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Mutations in Medical News

Genome of Leukemia Patient Reveals Common Mutations

Findings could help scientists understand genetic basis of cancer WEDNESDAY, Aug. 5 (HealthDay News) -- Decoding the genome of a man with acute myeloid leukemia (AML) revealed genetic mutations that may be common among other cancer patients. Scientists at the Washington University S...

JNCI news brief: Hepatitis B virus mutations may predict risk of liver cancer

Certain mutations in the DNA of the hepatitis B virus (HBV) are associated with the development of liver cancer and may help predict which patients with HBV infections are at increased risk of the disease, according to a large meta-analysis in the Journal of the National Cancer Institute , publis...

Quest Diagnostics Introduces First Comprehensive Laboratory Test To Analyze KRAS, NRAS, and BRAF Gene Mutations in Reflex Testing Service

EGFR Pathway Test analyzes in sequential reflex fashion more mutations potentially inhibiting anti-EGFR therapy response in metastatic colorectal cancer patients MADISON, N.J., June 1 /PRNewswire-FirstCall/ -- Quest Diagnostics Incorporated (NYSE: DGX ), the world's leading cancer diagnost...

Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening

Company's Scientists also Enhance Industry Standards for Quality Screening in Three Articles Published in The Journal of Molecular Diagnostics MADISON, N.J., April 27 /PRNewswire-FirstCall/ -- Quest Diagnostics scientists provide new insights into genetic factors affecting the accuracy an...

First noninvasive technique to accurately predict mutations in human brain tumors

DENVER Donald O'Rourke, MD, Associate Professor of Neurosurgery at the University of Pennsylvania School of Medicine and colleagues, were able to accurately predict the specific genetic mutation that caused brain cancer in a group of patients studied using magnetic resonance imaging (MRI). The re...

Men With BRCA Gene Mutations Unaware of Cancer Risks

They need to be more aware of the threats to themselves and relatives, study says FRIDAY, Feb. 27 (HealthDay News) -- Men who are part of families in which some members have BRCA1 or 2 gene mutations -- which boost the risk for breast and ovarian cancer -- typically avoid genetic couns...

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Mutations in Medical Technology

More Gene Mutations Linked to Autism Risk

--Combination of Inherited and New Genetic Mutations Acting Together-- PHILADELPHIA, June 26 /PRNewswire-USNewswire/ -- More pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from The Children's Hospital of Philadelphia...

Targeting Specific Mutations Reveals Promising New Approach to Treating Genetic Disorders; Preclinical Data Published in Nature

PTC124 Targets Nonsense Mutations; Addresses Underlying Cause of Genetic Disorders and Restores Protein Function SOUTH PLAINFIELD, N.J., April 23, 2007 /PRNewswire/ -- New preclinical data published online in the current edition of the journal Nature show that PTC124, an investigational new drug d...

Vectibix(R) in Combination With Chemotherapy Significantly Improved Progression-Free Survival in First-Line Metastatic Colorectal Cancer

...h respect to the presence or absence of activating mutations in KRAS in the tumor itself. Tumor KRAS statu...een activated or therapeutically inhibited. KRAS mutations occur in approximately 40 - 50 percent of mCRC. ...tment benefit for patients whose tumors had KRAS mutations in codon 12 or 13. In December 2007, the EM...

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

...bitux/Vectibix in patients whose tumors had KRAS mutations in codon 12 or 13," and that the use of the drugs ...gists. Most colorectal cancer is caused by somatic mutations and is not hereditary. mutations in the oncogene KRAS are seen in over 40 percent...

Researchers Create First Targeted Knockout Rats Using Zinc Finger Nuclease Technology

...ered ZFNs into early-stage embryos and rapidly generate heritable, knockout mutations in a whole organism. Rats are physiologically more similar to huma...ug-evaluation studies using serial sampling. Generating rats with knockout mutations has been a major challenge, but the new technique will increase the rat's u...

Fruitfly Model of a Neuropathic Disease Demonstrates Novel Role for Proteins in the Family of aTyr Pharma's Product Class

...eated in the fruit fly (Drosophila) by introducing mutations in the tyrosyl-tRNA synthetase which correspond to disease associated mutations in humans. These dominant mutations do not cause a loss in the protein synthesis activ...
Mutations in Medical Products

Hyperhomocystinemia, C677T and A1298C Mutations

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

MGB Alert Norovirus 1 & 2 ASR*

Description:...urve analysis, Nanogen is now able to provide molecular labs more powerful tools for detecting nucleic acid sequences of specific organisms or genetic mutations associated with disease, as well as enabling labs to probe molecular sequences that may not be accessible with other technologies. MGB Alert Detectio...
Company:Nanogen, Inc.

MGB Alert HHV-6 ASR*

Description:...urve analysis, Nanogen is now able to provide molecular labs more powerful tools for detecting nucleic acid sequences of specific organisms or genetic mutations associated with disease, as well as enabling labs to probe molecular sequences that may not be accessible with other technologies. MGB Alert Detectio...
Company:Nanogen, Inc.

MGB Alert Mycoplasma pneumoniae ASR*

Description:...urve analysis, Nanogen is now able to provide molecular labs more powerful tools for detecting nucleic acid sequences of specific organisms or genetic mutations associated with disease, as well as enabling labs to probe molecular sequences that may not be accessible with other technologies. MGB Alert Detectio...
Company:Nanogen, Inc.

MGB Alert HSV 1, 2 Typer ASR*

Description:...urve analysis, Nanogen is now able to provide molecular labs more powerful tools for detecting nucleic acid sequences of specific organisms or genetic mutations associated with disease, as well as enabling labs to probe molecular sequences that may not be accessible with other technologies. MGB Alert Detectio...
Company:Nanogen, Inc.

NGEN HFE ASRs*

Description:...roduct line includes reagents for the detection of mutations associated with cystic fibrosis, thrombosis, and h...es. Nanogen offers reagents for detection of three mutations associated with Hereditary Hemochromatosis (HH). R...eotides for the detection of C282Y, H63D, and S65C mutations of the HFE gene. Laboratories may use the reagents...
Company:Nanogen, Inc.
Mutations in Medical Definition

Atransferrinemia

...suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States [2] and identified mutations in the TF gene as a probable cause of the disorder. Treatment Treatment with infusions of plasma or purified apotransferrin may stabilise...

Familial isolated vitamin e deficiency

...ed Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease. Symptoms are much like those of Friedreich ataxia and is caused by mutations in the gene for a-tocopherol transfer protein. ...

Personalized medicine

... to cancer. Recent medical research indicates that medications, lifestyle changes and increased screening can mitigate some risk. An example is BRCA mutations where the carrier can have an increased lifetime risk of 85% for developing a breast cancer or up to 40% increased risk of getting ovarian cancer. Now...

Thymocyte

... entry to the peripheral bloodstream , the cells are considered mature T cells, and not thymocytes. Cancer Thymocytes that gain oncogenic mutations allowing uncontrolled proliferation can become thymic lymphomas . Alternative lineages As well as classical T cells, a number of alternat...
Mutations in Medical Dictionary

Waardenburg syndrome

...d by ... Publications" for new studies on Waardenburg syndrome . ... ... known types of Waardenburg syndrome are distinguished by their ... mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome . ... Waardenburg syndrome is a group of hereditary con...

Usher Syndrome

.... Insights from our Research Leaders. Patient Profiles ... of RP and the various forms of Usher syndrome will be discussed. ... Article: GPR98 mutations cause Usher syndrome type 2 in males. Article: A large deletion in GPR98 causes type IIC Usher syndrome ... Types of Usher Syndrome . RP...

Urea Cycle

... genetic ... The Urea Cycle . Urea is the chief nitrogenous waste of mammals. ... several inherited diseases of the urea cycle caused by mutations in genes ... Linking families, friends and professionals who are dedicated to the identification, treatment and cure. Increase your knowle...

Testicular feminization

... Androgen insensitivity syndrome (AIS), also referred to as androgen resistance syndrome, is a set of disorders of sex development caused by mutations of the gene encoding the androgen receptor. The nature of the resulting... Online Medical Dictionary and glossary with medical definitions ......

Testes

... resistance syndrome, is a set of disorders of sex development caused by mutations of the gene encoding the androgen receptor. The nature of the resulting.... Recipient mouse testes have been generated through the use of genetic mutations ... Testes ... Testes . Male reproductive anatomy. Sperm. Definition...

Telangiectasia

... ... of hereditary hemorrhagic telangiectasia include type 1, type ... mutations in the ACVRL1, ENG, and SMAD4 genes cause hereditary hemorrhagic telangiectasia . ... Ataxia- telangiectasia is a rare inherited ... mutations in the ATM gene cause ataxia- telangiectasia . ... MedlinePlus Encycloped...
Mutations in Biological News

Further gene mutations linked to autism risk

Pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from the University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia (CHOP). The study identified 27 different genetic regions where rare copy n...

Rapid approach to identify influenza A virus mutations and drug resistance developed

Genome Institute of Singapore scientists, led by Christopher Wong, Ph.D., have developed a novel approach to uncover the complete sequence of any influenza A virus, including H1NI, with just a quick nasal swab or nasal pharyngeal wash from patients. The new method, which enables scientists to ...

Penn biologists discover how 'silent' mutations influence protein production

PHILADELPHIA - Biologists at the University of Pennsylvania have revealed a hidden code that determines the expression level of a gene, providing a way to distinguish efficient genes from inefficient ones. The new research, which involved creating hundreds of synthetic green-glowing genes, provid...

Researchers discover gene mutations that cause childhood brain cancer

March 8, 2009 TORONTO Researchers funded by the Canadian Cancer Society have discovered eight similar genes that, when mutated, appear to be responsible for medulloblastoma the most common of childhood brain cancers. The findings are published today in the online edition of the journal Nature G...

Large reservoir of mitochondrial DNA mutations identified in humans

Blacksburg, Va. Researchers at the University of Newcastle, England, and the Virginia Bioinformatics Institute at Virginia Tech in the United States have revealed a large reservoir of mitochondrial DNA mutations present in the general population. Clinical analysis of blood samples from almost 3,...

'Smothered' genes combine with mutations to yield poor outcome in cancer patients

Johns Hopkins Kimmel Cancer Center researchers have identified a set of genes in breast and colon cancers with a deadly combination of traditional mutations and "smothered" gene activity that may result in poor outcomes for patients. The Hopkins team showed that this smothering process, called ...

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Mutations in Biological Technology

Exosome Diagnostics and DxS Diagnostic Innovations Collaborate to Develop Blood-Based Tests for Key Cancer Mutations

NEW YORK, June 22 /PRNewswire/ -- Exosome Diagnostics, Inc. ("ExosomeDX") and DxS Ltd. ("DxS") today announced that they will collaborate on the development of blood-based companion diagnostics for key cancer gene mutations, such as KRAS, BRAF and EGFR. The collaboration will use DxS' industry le...

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

OMAHA, Neb., April 7 /PRNewswire-FirstCall/ -- Transgenomic, Inc. (OTC Bulletin Board: TBIO), a leading global biotechnology company, announces that it has completed a licensing option with the Dana-Farber Cancer Institute, Boston, MA with regard to a method known as Cold-PCR. This variation of t...

Detection of Mutations in the CYP21 Gene Using the DCode System

Gita Ohlsson and Marianne Schwartz, Department of Clinical Genetics, Juliane Marie Center, University Hospital, Rigshospitalet, Copenhagen, Denmark Introduction Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficie...

Identification of Disease Causing Mutations in Phenylketonuria by Denaturing Gradient Gel Electrophoresis Using the DCode System

Luc Michiels 1 , Baudouin Franois 1, 2 , and Jef Raus 1, 2 , 1 Dr. L. Willems-Instituut and 2 Limburgs Universitair Centrum, Universitaire Campus, B-3590 Diepenbeek, Belgium Introduction Phenylketonuria (PKU) is a hereditary...

Detection of Mutations in the Fas Antigen of Lymphoma Tumors by RT-PCR and Denaturing Gradient Gel Electrophoresis

Terry H. Landowski, Ibrahim Buyuksal, and William S. Dalton H. Lee Moffitt Cancer Center and Research Institute, University of South Florida, 12902 Magnolia Drive, Tampa FL 33612 Introduction Identifying of mutations within specific genes has...

Detection of K-ras Point Mutations in the Pancreas by Constant Denaturing Gel Electrophoresis Using the DCode System

Martin A.O.H. Menke*, Axel Reinecke-Lthge*, Barbara Mllmann*, Angela Kellner, Jutta Lttges*, Gnter Klppel* * Department of Pathology and Department of Hematopathology, Christian- Albrechts University Kiel, Michaelisstrae 11, D-24105 Kiel, Germany. ...

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Mutations in Biological Products

Mouse Anti-Human Complex IV, assembly factor SURF1 Monoclonal Antibody, Unconjugated, Clone 21H2BG4 from MitoScience LLC

Description:...in the folding of subunit II and parallel Cu2+ insertion into this subunit. mutations of SURF1, particularly ones that result in an absence or near absence of th...mbly. In cells where cytochrome c oxidase assembly is incomplete because of mutations in genes for structural subunits of the enzyme SURF1 is significantly over-...
Company:MitoScience LLC

Mutation Explorer from SoftGenetics, LLC.

Description:...erforms alignments and mutation detection comparing both forward and reverse patient traces to reference or normal traces. Homozygote and Heterozygote mutations are indicated by sharp peaks in our exclusive mutation electropherogram....
Company:SoftGenetics, LLC.

Origami(DE3) Glycerol Stock from Novagen

Description:... Origami host strains are K-12 derivatives that have mutations in both the thioredoxin reductase (trxB) and glutathione reductase (gor) ge...ompatible with expression from pETBlue and pTriEx vectors. The trxB and gor mutations are selectable on kanamycin and tetracycline, respectively; therefore, this...
Company:Novagen

Origami(DE3)pLysS Glycerol Stock from Novagen

Description:... Origami host strains are K-12 derivatives that have mutations in both the thioredoxin reductase (trxB) and glutathione reductase (gor) ge...ompatible with expression from pETBlue and pTriEx vectors. The trxB and gor mutations are selectable on kanamycin and tetracycline, respectively; therefore, this...
Company:Novagen

Mouse Anti-Presenilin 2 Monoclonal Antibody, Unconjugated, Clone APS 26 from GeneTex

Description:...zheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main com...
Company:GeneTex

MaV203 Competent Yeast Cells Library Scale from Invitrogen

Description:... strain MaV203 contains deletions in the endogenous GAL4 and GAL80 genes for use with GAL4-based two-hybrid systems. The strain also has leu2 and trp1 mutations for selection of ProQuest bait and prey vectors. MaV203 contains three GAL4 inducible reporter genes, providing four phenotypes, for easier identifica...
Company:Invitrogen
Mutations in Biological Definition

Bioinformatics

...ograms are used to find similar sequences in the genome of dozens of organisms, within billions of nucleotides . These programs can compensate for mutations (exchanged, deleted or inserted bases) in the DNA sequence, in order to identify sequences that are related, but not identical. A variant of this seq...

Cancer

...d to ensure the integrity of organs and tissues . mutations in DNA that lead to cancer appear to disrupt the...isease of genes . Typically, a series of several mutations is required before a cell becomes a cancer cell. ...e oncogenes or tumor suppressor genes. In general, mutations in both types of genes are necessary, as a mutatio...

Genetic code

...code is what accounts for the existence of silent mutations . These properties of the genetic code make it m... codons can tolerate one out of the three possible mutations at the third position. Since transition mutations (purine to purine or pyrimidine to pyrimidine muta...

Bioinformatics

...ograms are used to find similar sequences in the genome of dozens of organisms, within billions of nucleotides . These programs can compensate for mutations (exchanged, deleted or inserted bases) in the DNA sequence, in order to identify sequences that are related, but not identical. A variant of this seq...

Ploidy

...chromosome 21 (the cause of Down syndrome ) are relatively common. Many forms of cancer have incorrect ploidy numbers, due to the accumulation of mutations which increase chromosome missegregation . Polyploidy Polyploidy is the state where all cells have multiple pairs of chromosomes beyond the ...

Digital organism

... core world programs were written was very brittle, and more often than not mutations would completely destroy the functionality of a program. The first to sol...d. However, Ray made some key changes to the programming language such that mutations were much less likely to destroy a program. With these modifications, he ob...
Mutations in Biological Dictionary

Insertion mutations

In genetics, an insertion is the addition of one or more nucleotide base pairs into a DNA sequence. This can often happen in microsatellite regions due to the DNA polymerase slipping. Insertions can be anywhere in size from one base pair incorrectly inserted into a DNA... In biology,...

Wobble base pair

...... The A2453-C2499 wobble base pair in Escherichia coli 23S ribosomal RNA is ... wobble base pairs by introducing both single and double mutations at each pair . ... ... for you below, a wobble interaction is the interaction formed between the third base of a tRNA codon between ... A w...

Urea cycle

...ospital at ... The Urea Cycle . Urea is the chief nitrogenous waste of mammals. ... several inherited diseases of the urea cycle caused by mutations in genes ... Cincinnati Children's Hospital Medical Center offers information on Urea Cycle Disorder (UCD) ... A urea cycle disorder (UCD) ...

Tumor suppressor

...teractions of the Arf tumor suppressor protein with nucleophosmin/B23" ... A non- tumor suppressor role for basal p19ARF in ... : Frequent mutations or deletions of PTPRD are found in both melanoma and glioblastoma multiforme. ... Suppressor of Melanoma Tumor Growth Identified ... Arf Tumor...

Triplet repeat expansion

...epeat expansion interferes with transcription. ... ... dominant, was found to result from expansion of a triplet repeat (CAG) as well. ... mutations give rise to repeat expansion RNAs that form nuclear ... Recently, the CTG repeat expansion in the DMPK gene causing myotonic dystrophy ....

Transposition

...DNA that can move around to different positions within the genome of a single cell, a process called transposition . In the process, they can cause mutations and change the amount of DNA in the... Transposition (mathematics), a permutation which exchanges two elements and ... Transposition (...
Other Tags
(Date:7/11/2014)... The report “Probiotics Market by ... Feed), Applications (Regular, Therapeutic, Preventive Health Care) & ... Forecasts to 2019 ” defines and segments the ... of the market value of probiotic products and ... restraining factors for the global market with an ...
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(Date:7/11/2014)... Sweden, have explored two different ways that allow ... to the formation of oxygen molecules in photosynthesis. ... scientific journal Nature Communications . , "The ... catalysts for water oxidation, which are key components ... storage of solar energy in fuels like hydrogen, ...
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(Date:7/11/2014)... 1 can inhibit voltage-gated calcium channel, decrease ... However, some scholars demonstrated that cannabinoid receptor ... and increase neurotransmitter release. Dr. Yi Zhang ... Tongji Medical College, Huazhong University of Science ... and calcium imaging in cultured trigeminal ganglion ...
Breaking Biology News(10 mins):Molecular snapshots of oxygen formation in photosynthesis 2
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