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*  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
*  Two Molecular Pathways (NMD and ERAD) Contribute to a Genetic Epilepsy Associated with the GABAA Receptor GABRA1 PTC Mutation,...
The α1 subunit mutation, 975delC, S326fs328X, is a PTC-generating mutation and activated NMD. However, NMD is not complete; it ... PTC mutations are responsible for approximately one-third of inherited disorders including GABR subunit gene mutation ... 1A,Bc). The α1 subunit mutation, A322D, associated with juvenile myoclonic epilepsy, is a missense mutation four residues ... The α1(A322D) subunit mutation is a missense mutation, and the mutant mRNAs are translated and produce an unstable mutant ...
http://www.jneurosci.org/content/29/9/2833
*  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
*  hMLH1 and hMSH2 expression and BAX frameshift mutations in ovarian cancer cell lines and tumors. : Carcinogenesis - oi
The frameshift mutation was associated to a low, almost undetectable, level of BAX protein which was instead present at much ... The possible presence of frameshift mutations in the BAX gene, which contains a sequence of eight contiguous guanines in its ... The possible presence of frameshift mutations in the BAX gene, which contains a sequence of eight contiguous guanines... ... The results indicate that frameshift mutations in the BAX gene, possibly arising as a consequence of microsatellite instability ...
http://oxfordindex.oup.com/view/10.1093/carcin/19.4.691
*  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
*  Inheritance Patterns - Autosomal Dominant Inheritance - Chromosome, Protein, and Disease - JRank Articles
Most cases are new mutations, not inherited. Huntington's Disease. 4, dominant. huntingtin, function unknown. Expansion of a ... and new mutations account for many cases of these conditions. Exceptions include late-onset disorders such as Huntington's ...
http://medicine.jrank.org/pages/2453/Inheritance-Patterns-Autosomal-Dominant-Inheritance.html
*  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
*  Three Different ABCA4 Mutations in the Same Large Consanguineous Family Affected With Autosomal Recessive Cone-Rod Dystrophy:...
Three Different ABCA4 Mutations in the Same Large Consanguineous Family Affected With Autosomal Recessive Cone-Rod Dystrophy: ... Three Different ABCA4 Mutations in the Same Large Consanguineous Family Affected With Autosomal Recessive Cone-Rod Dystrophy: ... D. Ducroq, S. Shalev, A. Habib, A. Munnich, J. Kaplan, J.-M. Rozet; Three Different ABCA4 Mutations in the Same Large ... This hypothesis was confirmed by the identification of three distinct mutations leading to either cone-rod dystrophy or ...
http://iovs.arvojournals.org/article.aspx?articleid=2391561
*  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
*  Retrotransposon activation contributes to neurodegeneration in a Drosophila TDP-43 model of ALS. - PubMed - NCBI
PLoS Genet. 2017 Mar 16;13(3):e1006635. doi: 10.1371/journal.pgen.1006635. eCollection 2017 Mar. Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
https://www.ncbi.nlm.nih.gov/pubmed/28301478
*  Lessons from a Tarantula | Harvard Medical School
Most of these mutations are in two genes, one of which codes for myosin, a protein crucial to muscle contraction. These myosin ... "She walked up to me and said, 'We need to work together to understand how different mutations affect the myosin motif.'" ... "We'd very much like to work with Raúl to solve these structures using human specimens, with and without HCM mutations," Seidman ... as she discovered many of the mutations we were mapping in the myosin model in our poster," he said. " ...
https://hms.harvard.edu/news/lessons-tarantula?utm_content=buffer5611e&utm_medium=social&utm_source=twitter.com&utm_campaign=buffer
*  Mutation
These mutations can be passed down genetically and either be lost or become fixed. Since mutation usually affects a single ... To connect the idea of mutations back to our discussion of DNA and proteins, here are some examples of how a mutation in the ... Finally, a common mutation in humans causes red blood cells to be shaped in a sickle pattern as shown above on the upper left. ... A mutation in these garden moss roses (shown in the left) has caused some of the flowers to grow orange rather than yellow. ...
http://web.mit.edu/saraht/Public/8.592FinalProject/Population_genetics/Mutation.html
*  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 ... From Middle French mutation, from Old French mutacion, borrowed from Latin mutatio, mutationem. ... A Mutation of Thrushes. The authors of the books of venery were not predicting Darwin with this term, but taking a cue from a ...
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.[1] Suppressor mutations ...
https://en.wikipedia.org/wiki/Suppressor_mutation
*  Germline mutation - Wikipedia
A germline mutation can also occur due to exogenous factors. Similar to somatic mutations, germline mutations can be caused by ... Germline mutation is distinct from somatic mutation. Germline mutations can be caused by a variety of endogenous (internal) and ... Patients with this mutation are also at a risk for Li-Fraumeni syndrome.[16] Other examples include mutations in the BRCA1 and ... These mutations can occur in germ cells, allowing them to be heritable.[15] Individuals who inherit germline mutations in TP53 ...
https://en.wikipedia.org/wiki/Germline_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.[2] 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
*  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
*  mutation analysis
EMBL-EBI, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK +44 (0)1223 49 44 44. Copyright © EMBL-EBI 2013 , EBI is an outstation of the European Molecular Biology Laboratory , Privacy , Cookies , Terms of use. ...
https://www.ebi.ac.uk/ols/ontologies/mi/terms?obo_id=MI%3A0074
*  I-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
*  mutation
... 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