Tag: "hereditary" at biology news
Second Breast Cancer Gene Located
...trying to answer the manyremaining questions about hereditary
breast cancers. "Is there a BRCA3?" Futreal asked. "There is a group offamilies that cannot be attributed to either BRCA1 or BRCA2. Now we needto discover whether there is one gene, or a cluster of unrelated mutations,behind those cancers....
Duke Researchers Find Second Gene Linked To Blood Vessel Disorder
...ctivin receptorlike kinase 1 (ALK1) to the disease hereditary
hemorrhagic telangiectasia(HHT), a bleeding disorder that strikes 1 in 40,000 people. Geneticist DougMarchuk, postdoctoral researcher David Johnson, the study's lead author,and colleagues from Duke and from six other research institutions reportedthe...
International Research Team Clones New Skin Cancer Gene
...e search for the gene began with studies of a rare hereditary
disorder, nevoid basal cell carcinoma syndrome (NBCCS). People with this syndrome often develop thousands of skin cancers and may also have birth defects and childhood brain tumors. In 1992, Bale mapped the NBCCS gene to human chromosome 9, and o...
A Genetic Skeleton Key
...h asbacteria, genes are written into theorganism's hereditary
material ascontinuous strings of information,recording genetic information in thefour-letter base-pair AGCT alpha-betof DNA. In man and other multi-celledorganisms, the situation is much lessstraightforward, even though exactlythe same alphabet ofbas...
Researchers Find Genetic Clues To Intestinal Disease
...s type of earlier onset of a more severe form of a hereditary
disease in the child than in the parentis called genetic anticipation. The study is the first to show genetic anticipation in a disorder caused by multiple genes, according to Bayless. The Hopkins team speculated that the disease, which is probably c...
Jefferson Scientists Find Potential Deadly Effects Of Two Missing Cancer-Suppressor Genes
...r about half of all cases of genetically linked hereditary
non-polyposis colorectal cancer (HNPCC)--one of the most common human cancer predisposition syndromes (Fishel, R. et al., Cell, 74:1027, 1993). Knockout mice lack a working gene or genes and are used as models to study the effects o...
MGH-Led Team Finds Gene For Crippling Neurologic Disorder
...efore the age of 11, is the most common and severe hereditary
form of the disorder, affecting about 50,000 people in North America. Symptoms usually begin in the legs or arms and spread to the rest of the body, causing it to twist into unnatural postures; symptoms worsen when patients are fatigued or stressed...
Doublecortin : A Novel Gene Involved In Cortical Development
... transmission. The INSERM team first examined the hereditary
transmission of genetic markerslocated on the sex chromosome X in members of three families in which girls hadSCLH and boys had lissencephaly. This genetic mapping approach by linkageanalysis allowed them to confirm that the defective gene responsibl...
Researchers Closing In On Gene For Paralytic Disorder
...ective gene responsible for thisillness, a form of hereditary
amyotrophic lateral sclerosis (ALS), to a sectionof chromosome 9. "These results bring us a major step closer to isolating the geneitself," says David Cornblath, M.D., professor of neurology. "When we do thatand clone it, we can find what i...
UCSF Researchers Identify Mutations In Gene Causing Hereditary Form Of Childhood Rickets
...ing. "Identifying the genetic mutations that cause hereditary
vitamin D-dependentrickets is likely to increase t...ary, begin treatment early in life." Children with hereditary
vitamin D-dependent rickets cannot metabolize vitamin D to its active hormonal form and, as a result...
Multi-Center Study Provides Guidelines For Genetic Testing In Women With Breast Cancer: BRCA Abnormalities Multiply Risk Of Ovarian Cancer
...alities in either of twogenes responsible for most hereditary
breast and ovarian cancer, BRCA1 andBRCA2, that le...the issueof who should be advised to be tested for hereditary
breast and ovarian cancer,"said Olopade. "The data in this study enabled us to create a simple table...
Blindness Linked To The Cytoskeleton?
...d the gene defect underlying a specific form of hereditary
blindness, known as retinitis pigmentosa (natur...l relevance, then RP2 is the first example of hereditary
blindness where a malfunction of the cytoskeleton forms the basis of premature cell death in the ...
Additional Genetic Influence For Alzheimer's Disease Confirmed
...ally present in every cell of the human bodycarry hereditary
factors encoded in what's estimated to be between 75,000 to100,000 unique genes. "Defining the gene associated with a family'ssusceptibility to Alzheimer's will eventually provide researchers with new andotherwise unattainable insight into how the di...
Penn Researchers Find Mutation In Prostate Cancer Gene
...e CYP3A4 gene is not believed to beassociated with hereditary
prostate cancer, as is the case withthe HPC1 gene, which rarely mutates and has a hereditary
link.In contrast, CYP3A4 appears to be associated with the commonlyoccurring variety of prostate can...
New Genetic Mutation Linked To Breast Cancer Risk Poses Less Risk Than Previously Discovered Gene Mutations
...ion has been found to modestlyincrease the risk of hereditary
breast cancer in women of Ashkenazi Jewishdescent ...sk observed in womenwho are already susceptible to hereditary
breast cancer. "While we found the overall risk in inherited breast cancer linked to the APCmutatio...
Scientists Closer To Locating Gene That May Explain Cholesterol Absorption
...l cholesterol absorption in individualswith a rare hereditary
disease. While cholesterol metabolism has been well-documented, scientistsunderstand little about how cholesterol is absorbed from our diet and excretedby the body. "Only a fraction of the cholesterol we consume is actually absorbed b...
University of Georgia Genetics Professor John Avise Publishes The Genetic Gods, A New Book On Evolution And Belief
...l, the concept of geneticindividuality, and of the hereditary
influences that make you, you and me, me." Avise does not shy away from difficult questions in the book. Indeed, heengages them in a quiet, insistent way. He makes clear that the book does nottake sides in the old "nature versus nurture argu...
Aspirin Decreases Genetic Mutations Associated With Inherited Colon Cancer
... in 1993 to be the cause ofthe most common form of hereditary
cancer known as Hereditary NonpolyposisColorectal ...scovered theconnection of mismatch repair genes to hereditary
cancer there was reallynothing we could recommend to families besides increased [and sometimes painf...
Proteins Deep Inside The Nucleus Hold Clues For Two Diseases
...ons -- fragile Xsyndrome, the most common cause of hereditary
mental retardation; and spinalmuscular atrophy (SMA), the leading genetic cause of infant death. Specifically,the Penn group has focused on a group of 20 RNA-binding proteins called hnRNPs,which are important in the formation of mRNA. "In terms of c...
Fetuses Destined For Abortion May Be Used To Test Gene Therapy
...ne therapy in 1990, when he treated childrenwith a hereditary
disorder called severe combined immune deficiency (SCID),caused by the lack of an enzyme vital for the development of the immune system.At a meeting of the National Institutes of Health Recombinant DNA AdvisoryCommittee (RAC) on 24 September, Anderso...
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