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  • Coexpression
  • 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)
  • No K(ATP) channel activity was observed in beta-cells isolated from a homozygous patient or after coexpression of recombinant Kir6.2 and SUR1 carrying the V187D mutation. (diabetesjournals.org)
  • phenotype
  • The goal of such comparisons of genotype and phenotype is to determine whether specific mutations cause respective combinations of symptoms. (wikipedia.org)
  • locus
  • The FLEx mutation is expressed from the endogenous locus and can therefore be regulated physiologically. (genoway.com)
  • Variants
  • Davidson B.L., Palella T.D., Fujimori S., Kelley W.N. (1989) Structural Consequences of Point Mutations in Nine Human HPRT Variants. (springer.com)
  • Kuivaniemie H, Kontusaari S, Tromp G, Zhao M, Sabol C, Prockop DJ (1990) Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome IV. (springer.com)
  • therefore
  • 11 Constructs based on this mutation should therefore express high levels of incorrectly spliced mRNAs with PTCs in phase-shifted ORFs. (bloodjournal.org)
  • Therefore, the presence of CEBPA mutations are directly associated with a more favorable course for the progression of the disease. (wikipedia.org)
  • single
  • This mutation arose and was fixed twice in sublines derived from a single female aphid in the lab and kept at constant 20 °C. Experiments using aphid lines that differed only in the presence of this Buchnera mutation revealed that it eliminates the ibpA transcriptional response to heat shock and affects ibpA expression at low temperatures. (pubmedcentralcanada.ca)
  • pathology
  • With FLEx mice scientists can reproduce a particular pathology that is triggered by a mutation and that normally manifests in adulthood. (genoway.com)
  • homozygous
  • 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)
  • result
  • In addition, mutations can result from duplication of a gene segment or from insertion of duplicated DNA into a gene. (genetics.org)
  • 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)
  • 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)
  • Mwk mice harbor a gain-of-function mutation (T635A) in the Trpc3 gene encoding the nonselective transient receptor potential cation channel, type C3 (TRPC3), resulting in altered TRPC3 channel gating. (pnas.org)
  • Here, we report that a point mutation (T635A) in the C3-type transient receptor potential (TRPC3) channel in the mouse results in Purkinje cell degeneration and cerebellar ataxia. (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)
  • thus
  • A mutation thus revealed the presence of an unknown cis -acting determinant that influences the NMD sensitivity of a putative NMD substrate. (bloodjournal.org)