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Mutation in Medical News

Gene Mutation Could Be Key to Rare Blood Vessel Disease

Finding may lead to new treatments, researcher says WEDNESDAY, July 22 (HealthDay News) -- Mutations in a protein called thrombomodulin, which is involved in blood clotting and preventing cell damage, may be the cause of some atypical HUS, a new Canadian study suggests. The finding ...

Gene Mutation Is Linked to Heart Muscle Disease

Findings shed light on understanding of dilated cardiomyopathy WEDNESDAY, July 15 (HealthDay News) -- Gene mutations that cause heart muscle disease and chronic heart failure in some children and adults with dilated cardiomyopathy have been identified by researchers. Dilated cardiom...

Cancer Researchers Link DICER1 Gene Mutation to Rare Childhood Cancer

Finding may have implications for gene's role in other cancers Washington, DC (Vocus) June 25, 2009 -- Research published today in Science Express from the journal Science demonstrates the first definitive link between mutations in the gene DICER1and cancer. By studying...

Clarient Launches New Gene Mutation Test to Help Select Therapy for Non-Small Cell Lung Cancer

Epidermal Growth Factor Receptor Mutation Test May Be Key To Identifying Patient Response to Drug Therapies ALISO VIEJO, Calif., June 16 /PRNewswire-FirstCall/ -- Clarient, Inc. (Nasdaq: CLRT ), a premier anatomic pathology and molecular testing services resource for pathologists, oncologis...

USC researchers identify DNA mutation that occurs at beginning point of T-cell lymphoma

Researchers at the Keck School of Medicine of the University of Southern California (USC) have identified a key mechanism that causes chromosomes within blood cells to breakan occurrence that marks the first step in the development of human lymphoma. The study provides researchers with the clea...

Gene Mutation May Up Risks of Endometrial Cancer

Marker indicates aggressiveness of the disease, study finds,, ,, WEDNESDAY, May 27 (HealthDay News) -- A genetic marker for aggressive endometrial cancer has been identified by U.S. researchers, who said their finding could lead to more targeted and risk-appropriate treatments. The ...

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Mutation in Medical Technology

New Research Shows One in 200 People Born with DNA Mutation That Can Lead to Devastating, Often Fatal Disease

Mutation Causing Mitochondrial Disease More Common Than Previously Believed PITTSBURGH, Aug. 11 /PRNewswire-USNewswire/ -- The United Mitochondrial Disease Foundation (UMDF) today announced landmark research finding that one in every 200 people has a DNA mutation that could potentially cause...

Genoptix, Inc. Announces Availability of MPL W515 L/K Mutation Analysis for MPD at 49th Annual American Society of Hematology (ASH) Meeting

SAN DIEGO, Dec. 7 /PRNewswire-FirstCall/ -- Genoptix, Inc. (Nasdaq: GXDX), a provider of personalized diagnostic services, announced today at the ASH Meeting in Atlanta, Georgia, that it will launch testing for the MPL W515 L/K mutation. This new test further expands the Genoptix service offer...

Avastin(R) Shows Unprecedented Benefits in Colorectal Cancer Patients, Irrespective of K-Ras Gene Mutation

- For Non-US Media Only - Avastin is the Only Biologic Proven to Extend Life in Patients With Normal K-Ras Gene BASEL, Switzerland, June 26 /PRNewswire/ -- Data presented today at the 10th World Congress on Gastrointestinal Cancer (WCGC) in ...

Independent Publication Confirms Growing Therapeutic Challenge of T315I Mutation in Patients with CML, Notes ChemGenex

MELBOURNE, Australia, and MENLO PARK, California U.S.A. (May 21, 2007): ChemGenex Pharmaceuticals (ASX: CXS, NASDAQ: CXSP) notes the publication of new clinical data relevant to the development strategy for Ceflatonin® (homoharringtonine). The paper "Targeted therapy and the T315I mutation in ...

Independent Publication Confirms Growing Therapeutic Challenge of T315I Mutation in Patients with CML, Notes ChemGenex

MELBOURNE, Australia & MENLO PARK, Calif.--(BUSINESS WIRE)--May 21, 2007 - ChemGenex Pharmaceuticals (ASX: CXS, NASDAQ: CXSP) notes the publication of new clinical data relevant to the development strategy for Ceflatonin(R) (homoharringtonine). The paper "Targeted therapy and the T315I mutation...

ARUP Laboratories Applauds FDA's Decision on the Value of KRAS-Mutation Testing in Colorectal Cancer

... mutation-detection test can potentially eliminate ineffective patient treatment and decrease health care expenses. ARUP's technical bulletin, " KRAS mutation Detection in Colorectal Cancer; For Determining Mutational Status that Confers Resistance to Anti-EGFR Therapy ," elaborates on this testing and can ...
Mutation in Medical Products

Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II), Fetal

Description: ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ARUP offers an extensive test menu of highly complex and unique medical tests in clinical and anatomic pathology. Owned by the University of Utah, ARUP Laboratories' client...
Company:ARUP Laboratories

Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II)

Description: ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ARUP offers an extensive test menu of highly complex and unique medical tests in clinical and anatomic pathology. Owned by the University of Utah, ARUP Laboratories' client...
Company:ARUP Laboratories

Methylenetetrahydrofolate Reductase Mutation Detection, Fetal

Description: ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ARUP offers an extensive test menu of highly complex and unique medical tests in clinical and anatomic pathology. Owned by the University of Utah, ARUP Laboratories' client...
Company:ARUP Laboratories

Methylenetetrahydrofolate Reductase Mutation Detection (Thermolabile Form) (C677T & A1298C)

Description: ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ARUP offers an extensive test menu of highly complex and unique medical tests in clinical and anatomic pathology. Owned by the University of Utah, ARUP Laboratories' client...
Company:ARUP Laboratories

JAK2 (V617F) Mutation by PCR

Description: ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ARUP offers an extensive test menu of highly complex and unique medical tests in clinical and anatomic pathology. Owned by the University of Utah, ARUP Laboratories' client...
Company:ARUP Laboratories

Hereditary Hemorrhagic Telangiectasia Family Specific Mutation (HHT)

Description: ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ARUP offers an extensive test menu of highly complex and unique medical tests in clinical and anatomic pathology. Owned by the University of Utah, ARUP Laboratories' client...
Company:ARUP Laboratories

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Mutation in Medical Definition

Personalized medicine

...lling specific cells whereas chemotherapy can kill both deranged and healthy cells. Because of this ability to molecularly detect true disease causing mutation a whole new reclassification of cancer has begun. So has the unimagined use of several of these "targeted" drugs. Gleevec sales have exceeded $500 mil...
Mutation in Medical Dictionary

Mutation

This document explains in a lucid way the types of mutations along with the biochemical explaination and scientific logic.... A mutation is a heritable change in the nucleotide sequence of an organism's DNA ... a result, the sickle-cell mutation persists in populations where malaria ... ...

Vein

.... News from Louisville, weather, sports, investigators, troubleshooter, Louisville jobs, ... Vein removal method linked to bypass results. Gene mutation is ... DVT may damage the vein and cause the leg to ache, swell, and change color. ... through a vein (intravenously, or IV) ... What causes ...

Usher Syndrome

... Usher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome ,... This fact sheet provides a brief, easy-to-understand r...

Rett syndrome

..... WebMD explains what causes Rett syndrome , a rare form of autism that affects only girls. ... Most children with Rett syndrome have a mutation in a particular ... Rett syndrome ( ′ret ′sin′drōm ) ( psychology ) An inherited developmental disorder observed only in females that is ch...

Protein S

...re than one ... The secondary protein structure occurs when the sequence of amino acids are ... Though proteins themselves do not mutate, a mutation in the genetic material of ... ...

Noonan syndrome

...f this genetic disease. ... Noonan syndrome is caused by a genetic mutation and ... Noonan syndrome — Comprehensive overview covers causes, sy...f this genetic disease. ... Noonan syndrome is caused by a genetic mutation and ... Noonan syndrome (NS) is a genetic disorder characterized...
Mutation in Biological News

Scientists discover gene mutation responsible for hereditary neuroendocrine tumor

SALT LAKE CITY University of Utah researchers and their colleagues have identified the gene that is mutated in a hereditary form of a rare neuroendocrine tumor called paraganglioma (PGL). The gene, called hSDH5, is required for activation of an enzyme complex that plays a critical role in the che...

Stowers researchers develop whole genome sequencing approach for mutation discovery

The Stowers Institute's Hawley Lab and Molecular Biology Facility have developed 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 t...

Gene mutation increases drug toxicity, rejection risk in pediatric kidney transplants

CINCINNATI Screening for mutations in a gene that helps the body metabolize a kidney transplant anti-rejection drug may predict which children are at higher risk for side effects, including compromised white blood cell count or organ rejection, according to new research. Published online Feb. ...

The heart disease mutation carried by 60 million

Heart disease is the number one killer in the world and India carries more than its share of this burden. Moreover, the problem is set to rise: it is predicted that by 2010 India's population will suffer approximately 60% of the world's heart disease. Today, an international team of 25 scientists ...

Study on origin of mutation that causes fatal familiar insomnia

This release is available in Spanish . A PhD thesis at the University of the Basque Country (UPV/EHU) has studied the origin of the mutation that causes Fatal Familiar Insomnia (FFI). In the Autonomous Community of the Basque Country there is a high rate of carriers of this mutation 50%...

Genetic mutation causes familial susceptibility for degenerative brain disease

CINCINNATI Mutation of a gene that helps proteins migrate in and out of the cell's genetic command center the nucleus puts some families at higher risk for the degenerative brain disease acute necrotizing encephalopathy (ANE). This is the conclusion of a global study to be published Jan. 9 b...

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Mutation in Biological Technology

Exiqon Diagnostics Partners With MedTrust Online to Promote KRAS Mutation Analysis and Other Innovative Molecular Oncology Diagnostic Services to Oncologists

TUSTIN, Calif., May 29 /PRNewswire/ -- Exiqon Diagnostics, announced today a strategic commercial partnership with MedTrust Online, an innovative, comprehensive internet based solution provider for oncologists that offers clinically useful knowledge on the latest topics in cancer treatment. Exiqo...

Roche Signs Exclusive Distribution Deal with DxS for K-RAS and EGFR Cancer Mutation Tests

Tests identify genetic mutations that can affect patient response to certain cancer drugs PLEASANTON, Calif., June 2 /PRNewswire/ -- Roche and DxS Ltd. have signed an exclusive distribution agreement for the DxS TheraScreen K-RAS Mutation Test and TheraScreen EGFR 29...

Rapid, High Throughput Mutation Discovery Using Fluorescent SSCP on the ABI PRISM 3100 and 3100Avant Genetic Analyzers

Abstract Single-strand conformation polymorphism (SSCP) analysis on the ABI PRISM 3100 and the 3100 Avant Genetic Analyzers provides fast, easy detection of small variations in DNA sequences, including singlebase substitutions, insertions, or deletions. SSCP An...

A Multiple Mutation Model System as a Test Development and Training Tool for Denaturing Gradient Gel Electrophoresis

Michael Hepburn and Glenn A. Miller, Ph.D., Molecular Profiling Laboratory, Genzyme, Framingham, MA Introduction The search for sequence variations in genomic DNA is important in the study of genes that play a role in the devel...

Tissue Specificity for Mutation Parallels Tissue Specificity for Cancer

Measure mutations in any tissue with the Big Blue transgenic rodent mutation assay Johan G. de Boer Barry W. Glickman Centre for Environmental Health, University of Victoria, Victoria, BC Canada With Stratagenes Big Blue transgenic rodent mutation assay,* which carrie...

Organize Your Data from the Big Blue Mutation Assay

Record, analyze, and report data with the MutaTrak electronic notebook G. (Paul) Kotturi Mark J. Dycaico Stratagene Marc Hamovitch Doug Schroeder Solana Consulting Group, Solana Beach, CA Stratagene introduces the MutaTrak electronic notebook to record Big Blue...

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Mutation in Biological Products

Mutation Explorer from SoftGenetics, LLC.

Description:... mutation Explorer processes up to 48 lanes, 24 bi-direction...es of the patient to reference as indicated in the mutation electropherogram. Most analysts have found, after ...tomatically forms contigs, performs alignments and mutation detection comparing both forward and reverse patie...
Company:SoftGenetics, LLC.

Bacterial Strain BMH 71-18 mutS, Glycerol Stock (noncompetent) from Promega

Description:...S are mismatch repair minus strains of E. coli. Use of these strains prevents repair of the newly synthesized unmethylated strand (1), leading to high mutation efficiencies and making them helpful in such systems as the GeneEditor and Altered Sites II Mutagenesis Systems. Both ES1301 and BMH 71-18 mutS are re...
Company:Promega

Bacterial Strain ES1301 mutS, Glycerol Stock (noncompetent) from Promega

Description:...S are mismatch repair minus strains of E. coli. Use of these strains prevents repair of the newly synthesized unmethylated strand (1), leading to high mutation efficiencies and making them helpful in such systems as the GeneEditor and Altered Sites II Mutagenesis Systems. Both ES1301 and BMH 71-18 mutS are re...
Company:Promega

ExcelGel DNA Analysis Kit from GE Healthcare, formerly Amersham Biosciences

Description:...in detection offer maximum handling convenience and detection sensitivity. Category: DNA Sequencing & Fragment Analysis, Manual Fragment Analysis and mutation Detection....
Company:GE Healthcare, formerly Amersham Biosciences

Mutation Surveyor from SoftGenetics, LLC.

Description:...curate comparison of the entire sample trace. With mutation Surveyor, any found variants of the sample when co...ared to the wild type are clearly indicated in our mutation electropherogram as a sharp peak. Accuracy of the...when processing single direction sequence traces. mutation Surveyors detection sensitivity has been enhanced ...
Company:SoftGenetics, LLC.

Complete SSCP Kit, 20 cm from Bio-Rad

Description:...mplete SSCP kit provides all the accessories necessary for casting gels for mutation detection by single-stranded conformation polymorphism analysis (SSCP) with the DCode universal mutation detection system. The kit includes a cooling finger adaptor for use with an...
Company:Bio-Rad
Mutation in Biological Definition

Adaptive radiation

...iation describes the rapid speciation of a single or a few species to fill many ecological niches . This is an evolutionary process driven by mutation and natural selection . Adaptive radiation often occurs when a species is introduced to a new ecosystem , or when a species can survive in an en...

Albumin

...roduction (as in starvation) Excess excretion by the kidneys (as in nephrotic syndrome ) Excess loss in bowel (protein losing enteropathy) mutation causing albuminemia (very rare) Links Human albumin structure in the Protein data bank [1] ...

Allele frequency

...to changes in the distribution and frequencies of alleles -- in other words, to evolution . Besides selection, these forces include genetic drift , mutation and migration . Compare genotype frequency . Example If there are ten individuals in a population and at a given locus there are two possi...

Alternative splicing

...gma of genetics which is about the flow of information from genes to proteins). Since the ways of regulation are inherited, the interpretation of a mutation may be changed. It has been proposed that for eukaryotes it was a very important step towards higher efficiency, because information can be stor...

Ames test

...etically modified such that only a certain type of mutation (i.e. a base pair mutation or a frameshift mutation) will cause the strand to...mal state, not requiring nutrients to grow. If the mutation screened for has in fact occurred dense spots in t...

Antibiotic resistance

...and the effects of an antibiotic . Antibiotic resistance develops through mutation or plasmid exchange between bacteria of the same species . If a bacte...antibiotic action is an environmental pressure; those bacteria which have a mutation allowing them to survive will live on to reproduce. They will then pass th...
Mutation in Biological Dictionary

Mutation

In biology, mutations are changes to the nucleotide sequence of the genetic material of an organism. Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or... mutation n. The act or process of being altered or changed. .....

Silent Mutation

Silent mutations are DNA mutations that do not result in a change to the amino acid sequence of a protein. They may occur in a non-coding region, or they may occur within an exon in a manner that does not alter the final amino acid sequence. The phrase silent mutation is often used in...

Point Mutation

A point mutation , or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide of the genetic material, DNA or RNA. Often the term point mutation also includes insertions or deletions of a single base pair. One ...

Nonsense Mutation

In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein... In biology, mutations are changes to the nucleotide seq...

Missense Mutation

In genetics, a missense mutation is a point mutation in which a single nucleotide is changed, resulting in a codon that codes for a different amino acid. This can render the resulting protein nonfunctional. Such mutations are responsible for diseases such as Epidermolysis bullosa, sickl...

Homeotic mutation

Homeosis is the transformation of one body part into another, arising from mutation in or misexpression of specific developmentally critical genes. It may be caused by mutations in Hox genes, found in animals, or others such as the MADS-box family in plants. Homeosis is a characteristic that ...

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