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Mutations in Medical News

Genome of Leukemia Patient Reveals Common Mutations

... acute myeloid leukemia (AML) revealed genetic mutations that may be common among other cancer patients. ... in a second patient with AML. Neither of the mutations had been previously linked to leukemia. The fact that these mutations sometimes occur in other patients suggest they ...

TGen-led team is 1 of 7 selected for $1 million skin-cancer grants

... with multiple melanoma patients have identified mutations in two genes that strongly predispose to the disease, but these mutations are found only in a minority of families. "To ... chromosomal locations for disease-predisposing mutations in melanoma families. We will also work towards ...

Boehringer Ingelheim to Commence Phase III Study Investigating the Role of BIBW 2992 as First-Line Treatment for Non-Small Cell Lung Cancer (NSCLC) Patients with EGFR Mutations

... 3 trial studying BIBW 2992 in patients with EGFR mutations will be important as we continue to work towards ... diagnostic test kit for BIBW 2992 to identify mutations of the EGFR in patients with NSCLC. Under the ... adenocarcinoma of the lung and activating EGFR mutations (LUX-Lung 2)." 2009 WCLC, Oral Presentation ....

New drug for children with high-risk leukemia

... options. Dr. Izraeli first discovered JAK2 mutations in children who initially suffered from Down ... Dr. Izraeli was then inspired to screen for gene mutations that could result in increased proliferation of ... of two very similar ― but different ― mutations that apparently do the same thing in a cellular ...

Gene Mutation Could Be Key to Rare Blood Vessel Disease

... WEDNESDAY, July 22 (HealthDay News) -- mutations in a protein called thrombomodulin, which is ... risk of developing aHUS," Conway said. mutations in different complement proteins that cause ... "In seven patients, we identified six different mutations in a protein that is on the surface of ...

Study Shows a Link Between Schizophrenia & Genetic Mutations

... genes on the X-chromosome has been identified. mutations in a subset of these regulatory RNA genes may ... because they are much more commonly affected by mutations in genes on the X-chromosome. Eight ultra-rare ... NOT on the X-chromosome, so it is possible that mutations in the miRNA genes can predispose to 20% or more ...

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Mutations in Medical Technology

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

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

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

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

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

... 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 ...

Value of Genetic Testing for Preventing Blood Clots Unproven, According to New AHRQ Study

... to conclude that genetic testing for two gene mutations in adults with a history of blood clots helps to ... of patients who have at least one of the two mutations -- known as Factor V Leiden (FVL) and prothrombin ... The evidence shows that tests for identifying the mutations have excellent analytic validity and that nearly ...

Mutant Genes in High-Risk Childhood Leukemias Identified

... genetic mutations. Discovery of the mutations was led by scientists from St. Jude Children's ... that some high-risk ALL cases might arise from mutations in genes that produce enzymes called kinases, ... and a co-first author of the study. "Such mutations would cause those kinases to be stuck in the on ...

Boehringer Ingelheim to Present New Phase II Clinical Data on Two Lead Oncology Compounds at ASCO 2009

... Treatment of NSCLC Patients with EGFR Activating mutations - (1,2) -The First Presentation of Data on ... "It is well documented that 'activating' mutations that arise in the tyrosine kinase (TK) domain of ... the LUX-Lung 2 study and 104 patients with EGFR mutations have started treatment with BIBW 2992 once daily. ...

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Mutations in Medical Products

NGEN HFE ASRs*

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

ViroSeq HIV-1 Genotyping System

Description:... Human Immunodeficiency Virus (HIV-1) undergoes mutations in an infected patient, especially in response to anti-viral drug treatment. Some of the mutations have been shown to render the virus resistant to ... effectiveness of the treatment. The detection of mutations in HIV-1 that correlate with drug resistance ...
Company:Celera Diagnostics

NGEN CFTR ASRs*

Description:... systems. The NGEN product line includes reagents for the detection of mutations associated with cystic fibrosis, thrombosis, and hereditary ... Nanogen offers reagents for the detection of the 23 ACOG/ACMG recommended mutations associated with the CFTR gene. Laboratories may use the reagents to create ...
Company:Nanogen, Inc.

MGB Alert Norovirus 1 & 2 ASR*

Description:... 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 ...
Company:Nanogen, Inc.

MGB Alert HHV-6 ASR*

Description:... 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 ...
Company:Nanogen, Inc.

MGB Alert Mycoplasma pneumoniae ASR*

Description:... 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 ...
Company:Nanogen, Inc.

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Mutations in Medical Definition

Atransferrinemia

... 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 ...

Familial isolated vitamin e deficiency

... 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. ...

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 ...
Mutations in Biological News

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." When mutations in tyrosyl-tRNA synthetase were linked to ... debated whether problems arose because the mutations interfered with tRNA synthetase's normal ...

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Mutations in Biological Technology

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

... measurement of KRAS, BRAF, EGFR and other key mutations for predicting patient response to targeted ... researchers and clinicians to measure the key mutations DxS Scorpion probes target directly from blood." "Combining the ability to pull high-quality mutations from a simple blood draw with the unparalleled ...

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

... NextGen sequencing technology to detect all mutations in any of the 37 mitochondrial DNA genes. The ... and accurate risk counseling. Disease from mutations in mitochondrial DNA is now thought to be common ... processes, including growth, and metabolism. mutations in mitochondrial genes may decrease energy ...

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

... variation of the standard PCR technology enriches mutations in samples where normal DNA predominates. ... demonstrated its effectiveness in enriching for mutations in cancer-related genes in samples where DNA ... solution to high sensitivity detection of somatic mutations that are key to cancer biology." Cold-PCR ...

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

... Transgenomic. "Scanning to identify presence of mutations limits the amount of DNA sequencing required, ... some samples incorrectly scored as homozygous mutations by DNA sequencing were shown by Surveyor Nuclease ... due to the size of the genes and the variety of mutations involved. Transgenomic CEO Craig Tuttle ...

Unraveling the genetic picture of lung cancer

... seeking possible cancer genes elucidated the mutations and the genetic pathways activated in the most ... any previous study, allowed scientists to find mutations associated with sub-types of the lung cancer ... approach enabled the BCM researchers to identify mutations with unprecedented sensitivity. As a result, ...

Large-scale genetic study sheds new light on lung cancer

... in the disease, and described patterns of genetic mutations among different subgroups of lung cancer ... Next, they sequenced the DNA to look for mutations in 623 genes with known or potential ... are: Neurofibromatosis 1 (NF1). mutations in this gene have previously been shown to cause ...

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Mutations in Biological Products

Random DNA mutagenesis Service from Yorkshire Bioscience Ltd

Description:... We can introduce random mutations to the gene supplied by a customer. Mutated DNA ... can be set to a desired value within 1-20 mutations per kb. Number of clones 106-108. mutations can be restricted to a desired region of a gene. ...
Company:Yorkshire Bioscience Ltd

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

Description:... 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 ... In cells where cytochrome c oxidase assembly is incomplete because of mutations in genes for structural subunits of the enzyme SURF1 is significantly ...
Company:MitoScience 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) ... with expression from pETBlue and pTriEx vectors. The trxB and gor mutations are selectable on kanamycin and tetracycline, respectively; therefore, ...
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) ... with expression from pETBlue and pTriEx vectors. The trxB and gor mutations are selectable on kanamycin and tetracycline, respectively; therefore, ...
Company:Novagen

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

Description:... 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 ...
Company:GeneTex

Mouse Anti-Presenilin 2 Monoclonal Antibody, Unconjugated, Clone 198C679.2.1 from GeneTex

Description:... 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 ...
Company:GeneTex

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Mutations in Biological Definition

Cancer

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

Genetic code

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

DNA

... 8 Single-stranded DNA (ssDNA) and repair of mutations 9 The history of DNA research 9.1 ... of the original, unless a mutation occurs; mutations are simply chemical imperfections in this ... chain is trimmed, or added to; all other basic mutations can be described as combinations of these ...

Evolution

... pinned much of this variation onto mutations. mutations are permanent, transmissible changes to the ... or hypermutation . In multicellular organisms, mutations can be subdivided into germline mutations, which can be passed on to progeny and somatic mutations , which (when accidental) often lead to the ...

Gene

... gene 2.2 Expression of molecular genes 2.3 mutations and evolution 3 History 4 See also ... spontaneous errors (e.g. in DNA replication ) mutations in the sequence of a gene may arise. Once ... more "material entity" than the first one. mutations and evolution Just as there are many factors ...

Genetic code

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

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Mutations in Biological Dictionary

Silent Mutation

... Silent mutations are DNA mutations that do not result in a change to the amino acid ... mutation ; however, ... In biology, mutations are changes to the nucleotide sequence of the ...

Point Mutation

... a single base pair. One can categorize point mutations as follows: 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 ...

Penetrance

... penetrance Mutations: Identifying germline mutations and somatic mutations is important for our understanding of the ... Genetic Predisposition: Identifying germline mutations and somatic ...

Nonsense Mutation

... usually nonfunctional ... 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 ... Wikipedia, the free encyclopedia ... Nonsense mutations . ... Nonsense mutation definition - Medical ...

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 ...... The Wellcome Trust offers a brief overview of mutations and polymorphisms. ... In biology, mutation ...

Monogenic

... for about 1 to 2 percent of all cases of ... mutations in monogenic diabetes reduce the ... Types of ... polygenic inheritance and the effect ... mutations in monogenic diabetes reduce. the body's ... familial spontaneous pneumothorax have mutations in the ... Pronunciation of monogenic . ...

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