Nonsense-Mediated Decay of ash1 Nonsense Transcripts in Saccharomyces cerevisiae | Genetics
The nonsense mutation at site B causes a mislocalization phenotype similar to nonsense mutations at site A, but the mutation at ... Like the mutations at site A, mutations at sites B and C cause increased mRNA abundance relative to wild type in Nmd+ strains, ... The ash1-C-ns1 mutation differed dramatically from the nonsense mutations at sites A and B. Although total ash1-C-ns1 mRNA ... Mutations near the normal stop codon can be insensitive to NMD. For example, the HIS4 frameshift mutation his4-713, which is ...http://www.genetics.org/content/180/3/1391.long
Patente US5538871 - In situ polymerase chain reaction - Google Patentes
Detection of allele-specific mutations by allele-specific in situ reverse transcriptase polymerase chain reaction. ... involve somatic point mutations and chromosomal rearrangements which can be distinguished from the parental sequence if ... or to allele-specific amplification such as is required for PCR detection of many oncogenic somatic mutations. Now that single ... method to differentiate among neighboring cells in a histochemical or cytochemical preparation with respect to somatic mutation ...http://www.google.es/patents/US5538871
Nonsense Mutations in hERG Cause a Decrease in Mutant mRNA Transcripts by Nonsense-Mediated mRNA Decay in Human Long-QT...
... of LQT2 mutations in the pore region are nonsense or frameshift mutations, whereas ,40% of the mutations in nonpore regions are ... Because PTC mutations account for ,30% of LQT2 mutations, the RNA surveillance imposed by NMD is of fundamental importance in ... The R1014X mutation causes premature termination of the hERG channel protein. This mutation has previously been studied at the ... Class 3 mutations result in abnormal gating and/or kinetics, and class 4 mutations result in altered or absent channel ...http://circ.ahajournals.org/content/116/1/17
Detection of TP53 gene mutation in human meningiomas : A study using immunohistochemistry, polymerase chain reaction/single...
Detection of TP53 gene mutation in human meningiomas: A study using immunohistochemistry, polymerase chain reaction/single- ...http://uu.diva-portal.org/smash/record.jsf?pid=diva2:79869
Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open...
Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open ... Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open ... NAS is induced because the nonsense mutation alters a splicing signal, such as inactivating an exonic splicing enhancer. ...http://edoc.unibas.ch/1615/
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient | BMC Neurology | Full...
The presence of this mutation was confirmed using capillary sequencing (Figure 1C). This TTC19 mutation was identified in a ... Therefore, the actual frequency of the mutation is even lower, which does not rule out the possibility that the mutation is a ... Notably, all these mutations are nonsense mutations. Clinical symptoms were mild compared with the symptoms from previously ... One of these mutations was a homozygous nonsense mutation of the TTC19 gene (GenBank:NM_017775:c.829C , T, p.Q277*), which was ...https://bmcneurol.biomedcentral.com/articles/10.1186/1471-2377-14-5
Mutations of the p53 gene as a predictor of poor prognosis in patients with non-small-cell lung cancer. - Semantic Scholar
RESULTS Fifty-one (43%) of 120 tumor specimens showed p53 mutations. Overall, the p53 mutations did not correlate with sex, age ... PURPOSE Our purpose was to investigate the relationship between the presence of p53 gene mutations and survival of patients ... Univariate and multivariate analyses were performed to assess the association between p53 mutations and the survival of the ... Univariate analysis revealed that the patients with p53 mutations survived for a significantly shorter period of time after ...https://www.semanticscholar.org/paper/Mutations-of-the-p53-gene-as-a-predictor-of-poor-p-Mitsudomi-Oyama/d2e64e6bc1775dbfef2176270271e9ec1907fd42
Gene Mutations of K-ras in Gallbladder Mucosae and Gallbladder Carcinoma With an Anomalous Junction of the Pancreaticobiliary...
Home » Gene Mutations of K-ras in Gallbladder Mucosae and Gallbladder Carcinoma With an Anomalous Junction of the ... Gene Mutations of K-ras in Gallbladder Mucosae and Gallbladder Carcinoma With an Anomalous Junction of the Pancreaticobiliary ... CONCLUSION: These results suggest that the specific K-ras mutation in codon 12 (GGT to GAT) may contribute to the early stage ... Prevalences of K-ras mutation in hyperplasia and carcinoma with AJPBD were greater than those without AJPBD (p < 0.05). The ...http://connection.ebscohost.com/c/articles/16450436/gene-mutations-k-ras-gallbladder-mucosae-gallbladder-carcinoma-anomalous-junction-pancreaticobiliary-duct
Mutations of p53 gene can be detected in the plasma of patients with large bowel carcinoma. | Journal of Clinical Pathology
RESULTS: p53 gene mutations were not found in the control specimens. They were found in both the primary tumour and the plasma ... The others were Dukes' C and Dukes' D. CONCLUSIONS: p53 gene mutations can be detected in the plasma of some patients with ... Mutations of p53 gene can be detected in the plasma of patients with large bowel carcinoma. ... Mutations of p53 gene can be detected in the plasma of patients with large bowel carcinoma. ...http://jcp.bmj.com/content/51/8/611
Frameshift mutations at coding mononucleotide repeat microsatellites in endometrial carcinoma with microsatellite instability |...
The mutations frequently were distributed heterogeneously throughout the tumors. Overall, frameshift mutations at i or more of ... The mutations frequently were distributed heterogeneously throughout the tumors. Overall, frameshift mutations at i or more of ... Frameshift mutations were detected more frequently in BAX (11 of 24 MI positive (+) tumors; 45.8%) than in TGF-β RII (0 of 24 ... Frameshift mutations were detected more frequently in BAX (11 of 24 MI positive (+) tumors; 45.8%) than in TGF-β RII (0 of 24 ...https://iris.uniroma1.it/handle/11573/78555
mutation - Wiktionary
"mutation" in le Trésor de la langue française informatisé (The Digitized Treasury of the French Language). ... Names for a group: A flute or mutation of thrushes.. *2013, Jason Sacher, A Compendium of Collective Nouns: From an Armory of ... A Mutation of Thrushes. The authors of the books of venery were not predicting Darwin with this term, but taking a cue from a ... These rarities may be new mutations, or they can be existing ones that are neutral-or are even selected against-in a wild ...https://en.wiktionary.org/wiki/mutation
Suppressor mutation - Wikipedia
A suppressor mutation is a second mutation that alleviates or reverts the phenotypic effects of an already existing mutation in ... suppression relieves the effects of a mutation in one gene by a mutation somewhere else within the genome. The second mutation ... Intragenic suppression results from suppressor mutations that occur in the same gene as the original mutation. In a classic ... Genetic suppression therefore restores the phenotype seen prior to the original background mutation. Suppressor mutations ...https://en.wikipedia.org/wiki/Suppressor_mutation
Nonsense mutation - Wikipedia
A point-nonsense mutation differs from a missense mutation, which is a point mutation where a single nucleotide is changed to ... In genetics, a point-nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a ... Selection of notable mutations, ordered in a standard table of the genetic code of amino acids. point-nonsense mutations are ... For example, the effect of a point-nonsense mutation depends on the proximity of the point-nonsense mutation to the original ...https://en.wikipedia.org/wiki/Nonsense_mutation
Change in the genetic structure (DNA); it may occur spontaneously or be induced (e.g., by radiation, drugs, or certain mutagenic chemicals ...https://labtestsonline.org/glossary/mutation
... (also known as 'i-umlaut') is the raising and fronting of a root vowel in anticipation of 'i' or 'y' s ... I-Mutation. I-MUTATION (also known as 'i-umlaut') is the raising and fronting of a root vowel in anticipation of 'i' or 'y' ... 6. I-mutation turns up in an adjective formed from a noun by adding -ish in at least one important case: English (Old English ... I-mutation is caused by the very human habit of laziness: taking the shortest distance between two points. The plural of man in ...https://www.etymonline.com/columns/post/imutate
... Chesley Huskins huskincg at brevard.edu Wed Dec 1 13:51:55 EST 1999 *Previous message: mutation ... I have recently seen a news story that suggests a genetic mutation in females may be responsible in causing them to be more ...http://www.bio.net/bionet/mm/biochrom/1999-December/002197.html
... gene mutations are associated with bone marrow disorders called myeloproliferative neoplasms (MPNs) caused by the production of ... The JAK2 mutation test may be used, along with other tests such as CALR mutation and MPL mutation testing, to help diagnose ... have a JAK2 mutation, most for the JAK2 V617F mutation. Additionally, the mutation is also rarely found in people with chronic ... The primary JAK2 test is JAK2 V617F, named for a mutation at a specific location in the JAK2 gene. JAK2 V617F mutation is ...https://labtestsonline.org/tests/jak2-mutation
mutation | genetics | Britannica.com
mutation: An alteration in the genetic material (the genome) of a cell of a living organism or of a virus that is more or less ... Mutations in egg or sperm cells (germinal mutations) may result in an individual offspring all of whose cells carry the ... Mutations are of several types. Changes within genes are called point mutations. The simplest kinds are changes to single base ... mutation - Children's Encyclopedia (Ages 8-11). A mutation is a mistake or a change in a living thing's DNA. DNA, or ...https://www.britannica.com/science/mutation-genetics
Evolution - A-Z - Mutation
Mutation. A mutation is any change occurring in the message that a gene carries. Mutations mainly arise as copy errors when DNA ... Mutations can occur at single base level or at chromosomal level. The effects of mutation can occasionally be very dramatic: ... Darwinian evolution requires a constant supply of variation: much of it is supplied by mutation, and a mutation-selection ... The first major geneticist to study mutation was H.J. Muller, who demonstrated it can be induced by X-rays. He also recognized ...http://www.blackwellpublishing.com/ridley/a-z/Mutation.asp
Mutation Search | GenomeWeb
A clinician advocates genetic testing to identify asymptomatic mutation carriers who are at risk for several cancers associated ... has written extensively on genetic testing for mutations related to multiple endocrine neoplasia type 1 - a rare, autosomal- ...https://www.genomeweb.com/archive/mutation-search
5. Mutations affect and are affected by many genes.. The mutation concept is no longer as simple as it once was. Instead of a ... 1. Mutations are random, not directed.. 'It remains true to say that we know of no way other than random mutation by which new ... 2. Mutations are rare, not common.. 'It is probably fair to estimate the frequency of a majority of mutations in higher ... 4. The Net Effect of All Mutations is Harmful. Even if the mutations are not harmful enough to cause their carriers to be ...http://www.angelfire.com/oh/jude3and4homepage/mutations.html
EGFR Mutation Testing
... mutation testing is used, when EGFR mutation testing is ordered, and what the results of EGFR mutation testing might mean ... An EGFR mutation test may be ordered by itself or as part of a series of tests that also includes KRAS and/or ALK mutation ... If an activating mutation is present, as detected with an EGFR mutation test, then the drugs directed against EGFR are much ... If KRAS mutation testing is performed and indicates that the tumor lacks a KRAS mutation, then the affected person is likely to ...https://labtestsonline.org/tests/egfr-mutation-testing
Reverse Mutation | Encyclopedia.com
The production by further mutation  of a premutation gene  from a mutant gene. This reverse mutation restores the ability ... Strictly, reversion is the correction of a mutation, i.e. ... reverse mutation (reversion) The production by further mutation ... reverse mutation (reversion) The production by further mutation of a premutation gene from a mutant gene. This reverse mutation ... the term is applied also to a mutation at another site that masks or suppresses the effect of the first mutation (in fact such ...https://www.encyclopedia.com/plants-and-animals/zoology-and-veterinary-medicine/zoology-general/reverse-mutation
memetic mutation - Everything2.com
... a memetic mutation is a process by which one concept transforms into another. Analogies themselves serve ... ... This is analogous to a crossover mutation of DNA, where two strands of DNA each break into two pieces then each piece of one ... Following the analogy between memes and genes, a memetic mutation is a process by which one concept transforms into another. ...https://everything2.com/title/memetic+mutation