Loading...
*  Patente US5538871 - In situ polymerase chain reaction - Google Patentes
... involve somatic point mutations and chromosomal rearrangements which can be distinguished from the parental sequence if ... After an insoluble dye, product of the enzyme reaction, has been deposited at points on the microscope slide where enzyme ... Detection of allele-specific mutations by allele-specific in situ reverse transcriptase polymerase chain reaction. ... at which point the polymerase is free to bind to another primer-template duplex and catalyze extension of that primer molecule ...
  http://www.google.es/patents/US5538871
*  Mutations of the p53 gene as a predictor of poor prognosis in patients with non-small-cell lung cancer. - Semantic Scholar
... through a point mutation and/or loss of heterozygosity is one of the most common genetic changes found in various types of ... 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 ...
  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...
The point mutation of GGT to GAT in codon 12 was frequently observed in the eases with AJPBD. CONCLUSION: These results suggest ... 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 ... CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency. Witchel, Selma F.; Smith, Rhonda; Crivellaro, Carlo ...
  http://connection.ebscohost.com/c/articles/16450436/gene-mutations-k-ras-gallbladder-mucosae-gallbladder-carcinoma-anomalous-junction-pancreaticobiliary-duct
*  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/
*  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
*  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
*  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
*  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
*  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
*  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 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
*  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
*  Abnormally spliced β-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated...
... of all point mutations causing human genetic diseases result in mRNA splicing errors,28-30 and about 30% of all mutations in ... The IVS1 + 5 G,A mutation of the human β-globin gene is a rare cause of β+ thalassemia. This mutation decreases the consensus ... Abnormally spliced β-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated ... Abnormally spliced β-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated ...
  http://www.bloodjournal.org/content/99/5/1811.long?sso-checked=true
*  Abstract 2751: Automatic DNA extraction system can improve the EGFR point mutation detection rate of liquid biopsy | Cancer...
As previously we reported, we have developed fully automatic high-sensitive point mutation detecting system named mutation- ... Abstract 2751: Automatic DNA extraction system can improve the EGFR point mutation detection rate of liquid biopsy. Chiho ... In terms of the epidermal growth factor receptor (EGFR) L858R point mutation detection, the sensitivity of 200-M, 200-A, 1000-A ... Automatic DNA extraction system can improve the EGFR point mutation detection rate of liquid biopsy [abstract]. In: Proceedings ...
  http://cancerres.aacrjournals.org/content/77/13_Supplement/2751
*  A novel strategy for point mutation biomarker discovery in the colorectal cancer genome with massively parallel resequencing |...
As a solution, we describe the development and application of a novel resequencing strategy for point mutation discovery on a ... A novel strategy for point mutation biomarker discovery in the colorectal cancer genome with massively parallel resequencing. ... A novel strategy for point mutation biomarker discovery in the colorectal cancer genome with massively parallel resequencing ... For example, mutations in APC, KRAS and TP53 are critical to the development of colorectal cancer. Mutations in genes like EGFR ...
  http://cancerres.aacrjournals.org/content/67/9_Supplement/3799
*  Fundus Autofluorescence in Macular Dystrophy associated with Mitochondrial DNA Nucleotide A3243G Point Mutation | IOVS | ARVO...
Abstract: : Purpose: The mitochondrial DNA point mutation 3243, which is responsible for maternally inherited diabetes and ... Fundus Autofluorescence in Macular Dystrophy associated with Mitochondrial DNA Nucleotide A3243G Point Mutation ... Fundus Autofluorescence in Macular Dystrophy associated with Mitochondrial DNA Nucleotide A3243G Point Mutation ... Fundus Autofluorescence in Macular Dystrophy associated with Mitochondrial DNA Nucleotide A3243G Point Mutation . Invest. ...
  http://iovs.arvojournals.org/article.aspx?articleid=2421589
*  Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor. | Broad...
Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor.. ... We show that the point mutation prevents the formation of the mature form of PCSK9 by hindering folding, reducing the rate of ... Amino Acid Substitution, Humans, Peptides, Point Mutation, Proprotein Convertase 9, Protein Binding, Protein Domains, Protein ... A PCSK9 loss-of-function point mutation (Q152H) that reduces LDLc levels two-fold was identified in a patient population. LDLc ...
  https://www.broadinstitute.org/publications/broad10146
*  CiNii 論文 - EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a...
EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a second mutation or amplification * * ... EGFR mutations in non-small-cell lung cancer : analysis of a large series of cases and development of a rapid and sensitive ... Mutations of the epidermal growth factor receptor gene in lung cancer : biological and clinical implications KOSAKA T ... EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to ...
  https://ci.nii.ac.jp/naid/10018768298
*  CiNii 論文 - A Novel Somatic Point Mutation of the RET Proto-oncogene in Tumor Tissues of Small...
A Novel Somatic Point Mutation of the RET Proto-oncogene in Tumor Tissues of Small Cell Lung Cancer Patients * * FUTAMI ... A novel point mutation of the RET proto-oncogene in small cell lung carcinoma cell lines FUTAMI H. ... Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease ROMEO G. ... Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related ...
  https://ci.nii.ac.jp/naid/10008071241