SSCPMutationNucleotide polymorphismConformation polymorphism analysisMutationsGenesSNPs2002PolymeraseAnalysisCodonCancersDetectionQuadruplexUndergoTelomericTechniqueInfectionFunctionalLeukocyte antigenImmunodeficiency virusAntigenProteinRodentsChromosomesDiseasePhenotypesComplementaryTumoursSpeciesMethodsMalignanciesMolecularResultsCellsRiskExpressionInfectionsModelsSymptomsCatalyticProductVirusesViralContrast
SSCP4
- These had all been previously screened for the presence of p53 mutations in exons 2 and 4-11 by single strand conformational polymorphism (SSCP) analysis and DNA sequencing as previously described. (bmj.com)
- Methods: In our study enzyme amplification (PCR) of the 10 target exons of the said gene with simultaneous mutation detection in them by PCR-SSCP (Polymerase chain reaction-single strand conformational polymorphism) reaction analysis method was attempted by screening of exon 1 - 10 with respect to normal healthy controls without Diabetes Mellitus. (scirp.org)
- In search of a quick and reliable HPG classification, three different molecular approaches were tested: the restriction fragment length polymorphism (RFLP) method applied to mtDNA control region (CR), the single strand conformational polymorphism (SSCP) method applied to NADH dehydrogenase subunit 2 (MT-ND2) and to NADH dehydrogenase subunit 4 (MT-ND4) regions. (metu.edu.tr)
- Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) screening of genomic DNA may be used to make prenatal diagnosis. (medscape.com)
Mutation4
- METHODS: These methods included clinical diagnosis, mutation detection, haplotype analysis, and functional expression studies using single-channel recordings of mutant AChR transiently transfected into HEK293 cells. (ox.ac.uk)
- CONCLUSIONS: : Our findings confirm that the majority of CDKN2A-associated melanoma families in Sweden are due to a single founder mutation. (lu.se)
- Human Mutation , 20 (3), 235. (ewha.ac.kr)
- Thus, this study reports the results of a mutation analysis of the coding region of the SLC2A10 gene and the identification of six novel single nucleotide polymorphisms. (diabetesjournals.org)
Nucleotide polymorphism1
- This method is based on the extension of a primer that anneals immediately adjacent to the single-nucleotide polymorphism with fluorescent dideoxynucleotide triphosphates (minisequencing), followed by analysis on an ABI Prism 3700 capillary electrophoresis instrument. (ox.ac.uk)
Conformation polymorphism analysis2
- METHODS: : The entire CDKN2A coding region and exon 2 of the CDK4 gene of an affected member of each of 52 families from southern Sweden with at least two cases of melanoma in first- or second-degree relatives were screened for mutations by use of polymerase chain reaction-single-strand conformation polymorphism analysis. (lu.se)
- 2001) Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. (scirp.org)
Mutations4
- p53 mutations in exons 2-11 were assessed in 59 endometrioid carcinomas by polymerase chain reaction-single-strand conformational polymorphism and sequence analysis. (bmj.com)
- Twelve mutations (20.3%) and nine polymorphisms were identified. (bmj.com)
- Transforming mutations in GNAS have been well documented in human thyroid and pituitary tumours, and recent sequencing efforts have shown these mutations to be present in a wide variety of additional tumour types, including colon cancer, hepatocellular carcinoma, and parathyroid, ovarian, endometrial, biliary tract and pancreatic tumours. (nature.com)
- Nearly 20% of human cancers harbour mutations in GPCRs. (nature.com)
Genes3
- While expression of annotated genes in the human brain has been characterized extensively, our knowledge about the scope and the conservation of transcripts located outside of the known genes' boundaries is limited. (metu.edu.tr)
- More than half of all human genes are alternatively spliced, so it is expected that alternative pre- mRNA splicing will be responsible for the identification of more than 90 percent of all human proteins. (genomicglossaries.com)
- Short tandem repeat polymorphisms (STRPs) and single strand conformational polymorphisms (SSCPs) were identified in YACs, cosmids, and genes within the BBS2 interval and ordered using both genetic and physical mapping data. (bgu.ac.il)
SNPs2
- By optimised primer design it was possible to type the 4 relevant single nucleotide polymorphisms (SNPs) in the prnp simultaneously in one multiplex reaction. (biomedcentral.com)
- SNPs were detected via allele-specific oligonucleotide amplification coupled with real-time or electrophoretic product detection, or single strand conformation polymorphism. (oregonstate.edu)
20021
- Mclntyre, E.A. and Walker, M. (2002) Genetics of type 2 diabetes and insulin resistance: Knowledge from human studies. (scirp.org)
Polymerase3
- The aim of this study was to detect carriers of CVM in Holstein population using Polymerase Chain Reaction- Primer-introduced restriction analysis and Restriction Fragment Length Polymorphism (PCR-PIRA and RFLP) methods. (researchgate.net)
- A single forward primer and two species-specific reverse primers were used to produce a polymerase chain reaction (PCR) fragment of 306 bp and 543 bp for S. bovis and S. haematobium, respectively. (imperial.ac.uk)
- After second- strand cDNA synthesis, T7 RNA polymerase was used to generate aRNA. (genomicglossaries.com)
Analysis4
- Single-strand confirmation polymorphism and next-generation sequencing analysis revealed differences between the serum and cerebrospinal fluid-derived viral sequences, which is compatible with the presence of a separate HPgV compartment in the central nervous system. (cdc.gov)
- Genetic analysis confirmed association of two polymorphisms with increased risk for EOAD. (ox.ac.uk)
- Functional polymorphisms in CYTOCHROME P450 monooxygenases that metabolize nicotine have now been defined and it should soon be possible to identify fast nicotine metabolizers by DNA analysis. (ox.ac.uk)
- Haplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics. (oregonstate.edu)
Codon2
- Seven of the nine polymorphisms were codon 72 single nucleotide polymorphisms (SNP) with an Arg/Pro allelotype. (bmj.com)
- However, the codon 206 polymorphism may be related to the interindividual variation in fasting and oral glucose-induced serum insulin levels. (diabetesjournals.org)
Cancers2
- 2011. NADPH oxidase overexpression in human colon cancers and rat colon tumors induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP). . (oregonstate.edu)
- Dr Heidi Mattock and use genetic data to identify the etiology of human canceRs. (who.int)
Detection1
- Direct sequencing covering the region of exon 2 encoding amino acid positions 136, 154 and 171 is the most accurate method, that enables the typing of additional and detection of hitherto unknown polymorphisms. (biomedcentral.com)
Quadruplex4
- Indeed, given that four guanine residues can self-associate in a planar arrangement through a Hoogsteen-type hydrogen-bonding network [ 4 ] to form a structure called G-quartet, G-rich strands can adopt a peculiar three-dimensional arrangement called G-quadruplex DNA [ 5 - 9 ] resulting from the stacking of several contiguous G-quartets (Figure 1 ). (hindawi.com)
- The formation of G-quadruplex DNA is easily conceivable in DNA sequences that are present as single strands in cells, such as the telomeric overhang. (hindawi.com)
- Nevertheless, we have to keep in mind that these G-quadruplex-forming sequences although transiently single-stranded are a priori not as easily accessible as the telomeric sequences, due to the presence of the transcription machinery [ 28 ]. (hindawi.com)
- Dramatic effect of furanose C2' substitution on structure and stability: directing the folding of the human telomeric quadruplex with a single fluorine atom. (ub.es)
Undergo2
- Despite this finding, the authors proposed that SARS-CoV-2 fails to enter the HMDM cytoplasm because the S protein fails to undergo the necessary conformational changes required for membrane fusion in the absence of ACE2. (news-medical.net)
- Amyloidosis is a disorder of protein folding in which normally soluble proteins undergo a conformational change and are deposited in the extracellular space in an abnormal fibrillar form. (medscape.com)
Telomeric1
- Human telomerase is a reverse transcriptase which synthesizes telomeric repeat sequences at the ends of chromosomes. (metu.edu.tr)
Technique1
- A single quickly developing technique for attaining these kind of goals is to use 'high-valent' organometallic copper mineral and palladium intermediates within catalysis. (peptide-solubility.com)
Infection5
- Humans contract Blastocystis infection by drinking water or eating food contaminated with feces from an infected human or animal. (wikipedia.org)
- Blastocystis infection can be spread from animals to humans, from humans to other humans, from humans to animals, and from animals to animals. (wikipedia.org)
- TROGARZO, a CD4-directed post-attachment HIV-1 inhibitor, in combination with other antiretroviral(s), is indicated for the treatment of human immunodeficiency virus type 1 (HIV-1) infection in heavily treatment-experienced adults with multidrug resistant HIV-1 infection failing their current antiretroviral regimen. (nih.gov)
- TROGARZO, in combination with other antiretroviral(s), is indicated for the treatment of human immunodeficiency virus type 1 (HIV-1) infection in heavily treatment-experienced adults with multidrug resistant HIV-1 infection failing their current antiretroviral regimen. (nih.gov)
- It is indicated for the treatment of human immunodeficiency virus-1 (HIV-1) infection in adults and adolescents weighing at least 35 kg. (who.int)
Functional1
- The telomerase enzyme has two essential subunits to be functional which are called telomerase reverse transcriptase (hTERT) and human telomerase RNA (hTR). (metu.edu.tr)
Leukocyte antigen2
- The human leukocyte antigen (HLA) system is widely used as a strategy in the search for the etiology of infectious diseases and autoimmune disorders. (biomedcentral.com)
- Bone marrow transplantation (BMT) may be considered in young patients without bronchiectasis or severe chronic infections who have an human leukocyte antigen (HLA)-matched sibling donor. (medscape.com)
Immunodeficiency virus1
- We are in the fourth and final year of a study of the relationship between human immunodeficiency virus (HIV), and types of human papillomavirus (HPV), immunosuppression, and risk of development of high grade anal squamous intraepithelial lesions (HGASIL), the anal cancer precursor lesion most closely related to invasive anal cancer (R01CA55488, Nancy Kiviat PI). (cancer.gov)
Antigen1
Protein3
- Therefore, the demand on genotyping capacities of the polymorphisms of the prion protein gene ( prnp ) relevant to presently known disease associations and EU regulations is steadily increasing. (biomedcentral.com)
- Susceptibility to scrapie is largely controlled by three polymorphic amino acid positions (136, 154, 171) of the ovine prion protein gene ( prnp ) [ 4 ] and reliable genotyping of the corresponding DNA polymorphism is required as a basis for selection decisions. (biomedcentral.com)
- Because alternative RNA splicing allows different types of mRNA molecules to be created from a single gene, it generates the diversity of protein function and structure that is essential to complex organisms. (genomicglossaries.com)
Rodents1
Chromosomes1
- Human telomerase is a ribonucleoprotein complex that adds hexameric TTAGGG repeats to the ends of chromosomes in order to prevent their shortening. (metu.edu.tr)
Disease3
- The forkhead box D3 ( FOXD3 ) gene encodes a forkhead transcription factor that plays an important role in neural crest specification in vertebrates and therefore may be involved in human eye disease. (molvis.org)
- Campylobacter infections are among the most prevalent foodborne infections in humans, resulting in a massive disease burden worldwide. (biomedcentral.com)
- A related, often sympatric species is Borrelia bissettii , but this species has not been associated with human disease. (cdc.gov)
Phenotypes2
- Long non-coding RNA CASP5 promotes the malignant phenotypes of human glioblastoma multiforme. (cancerindex.org)
- FOXD3 variants increase the risk of anterior segment dysgenesis phenotypes in humans. (molvis.org)
Complementary1
- G-rich DNA strands are naturally involved in duplex-DNA architecture through association with their complementary C-rich DNA strands by the canonical Watson-Crick pairing [ 1 - 3 ]. (hindawi.com)
Tumours1
- 13 p16 INK4a is a cyclin dependent kinase inhibitor that is frequently mutated or deleted in many human cancer cell lines 14-16 and some sporadic malignancies, including sarcomas, breast cancer, leukaemia, and brain tumours, which are all component tumours of LFS. (bmj.com)
Species2
- Some researchers believe the debate has been resolved by finding of multiple species of Blastocystis that can infect humans, with some causing symptoms and others being harmless (see Genetics and Symptoms). (wikipedia.org)
- Schistosoma haematobium and S. bovis are widespread schistosome species causing human and cattle schistosomiasis, respectively, in Africa. (imperial.ac.uk)
Methods1
- Length Polymorphism (PCR-PIRA and RF LP) methods. (researchgate.net)
Malignancies1
- p53 genetic alterations are associated with advanced stage and aggressive tumors in a variety of human malignancies. (bmj.com)
Molecular2
- 2009. Tea catechins inhibit hepatocyte growth factor receptor (MET kinase) activity in human colon cancer cells: kinetic and molecular docking studies. . (oregonstate.edu)
- This RD-PCR proved highly sensitive, detecting a single larval stage and as little as 0.78 ng of genomic DNA (gDNA) from an adult schistosome, providing a cost-effective, rapid and robust molecular tool for high-throughput screening of S. haematobium and S. bovis populations. (imperial.ac.uk)
Results1
- Our results show that one out of 60 bulls tested exhibited polymorphism (G→T) at position 559 in exon 4 of SLC35A3 gene. (researchgate.net)
Cells3
- 2010. (-)-Epigallocatechin-3-gallate inhibits Met signaling, proliferation, and invasiveness in human colon cancer cells. . (oregonstate.edu)
- In contrast to epithelial cells, human macrophages manifest an abortive replication cycle for many viruses, such as rhinovirus and seasonal influenza A viruses. (news-medical.net)
- Since human monocyte-derived macrophages (HMDMs) do not express ACE2, these cells were used as in vitro models for ACE2-negative macrophages. (news-medical.net)
Risk1
- 2007. Cruciferous vegetables and human cancer risk: epidemiologic evidence and mechanistic basis. . (oregonstate.edu)
Expression1
- A biological process that is crucial for gene expression in most animal life, including humans. (genomicglossaries.com)
Infections2
- Broilers have been identified as the major source of campylobacteriosis and reducing Campylobacter loads in the broiler caeca has been proposed as an effective measure to decrease the number of infections in humans. (biomedcentral.com)
- Typical clinical symptoms of Campylobacter infections in humans are abdominal cramps, diarrhoea and fever. (biomedcentral.com)
Models1
- citation needed] A few of most commonly reported symptoms are: abdominal pain itching, usually anal itching constipation diarrhea watery or loose stools weight loss fatigue flatulence Some less commonly reported symptoms include: Skin rash Arthritic symptoms and joint pain Intestinal inflammation Researchers have sought to develop models to understand the variety of symptoms seen in humans. (wikipedia.org)
Symptoms2
- Researchers have published conflicting reports concerning whether Blastocystis causes symptoms in humans, with one of the earliest reports in 1916. (wikipedia.org)
- The incidence of reports associated with symptoms began to increase in 1984, with physicians from Saudi Arabia reporting symptoms in humans and US physicians reporting symptoms in individuals with travel to less developed countries. (wikipedia.org)
Catalytic1
- 2001) Two divalent metal ions in the active site of a new crystal form of human apurinic/apyrimidinic endonuclease, Ape1: implications for the catalytic mechanism. (edu.pl)
Product1
- To confirm this polymorphism, the PCR product was purified using ExoSAP-IT followed by sequencing by Applied Biosystems 3130XL Automated Sequencer using the ABI BigDye Ver 3.1. (researchgate.net)
Viruses1
- Many human cancer-associated viruses also express constitutively active viral GPCRs. (nature.com)
Viral1
- Based on the findings of single-cell RNA sequencing (scRNA-seq), viral RNA has been detected within macrophages in lung tissue and bronchoalveolar lavage (BAL) fluid from COVID-19 patients. (news-medical.net)
Contrast2
- Human obesity has an inherited component, but in contrast to rodent obesity, precise genetic defects have yet to be defined. (nih.gov)
- In contrast to BSE, there is no evidence for a transmission to humans. (biomedcentral.com)