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Mutation in Medical News

Abnormal Brain Circuits May Prevent Movement Disorder

... Most people who carry a genetic mutation for a movement disorder called dystonia will ... has puzzled scientists since the first genetic mutation was identified in the 1990s. Now, scientists at ... for Medical Research have figured out why these mutation carriers are protected from symptoms of the ...

New drug for children with high-risk leukemia

... relapse." The first researchers to discover a mutation of the JAK2 protein in patients with Down ... syndrome According to Dr. Izraeli, a similar mutation of the JAK2 in Down syndrome and leukemia causes ... of blood. This discovery of a similar mutation in a subset of pediatric leukemia cases may ...

Study Shows a Link Between Schizophrenia & Genetic Mutations

... S. Sommer, MD, PhD, with the mission of providing mutation Expert-based Diagnosis ("MED") to support the ... analysis of the patient's genome ("omics"). The mutation experts at MEDomics provide unparalleled quality ... Kelly Gonzalez and Bill Scaringe, discovered mutation showers. ...

Catastrophic Epilepsy Caused by Defect in One Gene

... Mouse study led to discovery of mutation and could advance treatments WEDNESDAY, July 8 (HealthDay News) -- A mutation in a single gene causes catastrophic epilepsy, ... disorder." Noebels and his team found that a mutation on a gene called Aristaless-related homeobox ...

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 ... today announced the launch of a new gene mutation test that can help physicians select the proper ... physicians and their patients. "Our new EGFR mutation test can be used as a predictive molecular ...

Ovarian Cancer Breakthrough Heralds New Era of Treatment

... granulosa cell tumors. The culprit is a single mutation out of 3 billion nucleotide pairs that make up the genetic code of the tumor. The mutation is present in every granulosa cell tumor, a rare ... cell tumors, the precise identification of the mutation may help in developing new, badly needed ...

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Mutation in Medical Technology

Encouraging First Data on New Targeted Treatment for Patients With Melanoma - the Deadliest Form of Skin Cancer

... advanced melanoma whose cancer harbours the BRAF mutation (known as mutation-positive ). Patients treated ... first identified we have validation that this mutation is a cancer driver and therapeutic target. In ... study of PLX4032: Proof-of-concept for V600E BRAF mutation as a therapeutic target in human Cancer." ...

Genetic Source of Rare Childhood Cancer Found; Gene is Implicated in Other Cancers

... blastoma (PPB) are born with a deleterious mutation in DICER1, a master controller gene that helps ... one or more cells in the lung acquire a harmful mutation in their functional copy of the DICER1 gene. ... Drs. Hill and Goodfellow uncovered an important mutation and have begun to understand the cellular mix-up ...

IBT Laboratories to Launch New Pneumococcal Antibody Avidity Test at AAAAI Meeting, Booth 729

... AAAAI include the ProGenotyper (TM) Filaggrin mutation Detection Test, the latest in IBT's expanding ... atopic dermatitis or ichthyosis vugaris has a mutation that prevents the skin from working as an ... Current research suggests that patients with this mutation may benefit from targeted therapy. The new T-Cell ...

PTC Therapeutics Completes Enrollment of Pivotal Trial in Muscular Dystrophy

... trial of PTC124 in patients with nonsense mutation Duchenne and Becker muscular dystrophy ... and patients whose disease is due to a nonsense mutation represent only 13 percent of these cases, which ... trial of ataluren in patients with nonsense mutation cystic fibrosis (nmCF) in 2009. The United ...

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 ... finding that one in every 200 people has a DNA mutation that could potentially cause a mitochondrial ... UMDF. "We now know that 1 in 200 people carry the mutation for this horrible, debilitating disease. This ...

Sangamo BioSciences Announces Nature Biotechnology Study Demonstrating the Use of Zinc Finger Nucleases to Generate HIV Resistant T Cells

... experience from individuals that carry a natural mutation in their CCR5 gene suggest that permanent ... Individuals carrying a naturally occurring mutation of their CCR5 gene, a variant known as ... A small fraction of the population carries a mutation in their CCR5 gene, called the delta32 mutation. ...

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Mutation in Medical Products

Factor V/Prothrombin ASRs*

Description:... detection of two genetic mutations associated with thrombosis: the G1691A mutation on the Factor V (Leiden) gene and the G20210A mutation on the Prothrombin gene. Laboratories may use the reagents to create ...
Company:Nanogen, Inc.

Tag-It™ Cystic Fibrosis Kit

Description:... IVD for cystic fibrosis genotyping. With validated performance criteria, this highly accurate and reproducible (>99.9%) assay will provide superior mutation coverage for carrier screening in adults and as an aid to diagnosis in newborns. The Tag-It™ Cystic Fibrosis Kit simultaneously screens for ...
Company:Tm Bioscience Corporation

SEA 2000 Electrophoresis Apparatus

Description:... With the SEA 2000 it is possible to get the best and fastest results in many applications such as PCR checking, RFLP, microsatellites, point mutation analysis (SSCP), ....
Company:Elchrom Scientific AG

LightCycler 480 System

Description:... Another breakthrough in real-time PCR analysis of gene expression and melting curve-based mutation analysis. The LightCycler 480 System combines amazing speed with exceptional accuracy and will meet the needs of a broad range of scientific ...
Company:Roche Diagnostics

Coatest APC Resistance V Kit

Description:... An APTT-based kit for the screening of factor-V-related APC resistance. The high sensitivity and specificity of the test for the factor V:Q506 mutation is obtained by prediluting the sample plasma with an excess of V-DEF Plasma bioreagent. The test design makes it possible to discriminate between ...
Company:DiaPharma Group, Inc.

Pefakit APC-R Factor V Leiden

Description:... FVL is a new functional test which exhibits 100% sensitivity and 100% specificity for Activated Protein C Resistance caused by the Factor V Leiden mutation (FV:Q506). In contrast to other commercially available methods, Pefakit APC-R FVL shows no interference from protein C or S, Lupus Anticoagulants, ...
Company:Centerchem, Inc.

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Mutation in Medical Definition

Personalized medicine

... 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 ...
Mutation in Medical Dictionary

Mutation

... mutation : A permanent change, a structural alteration, in ... or RNA. In humans and many other organ isms, mutation s occur in DNA. However, in retrovirus es like HIV , mutation s occur in RNA which is the genetic material of ...

Retinoblastoma

... Retinoblastoma occurs due to mutation s in a tumor suppressor gene (called RB1) located on chromosome #13. Two mutation s (or gene changes) are necessary to ... Retinoblastoma is sometimes caused by a gene mutation passed from the parent to the child. ...

Zygote

... who have both genes in a pair with the same mutation . HomozygousWhen both genes in a pair have the same mutation . Autosomal dominant inheritance refers to ... zygote s, into the uterus a few days later. mutation , hereditary: A heritable change in the DNA of a ...

Achondroplasia

... . However, because achondroplasia usually arises as a spontaneous mutation , prevention is not always possible. Achondroplasia is inherited as ... , occurs because of a single base pair substitution. This same mutation occurs in all individuals affected with the disease . Specific causes ...

Antigen

... A mechanism for variation by virus es that involves the accumulation of mutation s within the antibody -binding sites so that the resulting virus es ... of chromosomes to break on exposure to radiation Genetic testing for mutation s in the ATM gene . X-ray s showing underdeveloped, small thymus in ...

Autosomal recessive

... by the following: ... Autosomal recessive inheritance pattern A mutation in a single gene causes PKU . This gene contains the instructions ... transmitted as an autosomal recessive trait. The disease results from mutation s in a gene called ATM. Tay-Sachs disease is an autosomal ...

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Mutation in Biological News

Women often opt to surgically remove their breasts, ovaries to reduce cancer risk

... 211 women with known unaffected BRCA1 or BRCA2 mutation carriers. BRCA1 and BRCA2 are hereditary gene ... mastectomy. Forty percent of the women who were mutation carriers underwent bilateral risk-reducing ... within the first two years after the genetic mutation test, but some did not make a decision until ...

Abnormal brain circuits may prevent movement disorder

... MANHASSET, NY -- Most people who carry a genetic mutation for a movement disorder called dystonia will ... has puzzled scientists since the first genetic mutation was identified in the 1990's. Now, scientists at ... for Medical Research have figured out why these mutation carriers are protected from symptoms of the ...

Study links virus to some cases of common skin cancer

... all of the virus found in tumor cells had a mutation that could enable the viral DNA to integrate into ... samples, the researchers showed that the same mutation was present in all the viruses tested from ... "That suggests that the virus may develop a mutation that causes it to integrate into host-cell DNA, ...

New research finds possible genetic link to cause of pregnancy loss and disorders

... team found that if a mother's egg cell has a mutation in just one copy of a gene, called Bub1, then she ... of a gene in a chromosome must carry the same mutation in order for an organism to be adversely effected, but the drastic effects of a single mutation were unexpected. Venkatachalam, working with ...

Toward an explanation for Crohn's disease?

... per cent of Crohn's disease patients have a mutation in what is called the NOD2 gene, but it is not precisely known how this mutation influences the disease. The latest study by Dr. ... of the normal role of NOD2, we think that a mutation in this gene prevents mycobacteria from being ...

New test can detect both genetic and chromosomal abnormalities in embryos

... been diagnosed with the cystic fibrosis gene mutation using conventional preimplantation genetic ... it is not necessary to know the exact DNA mutation that is being sought; the scientists just need to ... chunk of DNA from the parent that carries the mutation somewhere along its length, and if it matches a ...

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Mutation in Biological Technology

PTC Therapeutics Receives $2.6 Million in Government Grants

... trial of ataluren (PTC124(TM)) in nonsense mutation Duchenne and Becker muscular dystrophy ... as a new approach for the treatment of nonsense mutation genetic disorders. Nonsense mutations create a ... is a potential therapy for patients with nonsense mutation genetic disorders. Ataluren has demonstrated ...

MEDomics Announces MitoDx(TM), the First NextGen Mitochondrial Genome Diagnostic Test

... not suspect the disease or because the causative mutation is missed by current methods. " To my ... S. Sommer, MD, PhD, with the mission of providing mutation Expert-based Diagnosis ("MED") to support the ... analysis of the patient's genome ("omics"). The mutation experts at MEDomics provide unparalleled quality ...

Transgenomic, Inc. Announces Appointment of New Board Members

... lab, plus focusing our WAVE system and related mutation detection technology for greater diagnostic and ... automated high sensitivity genetic variation and mutation analysis. Their offerings include systems, ... technology and expertise to provide a menu of mutation scanning tests for over 700 cancer-associated ...

Transgenomic Completes Licensing Option With Dana-Farber Cancer Institute on Cold-PCR for Enrichment of DNA Mutations

... WAVE DHPLC and Surveyor Nuclease products for mutation detection in cancer and mitochondrial diseases," ... will be particularly valuable in cancer-related mutation detection of free DNA in blood and body fluids and in producing a mutation profile of primary tumors to predict resistance ...

Polycystic Kidney Disease Assay at Cornell University Uses Transgenomic's Surveyor Nuclease & WAVE Technology

... Transgenomic's Surveyor Nuclease technology for mutation scanning of PKD1 and PKD2 , two important ... Nuclease's effectiveness in disease specific mutation discovery has been well documented in many ... automated high sensitivity genetic variation and mutation analysis. Their offerings include systems, ...

Transgenomic, Inc. Reports Fourth Quarter and Fiscal Year 2008 Results

... a full product line of key cancer pathway gene mutation kits to complement our WAVE and Surveyor products ... product combo will be enhanced with specific gene mutation kits based on our experience in clinical trial ... automated high sensitivity genetic variation and mutation analysis. Their offerings include systems, ...

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Mutation in Biological Products

Mutation Explorer from SoftGenetics, LLC.

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

Mutation Surveyor from SoftGenetics, LLC.

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

Complete SSCP Kit, 20 cm from Bio-Rad

Description:... 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 ...
Company:Bio-Rad

Taq DNA Polymerase -Klein Taq from AppliChem GmbH

Description:... activity. Significant activity remains even after exposure to 99 C. The mutation rate during polymerization is twofold lower for Klein Taq as compared to ... to extend a mismatched 3'-oligonucleotide end making it suitable for mutation analysis with mutation-specific oligonucleotides. * The product is tested ...
Company:AppliChem GmbH

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

Description:... 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 ...
Company:Promega

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

Description:... 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 ...
Company:Promega

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Mutation in Biological Definition

Ames test

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

Cancer

... Philadelphia chromosome , is a special type of mutation and may involve oncogenes or tumor suppressor ... in both types of genes are necessary, as a mutation limited to an oncogene would be suppressed by ... also known as "the guardian of the genome". This mutation is associated with poor prognosis , since those ...

Genetic code

... the names of the specific genes in which mutation of each of these stop codons was first detected. ... four-fold degenerate codons can tolerate any mutation at the third position; two-fold degenerate codons ... in the genetic code either only causes a silent mutation or an error that would not affect the amino ...

Enzyme

... correct function, and because the frequency of a mutation which would produce a nonfunctional active ... by long stretches of 'spacer' amino acids where mutation is much less critical (although some mutations in ... throughout the amino acid chain, with random mutation occurring anywhere. Enzymes can couple two ...

Evolution

... 1.2.1 Mechanisms of inheritance 1.2.2 mutation 1.3 Differential survival of traits ... and subject to a process of change or mutation (described below). However, other non-DNA ... and the production of heritable variation. mutation Main article: ...

Fitness landscape

... (Fig. 1). There it remains, unless a rare mutation opens a path to a new, higher fitness peak. Note, however, that at high mutation rates this picture is somewhat simplistic. A ... may not be able to climb a very sharp peak if the mutation rate is too high, or it may drift away from a ...

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Mutation in Biological Dictionary

Transversion

... by a spontaneous reversion. Because this type of mutation changes the chemical structure dramatically, the ... can be caused ... transversion n. A point mutation in which a purine is replaced by a pyrimidine, ... has ecology, physiology, ... transversion A mutation in which a purine is replaced by a ... ...

Silent Mutation

... final amino acid sequence. The phrase silent mutation is often used interchangeably with the phrase synonymous mutation ; however, ... In biology, mutations ... BioEd Online provides up-to-date ... A silent mutation is one that changes the triplet, but leaves the ...

Point Mutation

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

Penetrance

... genetics, the penetrance of a disease causing mutation is the proportion ... penetrance n. The ... the age-dependent penetrance of the G2019S mutation at age 85 ... ... risk is caused by disease ... new US study suggests the link between a genetic mutation and the iron overload disorder haemochromatosis ...

Nonsense Mutation

... In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a ...r... FBN1 mRNAs carrying the Y2113X nonsense mutation are subject to NMD. ... The Y2113X nonsense ...

Mutation

... division, by exposure to ultraviolet ... mutation n. The act or process of being altered or changed. ... mutation is a phenomenon significant to many aspects of life on Earth and is one ... This type of mutation is present throughout a person's life in ...

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(Date:12/24/2014)... Dec. 24, 2014 (HealthDay News) -- Researchers say they ... that develop into eggs and sperm. While this ... is the first time that these types of cells ... efficiently using human stem cells, according to the team ... creation of primordial germ cells is one of the ...
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