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Exons in Medical News

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

... codons 12 and 13 of KRAS , the Quest Diagnostics test detects mutations in codons 12, 13 and 61 of both the KRAS and NRAS genes and mutations in exons 11, 12, and 15 of the BRAF gene, in a sequential reflex manner. (Note to journalists: For more information on the interplay of genes and pathw...

New oncogene gives valuable insight into hepatocellular tumors in humans

... fibrolamellar carcinomas and intra-hepatic cholangiocarcinomas. 100 tumours from different organs were also collected. To search for mutations, GP130 exons were screened in all samples and the function of 7 different mutants was analysed in HEP3B. A somatic mutation was identified in 65% of the IHCA in...

First Treatment for Muscular Dystrophy in Sight: Scientists Harness Exon-Skipping in Large Animal to Successfully Treat Duchenne Muscular Dystrophy

...NA band-aid to skip over the parts of the gene that block the effective creation of dystrophin. Because the gene's mutation could affect any of its 79 exons and sometimes more than one single exon at a time, scientists employed a "cocktail" of antisense called morpholinos to extend the range of t...

Master molecular switch may prevent the spread of cancer cells to distant sites in the body

... ESRP1 and ESRP2. These proteins are able to change how RNAs that are produced from genes are spliced together. This is achieved by splicing different exons -- the sequence of DNA that codes information for protein synthesis -- together in different ways so that there can be more than one messenger RNA (mR...

First treatment for muscular dystrophy in sight: Scientists successfully harness exon-skipping

...NA band-aid to skip over the parts of the gene that block the effective creation of dystrophin. Because the gene's mutation could affect any of its 79 exons and sometimes more than one single exon at a time, scientists employed a "cocktail" of antisense called morpholinos to extend the range of this applic...

Research Shows Why Statins Don't Work for Everyone

... this difference is "strongly related to the LDL-lowering effect of statins," Krauss said. At the heart of the process are protein fragments called exons that are spliced together to produce an active protein, he explained. Statins block LDL cholesterol production by binding to a particular exon when th...

Alternative Splicing in Neuronal Development

... during neuronal development. Alternative splicing refers to the processing of an RNA transcript into different mRNA molecules by including some exons and excluding others. Specific cell types often have signature patterns of alternative splicing. Polypyrimidine-tract binding protein (PTB) is...
Exons in Medical Technology

More Gene Mutations Linked to Autism Risk

...re with gene function, which can disrupt the production of proteins necessary for normal neurological development. "We focused on changes in the exons of DNA--protein-coding areas in which deletions or duplications are more likely to directly disrupt biological functions," said study leader Hakon Hak...
Exons in Medical Products

hGH ELISA

Description:... somatotropin) is a 22 kD, 191 amino acid, polypeptide hormone synthesized and secreted by cells of the anterior pituitary. The hGH gene contains five exons and is the best characterized of five members of a gene family. The hGH ELISA is used to quantitatively measure the expression of hGH released into th...
Company:Roche Diagnostics
Exons in Biological News

Genrate: a generative model that finds and scores new genes and exons in genomic microarray data

Abstract : Recently, researchers have made some progress in using microarrays to validate predicted exons in genome sequence and find new gene structures. However, current methods rely on separately making threshold-based decisions on intensity of expression, similarity of expression profiles, and ...

Further gene mutations linked to autism risk

...stingly, key variants on these genes were passed down in some, but not all, of the affected individuals in families. "We focused on changes in the exons of DNAprotein-coding areas in which deletions or duplications are more likely to directly disrupt biological functions," said study leader Hakon Hakon...

DNA template could explain evolutionary shifts

...HOUSTON (June 21, 2009) Rearrangements of all sizes in genomes, genes and exons can result from a glitch in DNA copying that occurs when the process stalls...n or even triplications of individual genes or the rearrangements of single exons (the coding region of genes). "This phenomenon occurs throughout the ge...

New data suggest 'jumping genes' play a significant role in gene regulatory networks

...ve selection during most of mammalian evolution," Haussler said. "We believe that this five percent is, therefore, likely to be functional." Coding exons and structural RNA genes stand out because of their distinctive pattern of base substitutions and "indels"--the insertions and deletions of nucleic ac...

New computational technique allows comparison of whole genomes as easily as whole books

... wanted a method that would compare all regions of the genome, not just the exons - that is, the DNA transcribed into mRNA, the blueprint for proteins. exons make up only 1 percent of the human genome, with the remainder being non-co...

CSHL scientists clarify editing error underlying genetic neurodegenerative disease

... functional. Once the introns are removed, the remaining segments -- called exons -- are pasted together, forming a mature messenger RNA transcript. In an...nedited RNA molecule, the boundaries between an intron and its two flanking exons are called splice sites. Such sites are composed of short sequences of RNA...

Human genes sing different tunes in different tissues

... or DNA sequences that code for amino acids, the building blocks of proteins. A single gene can produce multiple protein sequences, depending on which exons are included in the mRNA transcript, which carries instructions to the cell's protein-building machinery. Two different forms of the same protein, ...

RNA interference therapy heals growth deficiency disorder in a live animal

...coded in a series of special segments called exons. The instructions in the exons are first copied onto a length of special RNA, called messenger-RNA. The me...splicing error: It is made by combining the segments coded by the first two exons and the last two exons, mistakenly skipping the third exon. A normal perso...

Microarray sequence capture speeds large-scale resequencing of targeted genomic regions

...and more cost-effective than the multiplex PCR that was previously used to prepare genomic samples for sequencing. In one experiment, more than 6,700 exons (the part of the genetic code that together form genes), were enriched and analyzed, as well as contiguous genomic regions of up to 5 million bases. ...

Human genetic 'deserts' are teeming with significant life

...zerland. “We found that the vast majority of the protein coding genes we studied utilised often in a tissue-specific manner previously unknown set of exons [the regions of DNA within a gene that are transcribed to messenger RNA] outside the current boundaries of the annotated genes ”, Professor Reymond w...
Exons in Biological Technology

Jivan Focuses on Solutions for Transcriptome Sequencing

...de mRNA Capture Arrays for targeted sequencing of genomes, gene families and therapeutic areas. By using Jivan's database of mRNA sequences, including exons and exon junctions, Jivan can ensure the capture of all mRNA sequences of each gene of interest, including wildtype transcripts and splice variants. F...

AMT Accesses Technology for Treatment of Duchenne Muscular Dystrophy

...nscript of the complete gene sequence, but only of the exons, which are the sections of the gene that code for a portion of the protein. If one of the exons contains an error, this process may be halted, and the production of the full-length dystrophin protein cannot take place. However, when the faulty ex...

In vivo visualization of alternative splicing

... The splicing of let-2 changes during the lifetime of the worm: Embryos and early larvae express exon 9, while adult worms express exon 10. By linking exons 9 and 10 with differently colored fluorescent proteins (green and red, respectively). Drs. Kuroyanagi & Hagiwara's team was able to visually monitor...

SNPs Powerful Tools for Association Studies

...s their functional importance. Intronic SNPs Single nucleotide polymorphisms that occur in noncoding regions of a gene that separate the exons (i.e., introns). Introns are transcribed into RNA, but are not translated into protein. Linkage map See genetic map Meiosis ...

Heteroduplex Analysis Using the DCode System

...gene. Method The test samples consist of wild-type and mutant DNA samples from the cystic fibrosis gene exons 7 and 10. The heterozygous mutations from exon 7 were 1154insTC, two base insertion (+TC) and ΔF311, three base deletion (-...

Detection of Mutations in the CYP21 Gene Using the DCode System

...ers. The GC-density of almost all CYP21 exons are very high requiring long GC-clamps to obtain ... In order to obtain mutant control samples for all exons it was necessary to introduce mutations...s The results of the DGGE analysis of exons 2, 5, 6, and 7 are presented in Figure ...

TTGE on the DCode System

...zed on the same TTGE gel. This is illustrated in Figure 3, where exons 59 and 11 of the TP53 gene are analyzed. Using two different den...ring conditions and the same temperature ramp allowed all of the exons to be analyzed at one time. These examples demonstrate that the TT...

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

...To identify mutations in each of the 13 exons of the PAH gene, Guldberg and coworkers (1993) rep...heir relatives for mutations in the PAH exons and intron/exon boundaries we further refined ... multiplex amplification reaction of the PAH exons and their intron-exon boundaries. GC-cla...

Detection of p53 Gene in Breast Cancer by Denaturing Gradient Gel Electrophoresis and the DCode System

...ncentration of denaturant to be used for parallel gradient gels was determined from the perpendicular gradient gel analysis. All exons separated and had a melting transition using a 25 to 65% gradient. Therefore a gradient of 45 to 60% was used for parallel gel analysis. ...

Rapid detection of genomic duplications and deletions using the Agilent 2100 bioanalyzer

...ne all 79 exons, but simply compare probes for exons within the potential rearrangement to those outs...hin the deleted/duplicated region, and several exons outside. Changes in peak height correspond to ...somal probes, and the normalized ratios of the exons within the rearrangement were compared with thos...
Exons in Biological Products

SpliceArray Service from ExonHit Therapeutics Inc.

Description:...be design and customized analysis with Agilents robust microarray platform. The patented array design monitors the expression of alternatively spliced exons that empowers you to investigate disease-associated isoforms at a resolution previously unattainable by microarrays. G-Protein Coupled Receptor (GPCR)...
Company:ExonHit Therapeutics Inc.
Exons in Biological Definition

Alternative splicing

...from the DNA , it includes several introns and exons . In nematodes , the mean is 4-5 exons and introns; in the fruit fly Drosophila there are more than 100 introns and exons in one transcribed pre-mRNA. But what is an intron...

Exon

... exons are the regions of DNA within a gene that are...ortion of the complete protein , however, not all exons in a given gene will end up in the final protein d...ernative splicing . Some mRNA transcripts have no exons whatsoever and thus are sometimes referred to as ...

Gene

...nscription. The RNA is often edited before its translation into a protein. Eukaryotic cells splice the transcripts of a gene, by keeping the exons and removing the introns . So, the DNA strand needs to be in an exon to be expressed. Because of the complexity of the splicing process, one trans...

Intron

...rom the cell nucleus . Introns exist mainly (but not only) in eukaryotic cells . The regions of a gene that remain in the spliced mRNA are called exons . Introns sometimes allow for alternative splicing of a gene, so that several different proteins that share some sections in common can be produc...

Lipase

...ciency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6. Ann Genet. 44(1):25-32. Girod, A., C. E. Wobus, Z. Zadori, M. Ried, K. Leike, P. Tijssen, J. A. Kleinschmidt, and M. Hallek. 2002. The VP1 ...

Spliceosome

...tides ). There are specific 5' and 3' sites on the pre-mRNA that the spliceosome recognises. The area between these locations is removed, and the two exons are spliced together. Alternative splicing Alternative splicing (the re-combination of different introns ) is a major source of genetic ...

Splicing (genetics)

... gene often contains altering sequences known as exons (expressed codons) and introns (interrupting co...ed pre-mRNA that is composed of both introns and exons (see transcription ). Pre-mRNA has to be splice...I EEEEEEEEEE IIII EEEEEEEEEE XXXX DNA with exons and introns ↓transcription&darr...
Exons in Biological Dictionary

Exons

Article on regions in genes that are expressed in mature mRNA and in proteins. ... Statistical features of human exons and their flanking regions" ... Exons and Introns | World of Genetics. Exons and Introns summary with 2 pages of encyclopedia entries, research information, and m...

Trans-splicing

...al form of RNA processing in eukaryotes where exons from two different primary RNA transcripts are jo...al form of RNA processing in eukaryotes where exons from two different primary RNA transcripts are jo...ans - splicing molecule containing human tau exons 10 to 13 ... In molecular biology, splicing ...

Splicing

... In molecular biology, splicing is a modification of an RNA after transcription, in which introns are removed and exons are joined. This is needed for the typical eukaryotic messenger RNA before it can be used to produce a... On Wikipedia, Splice may refer to Wiki...

Self-splicing

... In molecular biology, splicing is a modification of an RNA after transcription, in which introns are removed and exons are joined. This is needed for the typical eukaryotic messenger RNA before it can be used to produce a... Tom Cech (right) discovered self - spli...

RNA Splicing

...transcription, in which introns are removed and exons are joined. This is needed for the typical eukary... Alternative splicing is a process by which the exons of the RNA produced by transcription of a ge...post-transcriptional ... During RNA splicing , exons are either retained in the mRNA or targeted for ....

Reading frame

...f DNA or RNA that can be ... It uses material from the Wikipedia article "Open reading frame . ... The primary tool for locating protein-coding exons is the open reading frame . Many programs determine open reading frames , among them Translate on the ExPasy ... Find a reliable & profe...

Open reading frame

...om the ATG to the Stop ... The primary tool for locating protein-coding exons is the open reading frame . Many programs determine open reading ...g frame 34 ... the only significant open reading frame located in exons 1 ... Complete information for C9orf41 gene (protein-coding), chromo...

Introns

... that is not translated into ... Introns and exons are interspersed throughout a gene, although ther...ing sequence between two coding sequences ... exons and Introns | World of Genetics. exons and Introns summary with 2 pages of encyclopedia...

Intron

...called splicing... intron n. A segment of a gene situated between exons that is removed before translation of messenger RNA and does not functio...ncyclopedia entries, essays, summaries, research information, and more. ... exons and introns refer to specific nucleotide base ... Offering informa...

Intragenic

...ONS: The SHOX intragenic microsatellite might be a useful molecular ... Intragenic deletions and duplications that affect single or multiple exons are ... We determined the frequency of intragenic deletions and duplications in a select ... Details on Gene Mutation, Intragenic , Intergenic,...
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