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*  EGFR mutant-specific immunohistochemistry has high specificity and sensitivity for detecting targeted activating EGFR mutations...
RESULTS: Of seven cases with L858R point mutation, six were positive by immunohistochemistry (IHC). There were three false ... RESULTS: Of seven cases with L858R point mutation, six were positive by immunohistochemistry (IHC). There were three false ... and exon 21 L858R point mutation (c.2573T,G, p.Leu858Arg) were assessed in a cohort of 204 resected early stage node negative ... and exon 21 L858R point mutation (c.2573T,G, p.Leu858Arg) were assessed in a cohort of 204 resected early stage node negative ...
https://www.garvan.org.au/research/publications/11891
*  Point mutation - Wikipedia
Point mutations may arise from spontaneous mutations that occur during DNA replication. The rate of mutation may be increased ... Point mutations in multiple tumor suppressor proteins cause cancer. For instance, point mutations in Adenomatous Polyposis Coli ... mutation in the deoxyribonucleic acid (DNA) that occurs at one point. Point mutations usually take place during DNA replication ... a mutation called a frameshift mutation). Point mutations that occur in non-coding sequences are most often without ...
https://en.wikipedia.org/wiki/Point_mutation
*  mutation: Point Mutations | FactMonster
In a frameshift mutation, a nucleotide is added or ... mutation: Point Mutations mutation: Point Mutations. Enter your ... Occasionally a mutation can be offset by either another mutation on the same gene or on another gene that suppresses the effect ... For example, the inherited sickle cell disease is the result of a mutation that results in the substitution of the amino acid ... A single gene mutation may have many effects if the enzyme it controls is involved in several metabolic processes. ...
https://www.factmonster.com/encyclopedia/science/biology/genetics/mutation/point-mutations
*  Tissue P Systems with Point Mutation Rules | SpringerLink
Alhazov A., Freund R., Ivanov S., Verlan S. (2019) Tissue P Systems with Point Mutation Rules. In: Hinze T., Rozenberg G., ...
https://link.springer.com/chapter/10.1007%2F978-3-030-12797-8_4
*  The point mutation which made humanity
There was no point where mutation made humanity. But there was one where long mixed hybridization between Neaderthals and near ... The point mutation which made humanity. By Razib Khan , August 16, 2011 1:30 am ... Steve Hsu points me to a piece in The New Yorker on the science and personality of Svante Pääbo. The personality part includes ... Razib, fantastic points. and I agree with you about the bisexuality line. It seemed gratuitous, especially since the article ...
http://blogs.discovermagazine.com/gnxp/2011/08/the-point-mutation-which-made-humanity/
*  Familial Parkinson's point mutation abolishes multiple system atrophy prion replication | PNAS
Familial Parkinson's point mutation abolishes multiple system atrophy prion replication. Amanda L. Woerman, Sabeen A. Kazmi, ... Familial Parkinson's point mutation abolishes multiple system atrophy prion replication Message Subject (Your Name) has sent ... To investigate this hypothesis, we infected cell lines expressing PD-causing point mutations in α-synuclein with MSA patient ... This alteration is consistent with the inability of the A53T mutation to rescue the effects of the E46K mutation in vitro. ...
http://www.pnas.org/content/115/2/409.full
*  Multipyrene Tandem Probes for Point Mutations Detection in DNA
... Svetlana A. Kholodar, Darya S. Novopashina, Mariya I. ... N. N. Dioubankova, A. D. Malakhov, D. A. Stetsenko, and V. A. Korshun, "Detection of point mutations using pyrene-labeled DNA ...
https://www.hindawi.com/journals/jna/2013/860457/ref/
*  Structural Consequences of Point Mutations in Nine Human HPRT Variants | SpringerLink
Davidson B.L., Palella T.D., Fujimori S., Kelley W.N. (1989) Structural Consequences of Point Mutations in Nine Human HPRT ... Genetic evidence for identical mutations in two partially deficient subjects. J. Clin. Invest. In Press (1988).Google Scholar ...
https://link.springer.com/chapter/10.1007/978-1-4684-5673-8_22
*  SNV vs point mutation? - Biology Forum | Biology-Online Dictionary, Blog & Forum
My professor seems to distinguish an SNP from an SNV from a point mutation.. I seemed to think that an SNV and a point mutation ... SNV vs point mutation?. Discussion of all aspects of biological molecules, biochemical processes and laboratory procedures in ... So, what is the difference between a 'single nucleotide variant' (SNV) and a point mutation?. I can't seem to get it. ...
https://www.biology-online.org/biology-forum/viewtopic.php?t=36117
*  Mutational spectrometry: a general approach for hot-spot point mutations in selectable genes. | PNAS
Mutational spectrometry: a general approach for hot-spot point mutations in selectable genes.. P Keohavong and W G Thilly ... Mutational spectrometry: a general approach for hot-spot point mutations in selectable genes. ... Mutational spectrometry: a general approach for hot-spot point mutations in selectable genes. ... Mutational spectrometry: a general approach for hot-spot point mutations in selectable genes. ...
https://www.pnas.org/content/89/10/4623?ijkey=a87e29da64421ccd8b9527ecb2b8dee27ab57e12&keytype2=tf_ipsecsha
*  FLEx Inducible Point Mutation | Genetically Modified Models | genOway
FLEx: Inducible Point Mutation. TET On/Off Systems. IRES: Co-Expression Models. Quick Knockin: Rosa26 / Hprt. RMCE. ... FLEx: Inducible Point Mutation. FLEx technology allows scientists to induce the expression of a mutated gene or a reporter gene ... Access to time- and tissue-restricted point mutant models.. This technique has become the gold standard for the generation of ... With FLEx mice scientists can reproduce a particular pathology that is triggered by a mutation and that normally manifests in ...
https://www.genoway.com/technologies/flex-inducible-point-mutation.htm
*  Reversed Enantiopreference of an omega-Transaminase by a Single-Point Mutation
A single-point mutation, V328A, turn the (S)-selective omega-transaminase into an (R)-selective enzyme. This switch in ... Reversed Enantiopreference of an omega-Transaminase by a Single-Point Mutation. Svedendahl, Maria KTH, School of Biotechnology ... By combining these mutations, five enzyme variants are created. The performance of these variants is explored using a model ...
http://kth.diva-portal.org/smash/record.jsf?pid=diva2:374790
*  SomaticSniper: identification of somatic point mutations in whole genome sequencing data. - PubMed - NCBI
SomaticSniper: identification of somatic point mutations in whole genome sequencing data.. Larson DE1, Harris CC, Chen K, ... SomaticSniper: identification of somatic point mutations in whole genome sequencing data. Bioinformatics. 2012 Feb 1;28(3):311- ... SomaticSniper: identification of somatic point mutations in whole genome sequencing data. Bioinformatics. 2012 Feb 1;28(3):311- ... B) All three classes of validated mutations show no clear bias in association with the end of the sequenced read. ...
https://www.ncbi.nlm.nih.gov/pubmed/22155872
*  Aphid Thermal Tolerance Is Governed by a Point Mutation in Bacterial Symbionts
... Helen E Dunbar, Alex C. C Wilson,¤ Nicole R ... The first such mutation occurred in January 2001, and the same mutation recurred in October 2005 in a different line (Figure 3 ... and is about 1,000-fold higher than per-site estimates of mutation [22]. Furthermore a genome-wide screen of Buchnera mutations ... Under this scenario of mutation-selection balance, a frequency of 10% or more would imply an implausibly high mutation rate for ...
http://pubmedcentralcanada.ca/pmcc/articles/PMC1847839/?lang=en-ca
*  Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22.. ... or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated Dejerine-Sottas patients ... identified individual missense point mutations present in the heterozygous state. ...
http://www.biomedsearch.com/nih/Dejerine-Sottas-syndrome-associated-with/8275092.html
*  A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration. | Sigma-Aldrich
A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration.. [Satoshi Nojima ... In humans, mutations in Sema4A are thought to contribute to retinal degenerative diseases. Here we generate a series of knock- ... The F350C mutation results in abnormal localization of the Sema4A protein, leading to impaired endosomal sorting of molecules ... in mouse lines with corresponding mutations (D345H, F350C or R713Q) in the Sema4A gene and find that Sema4A(F350C) causes ...
https://www.sigmaaldrich.com/catalog/papers/23360997
*  A novel NGFB point mutation, a phenotype study of heterozygous patients | Journal of Neurology, Neurosurgery & Psychiatry
... type V having a point mutation in the Nerve growth factor beta (NGFB) gene. The homozygous genotype gives disabling symptoms. ... Conclusions: The NGFB mutation in its heterozygous form results in a milder disease than in homozygots with a variable clinical ... Methods: 26 patients heterozygous for the NGFB-mutation (12 men, mean age 50 (13-90) years) were examined clinically and ... without the mutation served as controls in the clinical examination part. 23 of the heterozygotes were examined ...
http://jnnp.bmj.com/content/early/2008/04/17/jnnp.2007.136051
*  A Single Point Mutation Controls the Cholesterol Dependence of Semliki Forest Virus Entry and Exit | JCB
A Single Point Mutation Controls the Cholesterol Dependence of Semliki Forest Virus Entry and Exit. Malini Vashishtha, Thomas ... The most surprising finding of this study is that a single point mutation in E1 substitutes for the specific cholesterol ... A Single Point Mutation Controls the Cholesterol Dependence of Semliki Forest Virus Entry and Exit ... Mutation Responsible for Cholesterol Independence. To define the mutation that confers srf cholesterol independence, we ...
http://jcb.rupress.org/content/140/1/91
*  Improved Adsorption of an Enterococcus faecalis Bacteriophage ΦEF24C with a Spontaneous Point Mutation
In conclusion, the therapeutic effects of phage ΦEF24C-P2 were improved by a point mutation in gene orf31, which encoded a tail ... Moreover, genomic sequence scanning revealed that phage ΦEF24C-P2 had a point mutation in orf31. Proteomic analysis showed that ...
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0026648
*  Action of Repeat-Induced Point Mutation on Both Strands of a Duplex and on Tandem Duplications of Various Sizes in Neurospora |...
... repeat-induced point mutation). Affected sequences are subjected to multiple GC-to-AT mutations. To explore the pattern in ... 1995 DNA methylation associated with repeat-induced point mutation in Neurospora crassa. Mol. Cell. Biol. 15: 5586-5597. ... Action of Repeat-Induced Point Mutation on Both Strands of a Duplex and on Tandem Duplications of Various Sizes in Neurospora. ... Action of Repeat-Induced Point Mutation on Both Strands of a Duplex and on Tandem Duplications of Various Sizes in Neurospora. ...
http://www.genetics.org/content/153/2/705?ijkey=157c0f1d97dde07af447952060f23eb64bd963d9&keytype2=tf_ipsecsha
*  Escape From Repeat-Induced Point Mutation of a Gene-Sized Duplication in Neurospora crassa Crosses That Are Heterozygous for a...
REPEAT-INDUCED point mutation (RIP) is a unique mutational process that occurs in the sexual cycle of Neurospora crassa during ... 1994 The Neurospora transposon Tad is sensitive to repeat-induced point mutation (RIP). Genetics 138: 657-664. ... Escape From Repeat-Induced Point Mutation of a Gene-Sized Duplication in Neurospora crassa Crosses That Are Heterozygous for a ... In Neurospora crassa the ability of an ectopic gene-sized duplication to induce repeat-induced point mutation (RIP) in its ...
http://www.genetics.org/content/157/4/1581
*  A Point Mutation of Tyr-759 in Interleukin 6 Family Cytokine Receptor Subunit gp130 Causes Autoimmune Arthritis | JEM
The gp130F759/F759 mouse is thus a unique animal model in which a point mutation in a cytokine receptor results in a RA-like ... A Point Mutation of Tyr-759 in Interleukin 6 Family Cytokine Receptor Subunit gp130 Causes Autoimmune Arthritis. Toru Atsumi, ... On the other hand, to make the gp130F759/F759 mouse, we introduced point mutation at tyrosine residue Y759, which is required ... Here we showed that a point mutation of Y759 in gp130 in mice caused spontaneous development of an age-dependent RA-like joint ...
http://jem.rupress.org/content/196/7/979.full
*  A Cav3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure...
A Cav3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure ... A Cav3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure ... A Cav3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure ... A Cav3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure ...
http://www.jneurosci.org/content/29/2/371/tab-article-info
*  A rapid bioanalytical tool for detection of sequence-specific circular DNA and mitochondrial DNA point mutations | SpringerLink
Mutations in mitochondrial DNA (mtDNA) have been an essential cause of numerous diseases, making their identification ... A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy. Biochem Bioph Res Co. 2006; ... A rapid bioanalytical tool for detection of sequence-specific circular DNA and mitochondrial DNA point mutations. ... for the detection of mtDNA point mutations and sequence-specific supercoiled plasmid DNA at the picomolar range. The probes are ...
https://link.springer.com/article/10.1007/s00216-019-01683-8
*  Compact Sequencing: Fast and Sensitive Detection of Clinically Relevant Point Mutations in KRAS | SelectScience
This allows focus on clinically relevant point mutations in genes of interest, with reference to personalised medicine. ... Application Note: Compact Sequencing: Fast and Sensitive Detection of Clinically Relevant Point Mutations in KRAS. 13 December ... This allows focus on clinically relevant point mutations in genes of interest, with reference to personalised medicine. ...
http://www.selectscience.net/application-notes/compact-sequencing-fast-and-sensitive-detection-of-clinically-relevant-point-mutations-in-kras/?artID=21264