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  • Functional
  • Previously, we quantified the effects of missense mutations on the thermodynamic stability of the BRCT domains, and we showed that many are so destabilizing that the folded functional state is drastically depopulated at physiological temperature. (sigmaaldrich.com)
  • profound
  • We found that all of the mutations, regardless of how profound their destabilizing effects, retained some DNA repair activity and thereby partially rescued the chicken BRCA1 knockout. (sigmaaldrich.com)
  • contrast
  • By contrast, the mutation R1699L, which disrupts the binding of phosphorylated proteins (but which is not destabilizing), was completely inactive. (sigmaaldrich.com)
  • allele
  • Both 1100delC and R145W germ-line mutations in CHK2 are associated with loss of the wild-type allele in the corresponding tumor specimens, and neither tumor harbors a somatic TP53 mutation. (sigmaaldrich.com)
  • Typical patients carry GAA repeat expansions on both alleles, while a subgroup of patients carry a missense mutation on one allele and a GAA repeat expansion on the other. (curefa.org)
  • mitochondrial
  • The association of CPEO and parkinsonism/dementia with subclinical optic neuropathy widens the phenotypic spectrum of OPA1 mutations, highlighting the association of defective mitochondrial dynamics, mtDNA multiple deletions, and altered mitophagy with parkinsonism. (nih.gov)
  • demonstrates
  • Finally, clinical data from patients with FXNG130V and FXNI154F mutations demonstrates a lower severity compared with other individuals with Friedreich ataxia. (curefa.org)
  • These observations show that the domain II S4-S5 linker plays an important role in the gating of Nav1.9 and demonstrates that a mutation in this linker is linked to a common pain disorder. (springer.com)
  • Variants
  • In that context, our group has contributed to better characterize CDH1 germline missense variants and is now considered a worldwide reference centre. (mdpi.com)
  • mechanism
  • Our results suggest extracellular missense mutations as a novel mechanism for oncogenic EGFR activation and may help identify patients who can benefit from EGFR kinase inhibitors for treatment of glioblastoma. (nih.gov)
  • however, the mechanism of dysfunction of these mutations, more than half of which are missense changes, has not been thoroughly investigated. (sigmaaldrich.com)
  • kinase
  • In a kindred with LFS without an inherited TP53 mutation, we have previously reported a truncating mutation (1100delC) in CHK2, encoding a kinase that phosphorylates p53 on Ser(20). (sigmaaldrich.com)
  • decrease
  • The group found that FXNI154F and FXNG130V missense mutations decrease FXN 81-210 levels compared with FXNWT, FXNR165C, and FXNW155R, but do not block its association with mitochondria. (curefa.org)
  • A mutation that causes a decrease in or elimination of a gene product's activity. (bioportfolio.com)
  • Additionally, we demonstrate an altered mobility and a decrease in the levels of fully assembled complex I in the patient's fibroblasts and cybrids, suggesting that the mutation has a profound effect on complex I assembly and/or stability. (wiley.com)
  • defective
  • In mice, the mutation results in defective synaptic transmission characterized by a slower recovery from depression after trains of stimulation. (sigmaaldrich.com)
  • enzyme
  • 2014) A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. (els.net)
  • They failed to produce active enzyme toward either substrate upon transfection into COS-1 cells, demonstrating that these mutations caused CAH. (uniprot.org)
  • interaction
  • Functionally, we show for the first time that this mutation impairs HR by disrupting the RAD51D-XRCC2 interaction and confers PARP-inhibitor sensitivity. (aacrjournals.org)
  • results
  • Our results imply that a mutation of the TLR3 gene could be one of the factors responsible for influenza-associated encephalopathy. (nih.gov)
  • patient
  • Fibroblasts isolated from an Amyotrophic Lateral Sclerosis (ALS)-patient carrying a mutation in Matrin-3 (p.Q66K -MATR3) gene were reprogrammed to the pluripotency stage by using non-integrating episo. (bioportfolio.com)
  • In order to find possible mutation in CLCN1 gene, blood sample was collected from the patient after informed consent was obtained according to the protocol approved by the local institutional review board. (thefreelibrary.com)
  • A missense mutation of the Toll-like receptor 3 gene in a patient with influenza-associated encephalopathy. (nih.gov)