It is important to realize that mutations in different mutant individuals are not necessarily distinct. |
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Every local population of a species has its own gene pool with its own mutations and errors of sampling. |
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The mutations were backcrossed and checked for allelism by genetic complementation tests. |
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To eliminate possible additional mutations, the mutant strains were backcrossed eight times before genetic analyses. |
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It is the quick, hourlong sequence of alpha, beta and gamma emissions that can lead to the mutations in the lung tissue, which can cause cancer. |
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These data suggest that mutations of the out gene disrupt the programmed cell death of the germ cells. |
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Inherited dysfibrinogenemia is caused by mutations in the coding region of the fibrinogen A, B, or gamma gene. |
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The mutations that cause cystic fibrosis and dozens of other diseases are now routinely diagnosed in genetic testing labs. |
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The studies in question took samples of women who tested positive for either of these mutations. |
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The suo mutations were screened for their ability to restore growth of pex2 mutants on OA medium. |
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These species do not share other mutations, so taurine cattle, zebu, banteng, and gayal all occupy separate branches in the network. |
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Cancer is essentially the uncontrolled division of cells, and its development typically requires the presence of multiple mutations. |
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The first mutations of a single gene affecting the daily locomotion rhythm were found in the fruit fly Drosophila melanogaster. |
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The fixation of weakly selected mutations can be greatly influenced by strong directional selection at linked loci. |
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We found that mutations in small bristles affect several tissues during the development of the fruit fly. |
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A chief difficulty in arguing for macroevolution by mutations is the fact that most expressed mutations are either lethal or semi-lethal. |
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Therefore, these mutations would not increase in frequency in the population. |
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Polar mutations change a sense codon for a specific amino acid within a gene into a nonsense or translational termination codon. |
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Since junk DNA does not code for proteins, mutations can accumulate within it without natural selection weeding them out. |
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Strains with mutations in both genes are very sensitive to DNA damaging agents, have very short telomeres, and undergo cellular senescence. |
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In fact, several of the class 2 mutations still display increased flocculence. |
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We sequenced genomic DNA from heterozygous animals in an attempt to identify the remaining mutations. |
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Why are extragenic mutations evidently more common in viruses than in prokaryotes or eukaryotes? |
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When cysteine mutations are performed on the participating residues, spontaneous disulfide bond formation is observed. |
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Many variations in the human form, such as dwarfism or gigantism, can arise from such combined mutations. |
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The proximity of the nonsense mutation to the start codon indicates that these mutations are null alleles. |
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The vast majority of mutations in human tissues are certainly of endogenous origin. |
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The example cited by you, as proof of beneficial mutations is irrelevant to the Darwinian explanation of the transmutation of species. |
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Weak png mutations permit several transient S-M cycles to occur, producing embryos with a characteristic phenotype of multiple polyploid nuclei. |
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Since the gene genealogy is rooted, all the mutations and bifurcations are also time ordered from top to bottom. |
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Single-locus mismatches were interpreted as mutations or mistyping, and such nestlings were conservatively classified as withinpair young. |
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Numerous recessive lethal and sublethal mutations have been reported, as well as a few mutations causing flightlessness. |
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The way in which mutations are modeled is extremely important in determining the steady-state distribution of phenotypes. |
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In any case, these low estimates are in at least qualitative agreement with other evidence suggesting the recessivity of beneficial mutations. |
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The scientific point was that in the past 10 years, the mutations responsible for nearly all forms of dwarfism had been identified. |
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It is true that ultraviolet light causes mutations in all living organisms. |
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Both mutations are caused by the presence of the gypsy insulator between the enhancer and promoter sequences of the cut and yellow genes. |
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It is presumed that the very creation of life spawned from the song of its constant aleatoric mutations. |
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In sub mutations, we observed spindles that were unipolar, multipolar, or frayed with no defined poles. |
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Rad6 is important for DNA damage responses and strains with rad6 mutations are sensitive to UV irradiation. |
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Even in biology, apparent purpose is now thought to arise from the undirected mechanism of natural selection acting on random genetic mutations. |
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Class 1 mutations elongate cells and cause predominantly polar bud site selection. |
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Repeated exposure to nitrite could lead to an unfavourably high frequency of mutations. |
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Among the mutagens that have been used to induce mutations, chemical mutagens administered in various ways have become especially popular. |
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Chemicals that cause changes in DNA sequence, or mutations, are called mutagens. |
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These mutagens cause point mutations, because they change the genetic code at one point, so changing a protein's amino acid sequence. |
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This cell line detects a wide variety of mutagenic lesions, including point mutations, deletions and various types of chromosomal aberrations. |
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The increase in mutant frequency was attributed to an increase in point mutations. |
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This indicated that these mutants had point mutations and not exon deletion or insertion. |
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Among several mutations rumoured to alter senescence are the clavata mutants. |
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Scientists came to understand how genes mutate, and how mutations helped make natural selection possible. |
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In this example mutations accrue successively, starting with the most beneficial single mutation. |
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Kidney tumors and estrogen-treated kidneys have mutations in microsatellites. |
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Note that the numbers of mutations and gene conversion events per generation follow Poisson distributions. |
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Evolution of a smaller jaw would at best be a result of devolution, dysgenics caused by the accumulation of mutations. |
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These degenerin genes encode ion channels, and mutations in these genes appear to perturb the ionic balance in cells, resulting in their death. |
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For instance, introgressive events, even when rare, may be more important than mutations as a source of novel genetic variability within taxa. |
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If the majority of mutations have large negative impacts on fitness, pleiotropism will act to increase their selective effects in nature. |
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Similarly, mutations within the Drosophila CBP homolog have wide-ranging pleiotropic phenotypes. |
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Using this strategy, we have identified 15 mutations affecting at least nine loci that cause gross neurodegenerative pathology. |
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The challenge will be in identifying the biochemical changes associated with mutations for each neurodegenerative disease. |
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Researchers bred mice and monitored their offspring for DNA mutations passed through the sperm of the father. |
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These mutations were not present in normal cells, indicating that they arose somatically. |
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They were also tested for the common gene mutations that predispose to venous thromboembolism. |
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In the case of electrons, nine alleles had point-like mutations and three had rearrangements. |
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It is proposed that the effects of the selected mutations were propagated into the active site through groups of interacting residues. |
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An allelic series of mutations is a powerful genetic resource for understanding gene function. |
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Sense is inevitably degenerating into nonsense, like a pileup of random mutations in an endangered species gasping its last breaths. |
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There are three types of mutations, the nasal mutation, the spirant mutation and lenition. |
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No suppressor mutations were isolated from a screen of 104,000 haploid genomes. |
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Structural alterations of DNA, such as deletions, produce valuable null mutations for plant genetics. |
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Like most RNA viruses they accumulate mutations very fast, and the way the virus RNA replicates itself facilitates frequent recombination. |
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We analyzed gene mutations in patients who died of thrombotic events, using multiplex allele-specific polymerase chain reaction amplification. |
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A new study reveals for the first time how gene mutations lead to the inherited form of amyotrophic lateral sclerosis, or Lou Gehrig's disease. |
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In these cases, it is likely that these suppressor mutations define novel genes. |
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In addition to the known genes, we identified six mutations of novel genes. |
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This technique allows for the development of mice with specific genetic mutations that mimic human illnesses such as hemophilia. |
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There are legions of zombies, crows and assorted mutations, all sharing the common bond of considering your brains a nummy treat. |
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A major observation of embryology has been that developmental mutations are usually harmful and often fatal. |
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Since creationists recognize deterioration and mutations since the Fall, there is no uniquely evolutionist prediction here. |
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The locations of two mutations that could not be recovered in vivo are indicated by solid stars. |
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These mutations cause larval lethality resulting from failed gut function and consequent starvation. |
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These are mutations frequently detected in oncogenes or tumour suppressor genes from human tumours. |
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If those mutations happen to be in oncogenes or tumor suppressor genes and they accumulate over time, it might cause a skin cancer to develop. |
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Thus, most hereditary cancer syndromes are the result of inherited mutations in tumor suppressor genes rather than oncogenes. |
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In addition, these mutations would segregate at higher frequencies in the insular than in the continental species. |
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A large fraction of the eukaryotic DNA is composed of transposable elements that can cause mutations when they transpose to novel sites. |
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It's possible that the complex, chambered heart didn't change gradually, with many genes evolving minor mutations that changed their functions. |
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The empirically observed mutations are thus neither favored nor disfavored by natural selection. |
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This proportion is only an imperfect surrogate of the presence of mutations giving rise to resistance to antiretrovirals. |
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A total of 112 such mutations have been isolated and characterized in this study. |
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From the missing mutations in the old DNA sequences the researchers calculated that the Sima hominin lived about 400,000 years ago. |
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They identified genetic mutations that disabled specific steps in the synthesis of a complex molecule. |
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Nonhereditary DNA mutations are not classically understood as representing the individual's genotype. |
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We also examined the effect of variation of the degree of dominance of new mutations. |
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The dominance of deleterious mutations thus represents an important parameter in evolutionary biology. |
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Their cancer might have had nothing to do with genetic mutations of healthy genes. |
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Both large-scale losses via deletion and gene inactivations by revertible point mutations have been observed in modern microbes. |
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In the competitive struggle for existence, creatures possessing advantageous mutations would be favoured, eventually evolving into new species. |
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The plant hormone auxin plays a role in specifying the pattern of root cells, and mutations affecting its localization lead to root defects. |
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Clinical molecular geneticists spend their working lives finding, naming, and investigating genetic mutations. |
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Natural selection disfavors mutations that cause pistils to accept pollen from genotypes that reject their pollen. |
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Once the DNA is converted back into RNA, the introduced mutations will occur in the genome of the RNA virus. |
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And they've also found two new mutations that make the roaches more resistant to pyrethroid and related insecticides. |
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Genes at a locus that differ by mutations are known as alleles or haplotypes. |
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In this article we have made the somewhat artificial assumption that all new mutations have the same fitness effect. |
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Flies homozygous for such hypomorphic mutations reach adulthood, but often exhibit defects during the proliferative stages of gametogenesis. |
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Intriguingly, rhythmic luminescence in certain lines was affected by only a subset of the pacemaker mutations. |
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A genetical analysis demonstrated that two mutations affect the mitochondrial genome whereas the third mutation is of nuclear origin. |
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The two alleles that cause the most severe axon guidance defects have strikingly different mutations. |
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There are several different mutations leading to various degrees of taillessness, to bobtails and to curly tails. |
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However, the reproduction machinery of an organism is not protected from mutations. |
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The data indicate that the mutations complement with respect to the auxotrophic phenotype when grown on Sang's medium. |
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These mutations and their impact on the epidemiology of malaria are described below. |
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These rates are greater than expected for additive or multiplicative effects of the single mutations. |
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Thus, two of the polymerase mutants are modest spontaneous mutators for some point mutations in yeast strains that are proficient in DNA mismatch repair. |
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This must mean that there are at least two classes of mutators in the population and that most single mutations are not arising in the rare hypermutators. |
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Dawkins' evolutionary model relies on random mutations in single nucleotides during DNA replication, totally unguided, followed by selection of the fittest by the environment. |
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Generally, mutations which disrupt or weaken the stem structure reduce the pausing strength, whereas compensatory mutations restore the pausing strength. |
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Most importantly, if mutations have no effect on organismal fitness, the genealogy of a sample can be separated entirely from the mutational process. |
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Such sound shifts in comparative linguistics parallel, almost uncannily, the slow march of genetic mutations as offspring populations gradually separate from a parent stock. |
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The fixation of deleterious mutations may be a general explanation for heterosis in crosses between ecotypes, despite alternative overdominance interpretations. |
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All eye-color mutations tested assorted independently of the dimorphisms. |
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Also, there is proof that mutations in the human genome are not random, which opens the door for evolution with a purpose. |
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How likely is it that these mutations in the nicotinic receptor genes completely eliminate the functional activity of the encoded receptor protein? |
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Leach can now conduct large-scale genetic screens, studying the progress of mutations designed to mimic the way human pancreatic disease develops. |
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Molecular methods have been developed to monitor these mutations in the field isolates so as to evaluate the efficacy of sulpha drugs to treat malaria. |
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Nanoscale biosensors capable of detecting specific DNA sequences and genetic mutations in the lab could lead to new cancer detection methods or aid drug development. |
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Specific genotypic mutations in the protease gene can result in high levels of phenotype resistance to individual protease inhibitors and cross resistance. |
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One simple criterion for a developmental mutation is embryonic lethality, but this also catches mutations in genes involved in housekeeping functions. |
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The mutations make it more transmissible and possibly more likely to cause paralytic disease than ordinary live vaccine-derived strains, according to the Health Department. |
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Here we report the isolation of mutations in the Drosophila Tap 42 gene. |
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Fully recessive mutations are maintained in higher frequencies than partially recessive ones and thus cause greater declines in fitness under consanguineous matings. |
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These mutations generated variant repeats that differed at one or several positions from the canonical sequences defined earlier for each repeat of the A 2 allele. |
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He also said that mutations in non-coding portions of the gene, which control regulation, could also render it nonfunctional, which tends to push the number upward. |
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Numerous mutations may be added in the passage of the tumor cells. |
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A maximum of 50 offspring were tested from each ENU-treated male to prevent the recovery of identical mutations from the limited population of spermatogonial stem cells. |
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Unlike most chemical mutagens, which tend to cause point mutations, rays tend to produce larger aberrations such as chromosome deficiencies or rearrangements. |
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Because of the difficulties associated with performing genetics on partially penetrant mutations, this mutant will not be discussed further in this paper. |
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Point mutations, for example, can be due to tautomeric shift. |
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Missense mutations in human PAX6 tend to cause either milder forms of aniridia or other eye disorders, such as displaced pupils or Peters anomaly. |
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This stabilization leads to mutations and eventually to cell death. |
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The elucidation of the fly genome makes it relatively straightforward to generate and study mutations in proteins previously associated with integrins from other systems. |
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When it was assumed that these mutations were neutral, their frequency was higher under shaken than under stationary conditions, possibly due to oxygen stress. |
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By contrast, at least some nonsynonymous mutations are expected to be strongly deleterious because they damage protein structure and thereby render the cell nonviable. |
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Those 21 strains that grew on AT in the presence of LexA were rejected because the suppression could have been due to mutations that potentiate weak activators. |
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The argument goes that ageing is due to many, many, many mutations which, like Huntington's, affect us only late in life, mostly after we've reproduced. |
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How these mutations lead to the skeletal phenotype is not known. |
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Research is also in progress to obtain indehiscence through mutations and also to splice the appropriate Cuphea genes into a conventional crop such as rape. |
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Consequently recessiveness of the two mutations is well established. |
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We found that mildly deleterious mutations interacted synergistically in poor-resource environments but antagonistically in rich-resource environments. |
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However, we have noticed that there is a temporal increase in these mutations which should serve us a warning signal for prescribing the SP treatment. |
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The failure to recover mutations in genes encoding nucleosomal histones in this screen may be due to the presence of numerous copies of the histone gene cluster in flies. |
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These hopeful monsters were monstrosities produced by mutations. |
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Some mutations involving the hair are accompanied by defects of the skin and its appendages, such as nails, teeth, sebaceous glands, and mammary glands. |
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This is usually to their advantage because when you're infected with an RNA virus its frenzied mutations allow it to change quickly and so evade the immune system. |
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Furthermore, disequilibrium is a good indicator of recent mutations, genetic drift, bottlenecks, stratification or admixture, and the demographic history of populations. |
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This method magnifies the effect of heterozygous mutations on the posterior phenotypes, thus identifying even lethal genes involved in the targeted process. |
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First, although most of these mutations were induced by ethyl methanesulfonate, some were spontaneous and others were caused by ultraviolet light and trimethyl psoralen. |
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The critical role of certain building block fragments in the folding of their corresponding proteins suggests that mutations in these regions will be disfavored. |
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This rationale can be used to identify genomic regions or genes harboring mutations that maintain reproductive barriers between diverging populations. |
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This means that their gene pools stagnate and accumulate increasingly harmful mutations. |
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Over time, researchers were able to link many of these disorders with mutations in single genes. |
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Many cancers result from the acquisition of mutations in a family of genes called oncogenes, which normally serve important housekeeping functions for our cells. |
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One can study membrane protein formation and aggregation by examining the electrophoretic mobility of dimerizing proteins subject to point mutations. |
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There were very few transpositions of transposable elements or microsatellite mutations in these lines, evidence, in fact, for the absence of contamination by exogenous flies. |
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Whether the functionally independent mutants are the result of mutations in a single bifunctional gene or two separate genes has not been determined. |
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Molecularly, type 1 tumors often exhibit mutations in phosphatase and tensin homolog, Kras, and beta-catenin. |
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The false contradiction between Darwin's theory, genetic mutations, and Mendelian inheritance was thus reconciled. |
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When mutations occur, they may alter the product of a gene, or prevent the gene from functioning, or have no effect. |
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Mutations leading to the loss of function of a gene are much more common than mutations that produce a new, fully functional gene. |
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This occurs partly because random mutations arise in the genome of an individual organism, and offspring can inherit such mutations. |
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When such mutations result in a higher fitness, natural selection favours these phenotypes and the novel trait spreads in the population. |
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However, after a period with no new mutations, the genetic variation at these sites is eliminated due to genetic drift. |
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Natural selection reduces genetic variation by eliminating maladapted individuals, and consequently the mutations that caused the maladaptation. |
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This inhibits both transcription and DNA replication, causing toxicity and mutations. |
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In this gene, other mutations can cause a kind of nanism that is lethal during the first weeks of life. |
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In parallel, conditional and brain-specific VDR mutations have to be identified to assess their neurophenotypes. |
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Inbreeding depression is considered to be largely due to expression of deleterious recessive mutations. |
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Pigs are one of four known mammalian species which possess mutations in the nicotinic acetylcholine receptor that protect against snake venom. |
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The HTLV virus genome has been mapped, allowing identification of four major strains and analysis of their antiquity through mutations. |
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Manatees are unusual amongst mammals in possessing just six cervical vertebrae, which may be due to mutations in the homeotic genes. |
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Once in the food webs, these pesticides can cause mutations, as well as diseases, which can be harmful to humans as well as the entire food web. |
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Humans have lived in Africa for the longest time, which has allowed accumulation of a higher diversity of genetic mutations in these populations. |
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Each cellular division provides further opportunity to accumulate base pair mutations. |
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Once this is done it is possible to determine how many mutations separate one population from another. |
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Maize flowers may sometimes exhibit mutations that lead to the formation of female flowers in the tassel. |
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These mutations, ts4 and Ts6, prohibit the development of the stamen while simultaneously promoting pistil development. |
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The radiation decay products ionize genetic material, causing mutations that sometimes turn cancerous. |
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Carcinogens cause mutations in these genes which induce the development of cancer. |
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These mutations have been linked to rare developmental diseases such as achondroplasia and Costello syndrome. |
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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia gene. |
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And mutations in GDF6 lead to fusion of neck vertebrae in people with a genetic disorder known as Klippel-Feil syndrome, the researchers found. |
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That doesn't rule out the possibility that additional, as yet unidentified mutations in HIV underlie other cases of long-term survival. |
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Genome sequence and attenuating mutations in West Nile virus isolate from Mexico. |
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A family with hypogonadotropic hypogonadism and mutations in the gonadotropin releasing hormone receptor. |
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If bacterially infected colon cells can no longer repair damage to their DNA, mutations will accumulate, which will promote cancer growth. |
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Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models. |
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I love seeing memes take off and spark mutations and parodies and homages. |
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Salk scientists teamed up with colleagues from Nanjing University to review the mutations in mice. |
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These mutations can occur gradually or rapidly via a term called saltation or punctuated evolution. |
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Scientists have identified mutations in a gene that predict a high likelihood of relapse in children with acute lymphoblastic leukemia. |
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Detection of mutations in GC-rich DNA by bisulphite denaturing gradient gel electrophoresis. |
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Such a device could detect all the cystic fibrosis mutations simultaneously from a single blood sample. |
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By following mutations on these marker genes, tests can accurately determine whether two people are related along these sex-based lineages. |
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Bilateral mastectomy has been associated with reduced cancer incidence in women with BRCA1, BRCA2, or other high-risk gene mutations. |
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Defective MDNA from an egg can be replaced with healthy MDNA from a donor egg to prevent harmful mutations being passed on. |
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The mutations in melanoma cells occurred in parts of the melanocyte genome that are normally turned off. |
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Beta-globin mutations are associated with parenchymal siderosis and fibrosis in patients with non-alcoholic fatty liver disease. |
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A further two types of substitution are less common but potentially have more serious effects than missense mutations. |
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Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. |
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Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. |
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We report 3 cases with 1 homozygous and 2 heterozygous mutations at codon 37 causing a premature stop codon. |
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Melanocytes form nevi and from the nevi melanoma can develop through mutations in various genes. |
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Recently it has become evident that genetic mutations are not the sole determinants of either tumorigenesis or cancer heterogeneity. |
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Thus, different oncogenic mutations may give rise to cancers with different tumorigenic capacity. |
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Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. |
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In other microorganisms, sulfa drug resistance has resulted from specific point mutations in the dihydropteroate synthase gene. |
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The frequency with which mutations to novobiocin resistance arise are, in part, a measure of a cell's repair efficiency. |
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Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes. |
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This contrasts the traditional Darwinistic view that they are the result of natural selection in favour of adaptive mutations. |
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Thus, the selection of 2 mutations, each of which may preexist as minority species, leads to virologic failure with this regimen. |
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Tumors that contain RAS mutations have been associated with tumor dedifferentiation, distant metastases, and a poorer survival rate. |
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First we need to consider the difference between testing for somatic cell mutations and germline mutations, because the issues are different. |
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Functionally significant insulin-like growth factor 1 receptor mutations in centarians. |
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Connexin 43 mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. |
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Among the most notable findings were somatic point mutations in the gene ERBB2, which was found in a small but significant subset of the tumours. |
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The team discovered that Wip1 phosphatase is a key factor that causes point mutations to sprout in human cancers. |
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The mutations reveal a more lethal version of an EEC subtype previously thought to respond well to treatment. |
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In step one, or potentiation, at least two mutations arose that set the stage for the citrate-eating ability. |
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About KCNQ2 Epileptic Encephalopathy KCNQ2 epileptic encephalopathies are caused by mutations in the KCNQ2 gene. |
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While most of the mutations would result in cell death, perhaps a few cells would have mutations that promote a cancerous or precancerous state. |
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The study identified mutations in the sperm epigenome of great-grandchild male rats. |
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Familial TSE are invariably associated with PrPC mutations, and the dearth of genetic modifiers has hampered our understanding of prion diseases. |
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Frequency and distribution of GJB2 and GJB6 mutations in a large North American repository of deaf probands. |
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Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations. |
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Poplawska hopes to elucidate the effect that two common gene mutations, PiF and PiZ, have on inhibiting these neutrophil serine proteinases. |
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Familial hypobetalipoproteinemia is commonly caused by mutations in the apolipoprotein B gene. |
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Simple and sensitive detection of mutations in the ras proto-oncogenes using PNA-mediated PCR clamping. |
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Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. |
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In this new analysis, 430 patient tumor samples with wild-type KRAS status were assessed for additional RAS mutations. |
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Some researchers have suggested that the frequency of these mutations could represent a founder effect rather than mutational hot spots. |
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Recently it has been suggested that basal tumors are enriched for p53 nonsense and frameshift mutations. |
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Intercrosses are particularly useful with recessive mutations maintained in a small colony. |
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Although SNP5 and SNP7 were intronic mutations, they also might affect alternatively spliced transcripts of mRNA or transcription factor binding, thus affecting phenotype. |
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Filaggrin mutations, atopic eczema, hay fever and asthma in children. |
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Current thinking favours a skin barrier defect as the most significant predisposing factor, where mutations in the filaggrin gene feature strongly. |
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This finding suggests a high level of homoplasy, resulting from a high level of parallel and convergent mutations that could be the result of recombination events. |
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Alignment of DNA sequences identified areas of point mutations and, in the case of a single mourning dove, the incorporation of a triplet of nucleotides. |
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Unlike previous technologies, the probe molecule checks both strands of the target double helix for mutations rather than just one, which explains the increased specificity. |
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We note how de novo mutations may also help explain why the concordance rate for autism is so markedly higher in monozygotic than dizygotic twins. |
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The fourth variant incorporates all of the above changes and two additional site-specific mutations, T22C and S87C that form a stabilizing disulfide bridge. |
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Reverse transcriptase-polymerase chain reaction can detect tumor markers in malignant cells in the form of specific chromosomal translocations and mutations. |
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Xlinked adrenoleukodystrophy is a genetic disorder with mutations in the ABCD1 gene that result in the failure of peroxisomal oxidation of very long chain fatty acids. |
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Enzyme promiscuity, copper metallochaperones, chemical approaches to glycobiology, and somatic mitochondrial DNA mutations in mammalian aging are some other areas explored. |
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Thus, duplication mutations in affected boys, and duplication or deletion mutations in heterozygous females cannot be identified using this technique. |
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Oncogenic mutations in genes encoding key downstream effectors within the EGFR signalling pathways may also be responsible for resistance to EGFR-targeted MoAbs. |
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The nuclear envelope harbors key roles in cellular and organismal homeostasis, reflected by a variety of diseases caused by mutations in NE proteins. |
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It is, however, possible to identify most CF infants during the first days of life by measurement of blood immunoreactive trypsinogen and identification of CFTR mutations. |
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The correlation of neuropathologic studies with AD-related mutations can facilitate a pharmacogenomics approach to testing novel pharmaceuticals for human use. |
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Restoration of normal microenvironmental signaling can reverse the malignant phenotype even though the cancer cells retain all of their neoplastically transforming mutations. |
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Prenatal testing can be used to identify fetuses with chromosomal abnormalities or genetic mutations that would result in the birth of an affected newborn. |
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Karyotyping is superior at detecting low-level mosaicism, some ploidies, balanced but potentially pathogenic rearrangements, and de-novo heterozygous pathogenic mutations. |
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But I don't want to crash and burn before the thought of the evils, that are soft mutations, take a stranglehold on the iota of confidence I have left. |
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A StaR protein is a stabilised GPCR with a small number of point mutations that greatly improve its thermostability without disrupting its pharmacology. |
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These mutations inhibit the mechanism of action of GAA, an enzyme responsible for catabolizing glycogen, resulting in accumulation of glycogen in the lysosomes of the cells. |
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To conduct this research, the scientists collected skin cells from research subjects, mostly children and a few middle-aged men, with mitochondrial DNA mutations. |
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Inherited dilated cardiomyopathies are monogenic disorders caused by mutations in more than 30 genes, characterised by substantial phenotype heterogeneity. |
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Patients with mutations in the SF3B1 gene frequently had a specific abnormality of red blood cells in their bone marrow, called ring sideroblasts, researchers said. |
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In the present study there wasn't a correlation between FLT3 gene mutations, and age, gender, the WBCcount, blast cell rate, or FAB classification. |
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He said that now that they have the human RNase L structure, we can begin to understand the effects of carcinogenic mutations in the RNase L gene. |
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For Beijing genotype strains, the increase in mutation frequency during exposure to RIF could be due to described missense mutations in the mut genes. |
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Lectins can bind to the sugars found on different spots of the HIV-1 envelope, and presumably it will take multiple mutations for the virus to get around them. |
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This newly discovered molecular function likely explains why mutations in the hairless gene contribute to the pathogenesis of atrichia with papular lesions. |
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Similar to other RNA viruses, RVAs show high genomic diversity, which is generated primarily through point mutations, reassortment, rearrangement, and recombination events. |
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Four of these 6 patients, including 1 patient each with appendiceal, rectal, and colon cancer with KRAS mutations in their tumors, were on study for 24 weeks or more. |
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Physical mapping of temperature-sensitive mutations of adenoviruses. |
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The apparent dominant inheritance pattern was the result of the unusual coincidence of both mother and daughter being compound heterozygotes for senataxin mutations. |
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Names of SNP mutations can also be used to name clades or haplogroups. |
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The tree is formed through the testing of a large number of individuals all over the world for the presence or lack of a certain set of mutations. |
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Alternatively, the mutations may have arisen shortly afterwards. |
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Several specialized databases exist that report polymorphisms and mutations in the human mitochondrial DNA, together with the assessment of their pathogenicity. |
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This occurs most easily in allopatric speciation, where populations are separated geographically and can diverge gradually as mutations accumulate. |
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Numerous gene mutations have been association with oligodontia. |
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Occasionally, colour mutations, including albinos and erythrists, occur. |
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The East Asians owe their relatively light skin to different mutations. |
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The DNA sequence may be aligned with other DNA sequences to identify homologous sequences and locate the specific mutations that make them distinct. |
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The problem does not occur in allopatric speciation with geographically separated populations, which can diverge with different sets of mutations. |
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Some nonlethal regulatory mutations occur in HOX genes in humans, which can result in a cervical rib or polydactyly, an increase in the number of fingers or toes. |
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Although both mutation rates and average fitness effects of mutations are dependent on the organism, a majority of mutations in humans are slightly deleterious. |
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The neutral theory of molecular evolution proposed that most evolutionary changes are the result of the fixation of neutral mutations by genetic drift. |
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One such syndrome, hereditary leiomyomatosis and renal cell cancer, is caused by germline mutations in the FH gene encoding the Krebs cycle enzyme fumarate hydratase. |
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Hyperimmunoglobulin D syndrome develops as a result of mutations of the gene coding for the enzyme MVK, which plays a role in cholesterol and isoprenoid synthesis. |
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