• In this paper we demonstrate that coupling a multiplexing procedure with our microarray method is possible for the simultaneous detection and genotyping of four point mutations, in three different genes, involved in Charcot-Marie-Tooth disease. (hindawi.com)
  • The DNA of each patient bores one heterozygous mutation in one of these genes. (hindawi.com)
  • Four heterozygous point mutations were typed in the three genes implicated in CMT disease. (hindawi.com)
  • The mitochondrial tRNA genes are hot spots for mutations that lead to human disease. (ncsu.edu)
  • Considerable interest in mitochondrial tRNAs centers on the occurrence of diseases arising from mutations in their genes that lead to maternally inherited genetic disorders (9Wittenhagen L.M. Kelley S.O. Trends Biochem. (ncsu.edu)
  • [ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
  • In addition, the offspring are generated by point mutation in the parents, which means that only a few genes have changed in the offspring compared to the parent. (springer.com)
  • To evaluate the role of mitochondrial genes, stem cell-specific genes and DNA repair genes in cancer development, their mutation frequency was determined via further analysis. (biomedcentral.com)
  • The aim of this study is to investigate both novel and proven mutations of 11 MODY genes in Turkish children by using targeted next generation sequencing. (degruyter.com)
  • Defects in genes, or genes that fail to appear altogether, are due to a process called mutation. (scienceclarified.com)
  • Mutations are alterations in existing genes,' says evolutionary biologist Dennis O'Neil. (scienceclarified.com)
  • Since humans have approximately 32,000 genes, it is to be expected that most sex cells contain at least one mutation of some sort. (scienceclarified.com)
  • Along with strong driver mutations and passenger mutations predicted to have neutral effects, the team's analysis pointed to a set of passenger mutations suspected of having intermediate effects on genes from immune, metabolic, and other pathways. (genomeweb.com)
  • Other genes are known to be associated with FIH and this test will only detect mutations in GCM2. (nemours.org)
  • Mutations in these genes result in diverse diseases collectively referred to as the laminopathies. (bmj.com)
  • Aside from varying intensity of symptoms there are no other known mutations, and it is not known at this time if mutations in other genes can trigger this same disease. (bionity.com)
  • Mutations in four color-related genes were identified using high resolution melting (HRM) curves of their PCR products. (frontiersin.org)
  • Targeting Induced Loci Lesions in Genomes (TILLING) is a reverse genetic approach that allows directed identification of mutations in specific genes. (frontiersin.org)
  • Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells. (lu.se)
  • This point mutation at a splice site in intron 8 was the first mutation in PSEN1 determined to result in the deletion of exon 9 from mRNA transcripts. (alzforum.org)
  • Now, several unique mutations have been identified that result in the exclusion of exon 9 and are variously known as ΔE9, Δ9, delE9, or deltaE9. (alzforum.org)
  • However, it was not clear from the report which exon 9 deletion mutation these individuals carried. (alzforum.org)
  • The skipping of exon 9 occurs in-frame and also results in an amino acid change at the splice junction of exon 8 and 10 (S290C). (alzforum.org)
  • The following summary refers to studies of PSEN1 mutants that result in the exclusion of exon 9 (denoted here as PSEN1ΔE9). (alzforum.org)
  • Homozygous knockout mice or mice heterozygoous for a point mutation in exon 7 display an abnormal gait. (jax.org)
  • An A1903G point mutation in exon 7 results in homozygous lethality. (jax.org)
  • An additional mutation in PAM sequence (exon 35) improved a PE2 result to 38% for a single transfection. (alliedacademies.org)
  • Minigenes carrying wild type PRPH2 or PRPH2 exon 2 mutations associated with rod or cone disorders were expressed in murine photoreceptors using recombinant adeno-associated virus (rAAV) vectors. (cipsm.de)
  • Many cases of GCH1 gene mutation negative have been discovered to harbor exon deletions in the GCH gene. (medscape.com)
  • Idylla results were compared with fragment length (exon 19 del) and Taqman assays. (bmj.com)
  • in addition, Idylla detected two low abundance EGFR exon 19 deletions and two G719X exon 18 point mutations, not covered by our standard reference method. (bmj.com)
  • Point mutations may arise from spontaneous mutations that occur during DNA replication. (wikipedia.org)
  • There are multiple ways for point mutations to occur. (wikipedia.org)
  • Statistical analysis was performed to identify candidate domains in which mutations occur with high statistical significance. (biomedcentral.com)
  • In order for a mutation to be inherited, it must occur in the genetic material of a sex cell,' O'Neil says. (scienceclarified.com)
  • Mutations occur when DNA replicates itself. (scienceclarified.com)
  • When the FIP1L1-PDGFRA fusion gene mutation or point mutations in the PDGFRA gene occur in blood cell precursors, the growth of eosinophils (and occasionally other blood cells, such as neutrophils and mast cells) is poorly controlled, leading to PDGFRA -associated chronic eosinophilic leukemia. (medlineplus.gov)
  • Genomics can tell us where mutations occur, but establishing which are actually associated with disease is done via expensive, laborious, time consuming experimental work. (thoughtworks.com)
  • In the present study, somatic mutations in KIT and PDGFRA were evaluated by direct sequencing analysis in a consecutive series of 80 GIST patients. (biomedcentral.com)
  • Whereas oncogenic KIT or PDGFRA mutations seem vital to promote the neoplastic transformation, additional somatic alterations are presumably necessary for the biological and clinical progression of these tumors and may explain the different responses to targeted therapy seen in these patients. (biomedcentral.com)
  • 12 ] mapped non-synonymous somatic mutations of Breast Invasive Carcinoma and Colon Adenocarcinoma Tumor samples to their corresponding protein domains, in order to extract domains with significant mutation frequency. (biomedcentral.com)
  • If a mutation occurs in a somatic cell, it will affect only that person in whose body the cell resides. (scienceclarified.com)
  • With the help of a functionally informative sequencing method called FunSeq2, the researchers identified non-driver, somatic mutations and their predicted functional impact in 2,548 tumors profiled for the Pan Cancer Analysis of Whole Genomes (PCAWG). (genomeweb.com)
  • Building on recent studies suggesting that passenger mutations may "weakly affect tumor cell fitness by promoting or inhibiting tumor growth," the authors used a quantitative sequencing strategy known as FunSeq2 to score the predicted functional effects of somatic mutations present in 2,548 PCAWG tumor samples. (genomeweb.com)
  • Genetic rearrangements and point mutations affecting the PDGFRA gene are somatic mutations, which are mutations acquired during a person's lifetime that are present only in certain cells. (medlineplus.gov)
  • The somatic mutation occurs initially in a single cell, which continues to grow and divide, producing a group of cells with the same mutation (a clonal population). (medlineplus.gov)
  • In addition to clinico-pathological high-risk groups, patients with KIT mutations, genomic complexity, genomic gains and deletions at either 1p or 22q showed a significantly shorter disease-free survival. (biomedcentral.com)
  • This gene in humans contains 6 exons, and various mutations (missense, frameshift, base insertions, base deletions) have been described. (medscape.com)
  • These sporadic cases may be explained by either incomplete penetrance/expression of GCH1 gene mutations or by de novo mutations or deletions in the gene. (medscape.com)
  • This will detect point mutations, small deletions and small insertions. (nemours.org)
  • Most cases of Charcot-Marie- Tooth (CMT) disease are caused by mutations in the peripheral myelin protein 22 gene (PMP22), including heterozygous duplications (CMT1A), deletions (HNPP), and point mutations (CMT1E). (bvsalud.org)
  • A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. (wikipedia.org)
  • A mutation (also referred to as viral mutation or genetic mutation) of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus is a change in the genetic sequence of the SARS-CoV-2 virus when compared with a reference sequence such as Wuhan-Hu1 (the first genetic sequence identified) or USA-WA1/2020 (the first identified in the United States). (fda.gov)
  • So far, medical scientists have identified almost ten thousand diseases stemming from genetic mutation. (scienceclarified.com)
  • Scientists cannot yet identify the specific causes of genetic mutation. (scienceclarified.com)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • W]e adapted an additive effects model from complex trait studies to show that the aggregated effect of putative passengers, including undetected weak drivers, provides significant additional power ([around 12 percent] additive variance) for predicting cancerous phenotypes, beyond PCAWG-identified driver mutations," the authors explained. (genomeweb.com)
  • Aggrecan is an essential protein present in cartilage and we have identified a point mutation in this protein which better models phenotypes seen in patients with mutations in aggrecan such as aggressive osteoarthritis and short stature. (brookes.ac.uk)
  • Because the wa-2 mutation was mapped previously to the vicinity of the EGF/TGF-α receptor (EGFR) gene on mouse chromosome 11, we hypothesized that the wa-2 phenotype might result from a defect in either the expression or activity of EGFR, or both. (houstonmethodist.org)
  • Various disease-causing mutations have been identified, but the exact contribution of a given mutation to the clinical phenotype remains unclear. (cipsm.de)
  • There is a highly specific genotype-phenotype correlation between the LMNA R527H mutation and MAD. (bmj.com)
  • Point mutations have a variety of effects on the downstream protein product-consequences that are moderately predictable based upon the specifics of the mutation. (wikipedia.org)
  • Frame-shift mutations are also possible in start-gain mutations, but typically do not affect translation of the original protein. (wikipedia.org)
  • Start-loss is a point mutation in a transcript's AUG start codon, resulting in the reduction or elimination of protein production. (wikipedia.org)
  • A missense mutation changes a codon so that a different protein is created, a non-synonymous change. (wikipedia.org)
  • The protein may lose its function, which can result in a disease in the organism. (wikipedia.org)
  • A silent mutation does not affect the functioning of the protein. (wikipedia.org)
  • A single nucleotide can change, but the new codon specifies the same amino acid, resulting in an unmutated protein. (wikipedia.org)
  • The defective aminoacylation of the 8U→C hmtRNAMet made it difficult to assess the effects of the mutation on additional steps in protein biosynthesis. (ncsu.edu)
  • The mutation causes the cells to produce a distorted protein, which switches on the IRAK complex pathway, leading to activation of NF-kB, a protein that is essential for the growth and survival of Waldenström's tumor cells," Treon comments. (sciencedaily.com)
  • Since protein domains are representatives of functional regions within proteins, mutations on them may disturb the protein functionality. (biomedcentral.com)
  • Therefore, distinguishing mutations with drastic impacts on protein functionality may help discriminate driver mutations from less significant ones. (biomedcentral.com)
  • To this aim, some efforts have been made to study cancer mutations at the protein domain level. (biomedcentral.com)
  • This study represents a method to explore protein domains with significant mutation frequencies, using whole exome sequencing data. (biomedcentral.com)
  • When that amino acid combines with others, either a different protein will result or, in some mismatches, no protein at all will be produced. (scienceclarified.com)
  • T]he FunSeq tool assigns a molecular functional impact score to a mutation based on various features," the authors explained, such as "inter-species conservation, gain or break of transcription factor motifs, disruption of known enhancer-gene interactions, and centrality in the gene regulatory or protein-interaction network. (genomeweb.com)
  • Similarly, point mutations in the PDGFRA gene can result in a PDGFRA protein that is activated without ligand binding. (medlineplus.gov)
  • To examine the effects of distinct PRPH2 point mutations on mRNA splicing and protein expression in vivo , we designed PRPH2 minigenes containing the three coding exons and relevant intronic regions of human PRPH2. (cipsm.de)
  • In addition, we show that only the correctly spliced isoform results in detectable protein expression. (cipsm.de)
  • Strikingly, three out of five cone disease-causing PRPH2 mutations profoundly enhanced correct splicing of PRPH2, which correlated with strong upregulation of mutant PRPH2 protein expression in cones. (cipsm.de)
  • By contrast, the pathology of rod-specific PRPH2 mutations is rather characterized by PRPH2 downregulation and impaired protein localization. (cipsm.de)
  • This is the first mouse model demonstrating that mutations in this basement membrane protein results in chronic renal disease and confirms current findings from patient sequencing. (brookes.ac.uk)
  • Once a protein is linked to a disease, the next question becomes: which mutations are important? (thoughtworks.com)
  • A protein can have many point mutations, some can be fatal to the protein, others have little effect. (thoughtworks.com)
  • Structural biologists have the power to examine proteins and tell which mutation is most likely to have major repercussions on the protein, and therefore the human it floats in. (thoughtworks.com)
  • Many computational methods for gaining functional insights from sequence data are based on the simple, but powerful, observation that functionally important nucleotides tend to remain unchanged over evolutionary time, because mutations at these sites generally reduce fitness and are therefore eliminated by natural selection 7 - 15 . (biorxiv.org)
  • A single point mutation can change the whole DNA sequence. (wikipedia.org)
  • Multilocus sequence typing (MLST), which has been used in the evaluation of a number of other bacterial species ( 11 - 14 ), provides an alternative method for measuring genetic relatedness and has provided data for identifying both point mutations and LGT events ( 14 ). (cdc.gov)
  • To establish the nature of the wa-2 mutation, we determined the nucleotide sequence of the coding region of normal and wa-2 murine EGFR cDNAs. (houstonmethodist.org)
  • As the virus circulates and spreads, it accumulates mutations that are used to name new virus sequences so that researchers, health care providers, and public health authorities have a common language to describe genetic sequence mutations. (fda.gov)
  • The impact of mutations on a test's performance is influenced by several factors, including the sequence of the variant, the design of the test, and the prevalence of the variant in the population. (fda.gov)
  • A floxed sequence, including an frt-flanked neo, was located downstream of the F137L mutation and subsequently removed via transient cre expression. (jax.org)
  • This article presents a comprehensive study to map mutations from 29 cancer types to both sequence- and structure-based domains. (biomedcentral.com)
  • Very high frequency of novel mutations (42%) in our study population, supports that in heterogenous disorders like MODY sequence analysis provides rapid, cost effective and accurate genetic diagnosis. (degruyter.com)
  • They can be as small as a point mutation, which is a change in a single DNA condon [three base pairs in a DNA sequence that specify the instructions for making an amino acid] or as large as a major structural modification in chromosomes and even missing or extra chromosomes. (scienceclarified.com)
  • The resulting cDNA was subjected to an initial round of PCR across the BCR-ABL1 breakpoint followed by a second round to amplify the sequence flanking ABL1 codon 315. (bmj.com)
  • For example, sickle-cell disease is caused by a single point mutation (a missense mutation) in the beta-hemoglobin gene that converts a GAG codon into GUG, which encodes the amino acid valine rather than glutamic acid. (wikipedia.org)
  • These are both examples of a non-conservative (missense) mutation. (wikipedia.org)
  • A rare missense mutation (Lys650Met) in the tyrosine kinase region of FGFR3 causes a disorder termed severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). (medscape.com)
  • And if the mutation occurs at inactive nodes, the fitness of the offspring individual cannot be different from the parent, and then results in increasing the computation cost. (springer.com)
  • If, however, it occurs in a sex cell-sperm or egg-it will be passed on to the next generation, as O'Neil points out. (scienceclarified.com)
  • One little slip, and a mutation occurs. (scienceclarified.com)
  • If a mutation occurs, the letters get out of order and the recipe produces an amino acid other than the intended one. (scienceclarified.com)
  • This condition usually occurs as a result of genetic rearrangements that fuse part of the PDGFRA gene with part of another gene. (medlineplus.gov)
  • Heme is made from porphyrin and when a mutation occurs, heme production is interrupted. (bionity.com)
  • Central apnea occurs as a result of arterial compression at the cervical level of the foramen magnum. (medscape.com)
  • This has been confirmed by experiments in which a decreased binding affinity was observed in strains of E. coli with known mutations in the A site in the rRNA (G966U or G1058C). (kenyon.edu)
  • Discriminating driver mutations from the ones that play no role in cancer is a severe bottleneck in elucidating molecular mechanisms underlying cancer development. (biomedcentral.com)
  • NEW YORK - Results from a new analysis of tumor sequences, led by researchers at Yale University, suggest that passenger mutations may not be as benign as previously believed but may work together to influence tumorigenesis in more subtle ways than cancer driver mutations. (genomeweb.com)
  • Findings from past pan-cancer analyses indicate that the average tumor contains roughly five driver mutations, the team noted, while the vast majority of alterations fall into the passenger mutation category. (genomeweb.com)
  • This work establishes a foundation for understanding the physiological consequences of the numerous mitochondrial tRNA mutations that result in disease in humans. (ncsu.edu)
  • A systematic examination of the structural and biochemical consequences of these mutations is lacking. (ncsu.edu)
  • Results for Reference: Functional consequences and exonuclease kinetic parameters of point mutations in bacteriophage T4 DNA polymerase. (neb.com)
  • The new research starts to explain how quantum mechanical effects may hold the key to the secrets of genetic mutations and their many consequences for life on Earth. (sciencedaily.com)
  • Single- nucleotide polymorphism (SNP) arrays were used to study PMP22 mutations based on the results of multiplex ligation-dependent probe amplification (MLPA) and polymerase chain reaction - restriction fragment length polymorphism methods in 77 Chinese Han families with CMT1. (bvsalud.org)
  • Recently, several mitochondrial deoxyribonucleic acid (mtDNA) point mutations have been associated with MICM. (nih.gov)
  • A Disease-causing Point Mutation in Human Mitochondrial tRNA(Met) Results in tRNA Misfolding Leading to Defects in Translational Initiation and Elongation. (ncsu.edu)
  • A single point mutation (T4409C) in the gene for human mitochondrial tRNAMet (hmtRNAMet) has been found to cause mitochondrial myopathy. (ncsu.edu)
  • The diseases associated with mitochondrial tRNA mutations may arise from failure in the processing of the tRNA (13Levinger L. Jacobs O. James M. Nucleic Acids Res. (ncsu.edu)
  • As a result of this dual role, mitochondrial Met-tRNAMet must be recognized by the mitochondrial Met-tRNA transformylase (MTFmt) and be brought as fMet-tRNAMet to the ribosome for translational initiation (19Spencer A.C. Spremulli L.L. Nucleic Acids Res. (ncsu.edu)
  • This mutation leads to mitochondrial myopathy resulting in dystrophic muscles and exercise intolerance (20Vissing J. Salamon M.B. Arlien-Soborg P. Norby S. Manta P. DiMauro S. Schmalbruch H. Neurology. (ncsu.edu)
  • This mutation acts as a modulator of Leber's Hereditary Optic Neuropathy increasing the severity of this condition when it arises because of other mutations in the mitochondrial DNA. (ncsu.edu)
  • To determine the biochemical consequence of the 8U→C mutation, the abilities of the U8 and 8U→C hmtRNAMet transcripts to be aminoacylated by the human mitochondrial methionyl-tRNA synthetase (hmMetRS) were tested. (ncsu.edu)
  • To study and describe a large family with the tRNA Leu(UUR) point mutation at position 3243 in mitochondrial DNA, which is associated with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes. (nih.gov)
  • Clinical evaluation, muscle biopsy, and mitochondrial DNA point mutation quantitation of the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes in muscle and blood. (nih.gov)
  • This report suggests that this point mutation may not be associated with stroke in all families and that whether patients develop stroke may depend on the percentage of mutant mitochondrial DNA and its tissue distribution. (nih.gov)
  • A comparison of these sequences revealed a single-nucleotide transversion resulting in the substitution of a glycine for a conserved valine residue near the amino terminus of the tyrosine kinase domain. (houstonmethodist.org)
  • The importance of this mutation was confirmed by showing that its introduction into an otherwise normal EGFR markedly reduced the receptor's tyrosine kinase activity in transfected Chinese hamster ovary cells. (houstonmethodist.org)
  • Aims The BCR-ABL1 T315I mutation imparts resistance to tyrosine kinase inhibitors currently available for treatment of chronic myelogenous leukaemia. (bmj.com)
  • In the evolutionary model, mutations are hailed as a dominant mechanism for pond-scum-to-people evolution and provide "proof " that the Bible 's history about creation is wrong. (answersingenesis.org)
  • Therefore, in the standard CGP, variable-length genotype is not used and the mutation operator is the unique evolutionary operator. (springer.com)
  • Oncogenic point mutations in KIT or PDGFRA are recognized as the primary events responsible for the pathogenesis of most gastrointestinal stromal tumors (GIST), but additional genomic alterations are frequent and presumably required for tumor progression. (biomedcentral.com)
  • We report an overall mutation frequency of 87.5%, with 76.25% of the tumors showing alterations in KIT and 11.25% in PDGFRA . (biomedcentral.com)
  • Furthermore, the relationship between the pattern of KIT and PDGFRA oncogenic mutations and that of cytogenetic changes has not been systematically studied, precluding a full understanding of the genetic pathways involved in GIST development. (biomedcentral.com)
  • KIT or PDGFRA mutations were evaluated in all samples using direct sequencing analysis. (biomedcentral.com)
  • PDGFRA -associated chronic eosinophilic leukemia is caused by mutations in the PDGFRA gene. (medlineplus.gov)
  • Rarely, changes in single DNA building blocks (point mutations) in the PDGFRA gene are found in people with this condition. (medlineplus.gov)
  • The most common genetic abnormality in PDGFRA -associated chronic eosinophilic leukemia results from a deletion of genetic material from chromosome 4 , which brings together part of the PDGFRA gene and part of the FIP1L1 gene, creating the FIP1L1-PDGFRA fusion gene. (medlineplus.gov)
  • The investigators analyzed the calvaria and skull base in mice with an achondroplasia-like mutation, as well as in humans with achondroplasia or FGFR3 -related craniosynostoses. (medscape.com)
  • However, attempts to quantify point mutations in metagenomic sequencing data often go wrong because the methods do not distinguish sufficiently well between mutated and wildtype variants of the same gene. (pensoft.net)
  • In this study, we provide a partial remedy to these problems through the introduction of a software tool, Mumame (Mutation Mapping in Metagenomes), that can quantify and distinguish between wildtype and mutated gene variants in metagenomic data, and through suggesting a statistical framework for handling the output data of the software. (pensoft.net)
  • The SARS-CoV-2 variants (including alpha, beta, delta, and omicron) that have driven the COVID-19 pandemic all stem from mutations in the virus's genome which changed the virus's structure, making the virus more difficult for our immune systems to recognize and defend against. (learn-biology.com)
  • The variation in pulsed-field gel electrophoresis (PFGE) analysis of genomic restriction fragments ( 6 , 10 ) has been attributed to point mutations. (cdc.gov)
  • The final PCR product was pyrosequenced to detect and quantify the T315I point mutation. (bmj.com)
  • We also identified that sequencing depth is a key factor to detect rare mutations. (pensoft.net)
  • 3 Laboratories may use any validated EGFR testing method that is able to detect mutations in cytological specimens with as little as 10% tumour cells. (bmj.com)
  • We found that tumor cells in 90 percent of the patients we tested contained a single point mutation, an error in one of the bases that make up the 'rungs' of the DNA helix," says Steven Treon, MD, PhD, who led the research with his Dana-Farber colleague Zachary Hunter. (sciencedaily.com)
  • These results suggest that new, effective treatments that target the tumor cells directly are now possible for people with the disease. (sciencedaily.com)
  • Ninety percent of the tumor cells had a point mutation in the gene MYD88. (sciencedaily.com)
  • Their findings, documented in a paper in Cell on Thursday , indicated that passenger mutations broadly line up with broader tumor signatures and tumor sub-clone features, potentially adding up to influence cancer features in complex ways. (genomeweb.com)
  • They also explored potential passenger mutation interactions with transcription factor binding sites and other regulatory features in the genome and looked at the relationship between proposed passenger mutations and tumor features overall - from the apparent mutational processes at play to the mutation patterns in tumor sub-clones. (genomeweb.com)
  • Conclusion The described test is useful for detection and relative quantification of the T315I point mutation in chronic myelogenous leukaemia in a sensitive, specific and reproducible manner. (bmj.com)
  • Scholars@Duke publication: Detection of H-ras mutations in urine sediments by a mutant-enriched PCR technique. (duke.edu)
  • Therefore, much larger numbers of sequences may be required for reliable detection of mutations than for most other applications of shotgun metagenomics. (pensoft.net)
  • As we previously localized TGF-α mRNA to the inner root sheath, this pattern of EGFR expression is consistent with the effect of the wa-2 mutation on hair structure, and together with our previous characterization of TGF-α- deficient mice, reveals a critical role for signaling by this ligand/receptor system in skin. (houstonmethodist.org)
  • This epidemic expansion probably resulted from a single source after a lateral gene transfer (LGT) event that changed the serotype of an epidemic V. cholerae O1 El Tor strain to O139. (cdc.gov)
  • Here we show that the single 8U→C mutation leads to a failure of the tRNA to respond conformationally to Mg2+. (ncsu.edu)
  • The research, presented at the American Society of Hematology's 2011 annual meeting on Dec. 12, points to an error in a single digit of DNA -- one of three billion letters in the human genetic code -- as the leading culprit in Waldenström's, and a prime target for new therapies against the disease. (sciencedaily.com)
  • 17 Homozygosity for a single mutation (R527H) was found in all nine affected individuals, who also shared a common disease haplotype. (bmj.com)
  • Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome. (lu.se)
  • Heterozygous" mutant DNA samples gave signal intensity ratios close to 1 at the positions of the mutations as expected. (hindawi.com)
  • Studies of index cases was done with MISEQ-ILLUMINA, and family screenings and confirmation studies of mutations was done by Sanger sequencing. (degruyter.com)
  • The goals of this study were to retrospectively review the authors' experience with Sanger sequencing-based BCR-ABL1 kinase domain mutation testing, paying particular attention to the T315I mutation, and to develop an alternative test for relative quantification of T315I using pyrosequencing. (bmj.com)
  • All 26 specimens that tested positive by Sanger sequencing for the T315I mutation were also positive using the pyrosequencing test. (bmj.com)
  • Estimates of the frequency of mutations in human sex cells generally are about one per 10 to 100,000 for any specific gene. (scienceclarified.com)
  • Our main focus is the frequency spectrum of this process, that is, the proportion of alleles having a given number of copies at a specified time point. (hindawi.com)
  • These include the number of alleles at a given generation or time, the generation number or time of the last mutation, and the limiting frequency spectrum. (hindawi.com)
  • In this paper, we are interested in the frequency spectrum of the IAMBP, which may be defined as the number or proportion of alleles present in a given number of individuals at a specified time point. (hindawi.com)
  • Approximately 80% of cases are due to a new ( de novo ) dominant mutation, with the mutation rate estimated to be 1.4 x 10 -5 per gamete per generation. (medscape.com)
  • Recommendations for clinical laboratory staff and health care providers and information about certain tests for which the FDA has identified potential impacts on performance due to SARS-CoV-2 genetic mutations are also included on this page. (fda.gov)
  • Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course. (lu.se)
  • Genetic factors include, but are not limited to inherited germline mutations, changing DNA methylation rate and microRNA modifications. (biomedcentral.com)
  • The SARS-CoV-2 virus has mutated over time, resulting in genetic variation in the population of circulating viral strains, also called lineages. (fda.gov)
  • In essence, the "experiment" considered by these methods is the one conducted directly on genomes by nature over millenia, and the outcomes of interest are the presence or absence of fixed mutations. (biorxiv.org)
  • In a series of follow-up analyses, the investigators used machine learning and other methods to delve into the relative contributions of various passenger mutations to tumorigenesis. (genomeweb.com)
  • Bioinformatic methods for metagenomic analysis have generally been poor at accounting for this fact, resulting in a somewhat limited picture of important aspects of microbial communities. (pensoft.net)
  • Favorable mutations can be identified by screening a mutagenesis library using high-throughput screening methods. (frontiersin.org)
  • Stop-loss is a mutation in the original termination codon (a stop was lost), resulting in abnormal extension of a protein's carboxyl terminus. (wikipedia.org)
  • This mutation presents as splenic lymphoma, is largely confined to lymphocyte cells, and results in severely abnormal mitochondria leading to serious defects in energy production (22Lombes A. Bories D. Girodon E. Franchon P. Ngo M. Breton-Gorious J. Tulliez M. Goossens M. Hum. (ncsu.edu)
  • This mutation results in a drastic disruption of the structure of the hmtRNAMet, which significantly reduces its aminoacylation. (ncsu.edu)
  • As a result, any spontaneous point mutation would have found its way back to its natural and more stable position when the strands are separated. (sciencedaily.com)
  • Together with recent crystal structures of ASL (Val3) UAC-cmo (5)U 34;m (6)A 37 bound to all four of the valine codons in the A-site of the ribosome's 30S subunit, these results clearly demonstrate that the xo (5)U 34-type modifications order the anticodon loop prior to A-site codon binding for an expanded codon reading, possibly reducing an entropic energy barrier to codon binding. (ncsu.edu)
  • This page provides information about tests authorized by the U.S. Food and Drug Administration (FDA) for the identification and differentiation of specific SARS-CoV-2 mutations and lineages as well as the impact of viral mutations on COVID-19 tests. (fda.gov)
  • Molecular, antigen, and serology tests are affected by viral mutations differently due to the inherent design differences of each test. (fda.gov)
  • A T to C transition resulted in the insertion of the human F137L mutation in the third transmembrane region. (jax.org)
  • Traditionally, CMT pathophysiology has been categorized into 2 processes: a predominant demyelinating process resulting in low conduction velocities (CMT1) and a predominant axonal process resulting in low potential amplitudes (CMT2). (medscape.com)
  • Thus, we believe that this mutation has disrupted a critical Mg2+-binding site on the tRNA required for formation of the biologically active structure. (ncsu.edu)
  • The A4435G mutation leads to the change of A37 to G37 in the anticodon loop of the tRNA (21Qu J. Li R. Zhou X. Tong Y. Lu F. Qian Y. Hu Y. Mo J.Q. West C.E. Guan M.X. Investig. (ncsu.edu)
  • Thus, it was possible to use the normal transcript and a transcript containing the 8U→C mutation for studies on the effect of the mutation on the properties of the tRNA. (ncsu.edu)
  • Twelve patients from three generations in a family carrying the tRNA Leu(UUR) point mutation at position 3243 were studied. (nih.gov)
  • G1138A and G1138C mutations of FGFR3 account for 99% of the mutational changes in patients with achondroplasia. (medscape.com)
  • Mutational analysis of the lamin A/C gene revealed homozygosity for the identical R527H mutation as reported previously, but with a distinct haplotype. (bmj.com)
  • Our results demonstrate that microspore derived Doubled Haploids from EMS soaked buds represents an efficient approach to rapidly generate homozygous Chinese cabbage mutants. (frontiersin.org)
  • High prevalence of glucokinase mutations in Italian children with MODY. (degruyter.com)
  • Prevalence of factor V Leiden and prothrombin G20210A gene mutation. (medscape.com)
  • 14] Based on this study, the prevalence rate for achondroplasia was estimated to be 0.5-1.5 cases per 10,000 births and the mutation rate to be 1.72-5.57 x 10-5 per gamete per generation. (medscape.com)
  • The severity of the disease could not be foreseen by the proportion of mutation in blood. (nih.gov)
  • The mutation was shown to segregate with disease in this family (it was present in three affected individuals and absent in five unaffected). (alzforum.org)
  • Mice harboring the waved-1 (wa-1) and waved-2 (wa-2) mutations exhibit skin and eye abnormalities that are strikingly similar to those of TGF-α- deficient mice, and wa-1 and TGF-α were recently shown to be allelic. (houstonmethodist.org)