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  • amino acid
  • When cells were deprived of a certain amino acid, tryptophan, for prolonged periods of time, point mutations in trp operon reverted to tryptophan, leading to an advantageous result, more frequently than under normal conditions when the mutations were neutral. (wikipedia.org)
  • In addition, the tryptophan mutation rate was unaffected when the cells were deprived of another amino acid, cysteine, further suggesting that the mutation rate was specific to situations in which the mutation was advantageous. (wikipedia.org)
  • Conservative mutations result in an amino acid change. (wikipedia.org)
  • A point accepted mutation - also known as a PAM - is the replacement of a single amino acid in the primary structure of a protein with another single amino acid, which is accepted by the processes of natural selection. (wikipedia.org)
  • Each entry in a PAM matrix indicates the likelihood of the amino acid of that row being replaced with the amino acid of that column through a series of one or more point accepted mutations during a specified evolutionary interval, rather than these two amino acids being aligned due to chance. (wikipedia.org)
  • If a point mutation occurs within an expressed region of a gene, an exon, then this will change the codon specifying a particular amino acid in the protein produced by that gene. (wikipedia.org)
  • Changing a single amino acid in a protein may reduce its ability to carry out this function, or the mutation may even change the function that the protein carries out. (wikipedia.org)
  • Consequently, acceptance of point mutations depends heavily on the amino acid being replaced in the mutation, and the replacement amino acid. (wikipedia.org)
  • The name of the point mutations indicates the position at which mutation has occurred, in this case the amino acid position 203 and which has been replaced, in this case a C = Cysteine with an R = Arginine. (wikipedia.org)
  • mutational
  • REPEAT-INDUCED point mutation (RIP) is a unique mutational process that occurs in the sexual cycle of Neurospora crassa during the dikaryotic stage between fertilization and karyogamy. (genetics.org)
  • premature
  • Stop-gain is a mutation that results in a premature termination codon (a stop was gained), which signals the end of translation. (wikipedia.org)
  • patients
  • Coexpression of the A53T and E46K mutations was unable to rescue MSA prion infection in vitro, establishing that MSA α-synuclein prions are conformationally distinct from the misfolded α-synuclein in PD patients. (pnas.org)
  • The usefulness of liquid biopsy to detect mutations from cancer patients has been well recognized today. (aacrjournals.org)
  • It has been shown that mutation of CEBPA has been linked to good outcome in both adult and pediatric acute myeloid leukemia patients. (wikipedia.org)
  • Mutation of the CEBPA gene has been shown to play a crucial role in leukemogenesis and prognosis in acute myeloid leukemia patients. (wikipedia.org)
  • In recent studies CEBPA mutations were found in between 7% and 15% of patients with acute myeloid leukemia. (wikipedia.org)
  • Patients with CEBPA mutations have longer remission duration and survival time than those without the mutations. (wikipedia.org)
  • Genomic
  • Genomic instability involves the accumulation of mutations and is a hallmark of neoplastic development in gastrointestinal malignancies such as colorectal carcinoma. (aacrjournals.org)
  • this technique is able to establish point mutations, gene deletions, and short sequence insertions in several genomic loci with increased efficiency and time sensitivity. (wikipedia.org)
  • results
  • The NGFB mutation in its heterozygous form results in a milder disease than in homozygots with a variable clinical picture, ranging from asymptomatic cases to those with Charcot arthropathy appearing in adult age. (bmj.com)
  • The results of such studies are the following: In most cases the mutation in the NF II gene causes shortened peptides. (wikipedia.org)
  • These results suggest that other factors (environment, other mutations) will probably determine the clinical outcome. (wikipedia.org)
  • result
  • If this change does not result in any significant physical disadvantage to the offspring, the possibility exists that this mutation will persist within the population. (wikipedia.org)
  • Indels can also be contrasted with Tandem Base Mutations (TBM), which may result from fundamentally different mechanisms. (wikipedia.org)
  • Through statistics, it is suspected that one-half of cases are inherited, and one-half are the result of new, de novo mutations. (wikipedia.org)
  • Mutations of NF II is presumed to result in either a failure to synthesize Merlin or the production of a defective peptide that lacks the normal tumor-suppressive effect. (wikipedia.org)
  • scientists
  • With FLEx mice scientists can reproduce a particular pathology that is triggered by a mutation and that normally manifests in adulthood. (genoway.com)
  • However
  • However, the acronym PAM was preferred over APM due to readability, and so the term point accepted mutation is used more regularly. (wikipedia.org)
  • However, 'PAM matrix' refers to one of a family of matrices which contain scores representing the likelihood of two amino acids being aligned due to a series of mutation events, rather than due to random chance. (wikipedia.org)
  • specific
  • We generated β-globin gene constructs with this mutation and an iron-responsive element in the 5′ untranslated region, which allowed specific experimental activation and inactivation of translation and, hence, NMD of this transcript. (bloodjournal.org)
  • type
  • MSA prions robustly infected wild-type, A30P, and A53T α-synuclein-YFP cells, but they were unable to replicate in cells expressing the E46K mutation. (pnas.org)
  • We recently described a family with neurological findings similar to HSAN (Hereditary sensory and autonomic neuropathy) type V having a point mutation in the Nerve growth factor beta (NGFB) gene. (bmj.com)
  • Authors note defects associated with cortical layers II/III and IV, especially in cortical neuronal migration (with respect to wild-type counterparts), showing that the S140G mutation has value as a model for detailing disease associated with the Human TUBA homolog. (wikipedia.org)
  • Many people with NF II were included in studies that were designed to compare disease type and progression with exact determination of the associated mutation. (wikipedia.org)
  • cause
  • A mutation of the human β-globin gene, which is a rare cause of β-positive thalassemia and which was first observed in a patient with homozygous β-thalassemia intermedia. (bloodjournal.org)
  • rates
  • There is a systematic difference in mutation rates for transitions (Alpha) and transversions (Beta). (wikipedia.org)
  • Other cases in which symbiont microevolution has a major effect on host ecological tolerance are likely to be widespread because of the high mutation rates of symbiotic bacteria and their crucial roles in host metabolism and development. (pubmedcentralcanada.ca)
  • mouse
  • Here we generate a series of knock-in mouse lines with corresponding mutations (D345H, F350C or R713Q) in the Sema4A gene and find that Sema4A(F350C) causes retinal degeneration phenotypes. (sigmaaldrich.com)
  • cancer
  • Combined with a new class of massively parallel DNA sequencing technologies or tiling microarrays for resequencing, we are screening colorectal cancer cell lines, primary tumor biopsies and paraffin embedded sections for point mutations. (aacrjournals.org)
  • amino acid
  • When cells were deprived of a certain amino acid, tryptophan, for prolonged periods of time, point mutations in trp operon reverted to tryptophan, leading to an advantageous result, more frequently than under normal conditions when the mutations were neutral. (wikipedia.org)
  • In addition, the tryptophan mutation rate was unaffected when the cells were deprived of another amino acid, cysteine, further suggesting that the mutation rate was specific to situations in which the mutation was advantageous. (wikipedia.org)
  • Conservative mutations result in an amino acid change. (wikipedia.org)
  • A point accepted mutation - also known as a PAM - is the replacement of a single amino acid in the primary structure of a protein with another single amino acid, which is accepted by the processes of natural selection. (wikipedia.org)
  • Each entry in a PAM matrix indicates the likelihood of the amino acid of that row being replaced with the amino acid of that column through a series of one or more point accepted mutations during a specified evolutionary interval, rather than these two amino acids being aligned due to chance. (wikipedia.org)
  • If a point mutation occurs within an expressed region of a gene, an exon, then this will change the codon specifying a particular amino acid in the protein produced by that gene. (wikipedia.org)
  • Changing a single amino acid in a protein may reduce its ability to carry out this function, or the mutation may even change the function that the protein carries out. (wikipedia.org)
  • Consequently, acceptance of point mutations depends heavily on the amino acid being replaced in the mutation, and the replacement amino acid. (wikipedia.org)
  • The name of the point mutations indicates the position at which mutation has occurred, in this case the amino acid position 203 and which has been replaced, in this case a C = Cysteine with an R = Arginine. (wikipedia.org)
  • mutational
  • REPEAT-INDUCED point mutation (RIP) is a unique mutational process that occurs in the sexual cycle of Neurospora crassa during the dikaryotic stage between fertilization and karyogamy. (genetics.org)
  • premature
  • Stop-gain is a mutation that results in a premature termination codon (a stop was gained), which signals the end of translation. (wikipedia.org)
  • patients
  • Coexpression of the A53T and E46K mutations was unable to rescue MSA prion infection in vitro, establishing that MSA α-synuclein prions are conformationally distinct from the misfolded α-synuclein in PD patients. (pnas.org)
  • The usefulness of liquid biopsy to detect mutations from cancer patients has been well recognized today. (aacrjournals.org)
  • It has been shown that mutation of CEBPA has been linked to good outcome in both adult and pediatric acute myeloid leukemia patients. (wikipedia.org)
  • Mutation of the CEBPA gene has been shown to play a crucial role in leukemogenesis and prognosis in acute myeloid leukemia patients. (wikipedia.org)
  • In recent studies CEBPA mutations were found in between 7% and 15% of patients with acute myeloid leukemia. (wikipedia.org)
  • Patients with CEBPA mutations have longer remission duration and survival time than those without the mutations. (wikipedia.org)
  • Genomic
  • Genomic instability involves the accumulation of mutations and is a hallmark of neoplastic development in gastrointestinal malignancies such as colorectal carcinoma. (aacrjournals.org)
  • this technique is able to establish point mutations, gene deletions, and short sequence insertions in several genomic loci with increased efficiency and time sensitivity. (wikipedia.org)
  • results
  • The NGFB mutation in its heterozygous form results in a milder disease than in homozygots with a variable clinical picture, ranging from asymptomatic cases to those with Charcot arthropathy appearing in adult age. (bmj.com)
  • The results of such studies are the following: In most cases the mutation in the NF II gene causes shortened peptides. (wikipedia.org)
  • These results suggest that other factors (environment, other mutations) will probably determine the clinical outcome. (wikipedia.org)
  • result
  • If this change does not result in any significant physical disadvantage to the offspring, the possibility exists that this mutation will persist within the population. (wikipedia.org)
  • Indels can also be contrasted with Tandem Base Mutations (TBM), which may result from fundamentally different mechanisms. (wikipedia.org)
  • Through statistics, it is suspected that one-half of cases are inherited, and one-half are the result of new, de novo mutations. (wikipedia.org)
  • Mutations of NF II is presumed to result in either a failure to synthesize Merlin or the production of a defective peptide that lacks the normal tumor-suppressive effect. (wikipedia.org)
  • scientists
  • With FLEx mice scientists can reproduce a particular pathology that is triggered by a mutation and that normally manifests in adulthood. (genoway.com)
  • However
  • However, the acronym PAM was preferred over APM due to readability, and so the term point accepted mutation is used more regularly. (wikipedia.org)
  • However, 'PAM matrix' refers to one of a family of matrices which contain scores representing the likelihood of two amino acids being aligned due to a series of mutation events, rather than due to random chance. (wikipedia.org)
  • specific
  • We generated β-globin gene constructs with this mutation and an iron-responsive element in the 5′ untranslated region, which allowed specific experimental activation and inactivation of translation and, hence, NMD of this transcript. (bloodjournal.org)
  • type
  • MSA prions robustly infected wild-type, A30P, and A53T α-synuclein-YFP cells, but they were unable to replicate in cells expressing the E46K mutation. (pnas.org)
  • We recently described a family with neurological findings similar to HSAN (Hereditary sensory and autonomic neuropathy) type V having a point mutation in the Nerve growth factor beta (NGFB) gene. (bmj.com)
  • Authors note defects associated with cortical layers II/III and IV, especially in cortical neuronal migration (with respect to wild-type counterparts), showing that the S140G mutation has value as a model for detailing disease associated with the Human TUBA homolog. (wikipedia.org)
  • Many people with NF II were included in studies that were designed to compare disease type and progression with exact determination of the associated mutation. (wikipedia.org)
  • cause
  • A mutation of the human β-globin gene, which is a rare cause of β-positive thalassemia and which was first observed in a patient with homozygous β-thalassemia intermedia. (bloodjournal.org)
  • rates
  • There is a systematic difference in mutation rates for transitions (Alpha) and transversions (Beta). (wikipedia.org)
  • Other cases in which symbiont microevolution has a major effect on host ecological tolerance are likely to be widespread because of the high mutation rates of symbiotic bacteria and their crucial roles in host metabolism and development. (pubmedcentralcanada.ca)
  • mouse
  • Here we generate a series of knock-in mouse lines with corresponding mutations (D345H, F350C or R713Q) in the Sema4A gene and find that Sema4A(F350C) causes retinal degeneration phenotypes. (sigmaaldrich.com)
  • cancer
  • Combined with a new class of massively parallel DNA sequencing technologies or tiling microarrays for resequencing, we are screening colorectal cancer cell lines, primary tumor biopsies and paraffin embedded sections for point mutations. (aacrjournals.org)