says. "Small mutations
in proteins could throw off the delicate balance ...
Recruitment of reproductive features into other cell types may underlie extended lifespan in animals
... Molecular Biology have found that certain genetic mutations
known to extend the lifespan of the C. elegans ... and other researchers discovered that simple mutations
in genetic pathways conserved throughout ... the lifespan of C. elegans , and that similar mutations
in the corresponding pathways also dramatically ...
Protein linked to mental retardation controls synapse maturation, plasticity, CSHL team finds
... progress in elucidating the pathophysiology of mutations
in the OPHN1 gene.
The protein normally ... structure for the contents of cells. "All mutations
that we know of in the OPHN1 gene lead to OPHN1 ... "Our work suggests a cellular mechanism by which mutations
in OPHN1 can contribute to cognitive deficits ...
Genetic testing for breast or ovarian cancer risk may be greatly underutilized
... Although a test for gene mutations
known to significantly increase the risk of ... clinical practice.
"Testing for BRCA1 and 2 mutations
has been around a long time and should be a good ... cancer is less than 2 percent. But women with mutations
in the BRCA1 or BRCA2 genes may be 3 to 7 times ...
Stowers researchers develop whole genome sequencing approach for mutation discovery
... a "whole-genome sequencing approach" to mapping mutations
in fruit flies. The novel methodology promises to reduce the time and effort required to identify mutations
of biological interest. The work was published in ... is labor intensive and time consuming, and many mutations
that cause medically relevant phenotypes are not ...
Tiny differences in our genes help shed light on the big picture of human history
... extinction and helps scientists close in on gene mutations
that make some demographic groups more likely to ... of population events help inform the search for mutations
that might have been helpful and necessary for ... segments of DNA containing very small genetic mutations
that only involve a single letter of the genetic ...
Avian flu research sheds light on swine flu outbreak
... pigs, an avian flu virus requires relatively few mutations
to spread rapidly between mammals by respiratory ... surface, and two internally. Two of the surface mutations
were determined to be solely responsible for ... respiratory droplet transmission. Because so few mutations
were necessary to make the hybrid H9N2 ...
Cystic fibrosis testing -- next steps
... is an autosomal recessive disease caused by mutations
in the CFTR gene; cystic fibrosis patients must ...
Genetic screening for cystic fibrosis carrier mutations
(one copy of a mutated gene) is universally ... call for screening a panel of 23 common mutations
in CFTR ; however, many laboratories screen for ...
Scaling the wall of deafness
... previously discovered 4 deafness genes and novel mutations
in 15 deafness genes, among 46 known ones.
... says. In separate studies in the UK and Spain, mutations
in a single microRNA were just reported to cause ... Prof. Avraham. "Until now science only knew that mutations
in protein-coding genes caused deafness. We went ...
New insights into progressive hearing loss
In the human studies, two families showed mutations
in miR-96 - but they each carried the mutation at ...
The team also looked to see whether the mutations
altered the production or stability of miR-96 and ... function of miR-96 were impaired by these human mutations
in the lab studies.
Researchers are using ...
Penn biologists discover how 'silent' mutations influence protein production
... levels are governed by synonymous, or silent, mutations
within the protein-coding region.
do not change the amino-acid sequence of a ... mechanism underlying this regulation: synonymous mutations
determine mRNA folding and thereby the eventual ...
Gene discovery could lead to male contraceptive
... infertility in mice, the researchers found that mutations
in both Iranian families occurred in a single ... CATSPER1. DNA analysis revealed two different mutations
-- one in each family -- but both mutations
would likely lead to either a very truncated, ...
CSHL team develops mouse models of leukemia that predict response to chemotherapy
... heterogeneity, meaning that the hundred or so mutations
associated with this form of cancer occur in ... outcomes in different ways.
Some gene mutations
in cancer have been correlated with clinical ... by first identifying the most commonly occurring mutations
in a group of 111 children with AML and then ...
Stem cell breakthrough: Monitoring the on switch that turns stem cells into muscle
... R. Capecchihave created a "switch" that allows mutations
or light signals to be turned on in muscle stem ... called "Cre," which, when activated, can trigger mutations
in muscle stem cells. This Cre trigger is ... scientists were able to activate tumor-causing mutations
in muscle stem cells, providing valuable insights ...
Skin cancer study uncovers new tumor suppressor gene
... normal DNA from the same patients, looking for mutations
in all 23 members of the MMP gene family.
The researchers identified 28 different mutations
in eight MMP genes in the melanoma tumors studied. These mutations
were found to be distributed in different ...
Getting down to cancer basics
... tumor types. This is the first example of mutations
in a gene of this functional class. The finding arose from a study of mutations
in 4000 genes in kidney cancer.
"UTX is an ... massive DNA sequencing study, the team found rare mutations
of the UTX gene in clear cell renal cancer - a ...
Therapeutic cloning gets a boost with new research findings
... five to ten-fold lower rate of spontaneous point mutations
than adult somatic cells, which give rise to the ... if cloning by SCNT leads to progeny with more mutations
than their naturally conceived counterparts. ... DNA programming predisposing them to develop mutations
faster than natural fetuses of the same age?
Research yields potential target for cancer, wound healing and fibrosis
... a panel of stable cell lines containing different mutations
in cells of the beta-1 integrin tail. In the ... is of therapeutic interest.
These beta-1 tail mutations
are thought to disrupt the ability of the ... not. They demonstrated that specific beta-1 tail mutations
can affect cell signaling, cell spreading or ...
Cats' eye diseases genetically linked to diseases in humans
... both cats and humans.
"The same genetic mutations
that cause retinal blindness in humans also cause ... of Veterinary Medicine. "Now, cats with these mutations
can be used as important animal models to ...
Researchers examined the genetic mutations
in two groups of cats; one with a congenital form ...
Researchers identify 4 genetic hotspots associated with psoriasis
... CITY A genomewide scan of millions of genetic mutations
has revealed four new DNA "hotspots" that affect ... encode proteins that bind to IL-23A and that mutations
in any of those genes may predispose people to ... could be close to 300.
Once all the gene mutations
connected to psoriasis have been indentified, ...
Evolutionary process more detailed than previously believed, study shows
... the possibility of this competition, beneficial mutations
that have been lost during the evolution of an ... explained. "Indeed, we found that several of the mutations
were nearly lost in the population by the end of ... drugs," Kao said. "As it fights for its survival, mutations
occur that help make this fungus resistant to the ...
Scientists uncover evolutionary keys to common birth disorders
... by Dr. Jezewski, and other groups, identified mutations
within the human MSX1 gene in two different birth ... that include tooth and nail malformations. The mutations
associated with the more severe clefting disorder ... Msx likely to underlie disease, and indicated why mutations
in the same gene can lead to either orofacial ...
Mayo Clinic: Brain disorder suggests common mechanism may underlie many neurodegenerative diseases
... report that people with Perry syndrome have mutations
in a subunit of the dynactin complex (DCTN1; ... brain cells, or neurons. In this case, the mutations
meant that the cargo was being driven on a ... by faulty signaling, due to pathogenic mutations
in the leucine-rich repeat kinase 2(LRRK2) gene, ...
Avian flu becoming more resistant to antiviral drugs, says University of Colorado study
... to adamantanes arose through novel genetic mutations
rather than an exchange of RNA segments within ... technology that portrays the individual gene mutations
and spread of the avian flu around the globe, ... amino acid sequence changes in genes lead to mutations
that affect drug resistance in the H5N1 virus and ...
Study: Excessive use of antiviral drugs could aid deadly flu
... that about one-third of those samples carried mutations
enabling the virus strains to resist the effects ... effects of adamantanes. To evade adamantanes, mutations
can occur at several positions on the protein, ... because the avian flu virus strains experienced mutations
that changed the M2 protein to evade the drug ...
Safe new therapy for genetic heart disease
... previous signs of illness. HCM can be caused by mutations
in a number of different genes, and different gene mutations
may result in more or less severe symptoms. ... was found to be dependent on the underlying gene mutations
in each patient. They did not observe any ...
UT Southwestern researchers identify gene linked to inherited form of fatal lung disease
... causing the disease. This led to the discovery of mutations
in genes called TERT and TERC. These two genes ... the cells to remain effectively immortal. mutations
in either of these two genes can be found in ... individuals with the disease they were led to mutations
in a gene called SFTPA2. The protein produced by ...
Brain background to body mass
... maintain the status quo.
"Very occasionally, mutations
in genes active in the hypothalamus have dramatic ... Unit, "such that people carrying these mutations
are severely obese. Such mutations
might be considered exceptional.
"However, we ...
Irritable bowel syndrome can have genetic causes
... with diarrhea show a higher frequency of certain mutations
", ex-plains Dr. Beate Niesler, who investigates ... the Heidelberg Institute of Human Genetics. These mutations
appear to cause changes in the composition or ... of specific medications for certain genetic mutations
Correlation with depression and ...
Kidney function discovery sheds light on genetic complexity of disease
"The study demonstrates that in some cases mutations
occur only in one gene, while in other cases mutations
in two or even three different genes are observed, and that the disorders can arise due to mutations
in a group of genes carrying out related ...
M.I.N.D. Institute researchers call for fragile X testing throughout the lifespan
... Institute researchers urge physicians to test for mutations
of the fragile X gene in patients of all ages. ... after decades of research, it is clear that mutations
in this gene cause a range of diseases, including ... of these patients are also at risk because the mutations
are passed on from generation to generation.
Washington University scientists first to sequence genome of cancer patient
The researchers discovered just 10 genetic mutations
in the patient's tumor DNA that appeared to be relevant to her disease; eight of the mutations
were rare and occurred in genes that had never ... be acquired. The scientists suspect that all the mutations
were important to the patient's cancer.
Researchers identify promising gene target for neuroblastoma therapy
... have identified a set of previously unknown mutations
in a single gene in 8 percent of neuroblastomas, ... neuroblastoma cell lines carrying two of the mutations
to die when treated in the laboratory. This suggests that when mutations
activate the gene, known as ALK, tumors become ...
Design of a compound that stabilizes the main natural suppressor of tumors
... protein p53 stable even when it presents certain mutations
that promote the appearance of cancer. Giralt, ...
More than 50% of cancer patients have mutations
in the p53 gene. Although most of these are located in the DNA binding domain, several mutations
are found in the tetramerization domain, thereby ...