• It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. (haematologica.org)
  • This study aimed to elucidate the true effects of 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study in von Willebrand disease, and compare the findings with in silico prediction. (haematologica.org)
  • More recently, mutations of sodium channel Nav1.9 have been linked to human pain disorders, with two gain-of-function mutations found in patients with painful small fiber neuropathy. (springer.com)
  • TMZ-induced TP53 gain-of-function mutations can have a driving role in secondary gliosarcoma pathogenesis. (oncotarget.com)
  • Importantly, while in most cases CDH1 alterations result in the complete loss of E-cadherin associated with a well-established clinical impact, in about 20% of cases the mutations are of the missense type. (mdpi.com)
  • Finally, clinical data from patients with FXNG130V and FXNI154F mutations demonstrates a lower severity compared with other individuals with Friedreich ataxia. (curefa.org)
  • These data suggest that the effects on processing associated with FXNG130V and FXNI154F mutations lead to higher levels of partially processed FXN, which may contribute to the milder clinical phenotypes in these patients. (curefa.org)
  • However, increasing reports indicate that some MECP2 mutations may also present various neuropsychiatric phenotypes, including intellectual disability, autism spectrum disorder, depression, cocaine addiction, and schizophrenia in both males and females, suggesting varied clinical expressivity in some MECP2 mutations. (frontiersin.org)
  • However, there is an increasing appreciation that the clinical presentations of MECP2 mutations are not limited to typical Rett syndrome. (frontiersin.org)
  • These neuropsychiatric manifestations were found in both male and female patients, indicating MECP2 mutations have a high level of clinical heterogeneity. (frontiersin.org)
  • This case, with clinical data including the water deprivation test and P173L mutation, will facilitate understanding the structure and function of the AVPR2. (degruyter.com)
  • Here we report a very late onset adult MLD patient with no clinical or neurophysiological evidence of peripheral neuropathy, who is a compound heterozygote for two previously unreported missense mutations in the ASA gene. (bmj.com)
  • 1 MECP2 mutations are now associated with a widening range of clinical presentations, including Angelman syndrome and X linked and non-specific mental retardation. (bmj.com)
  • Different types of KCC3 mutations may determine different clinical phenotypes. (uni-regensburg.de)
  • A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). (nih.gov)
  • The G1571R mutation is of particular interest as mutations of the orthologous residue (G1306) in the human skeletal muscle sodium channel gene SCN4A are associated with cases of periodic paralysis and myotonia, including the human cold-sensitive disorder paramyotonia congenita . (genetics.org)
  • A study of a novel R133W β-tropomyosin mutation on regulation of skeletal muscle contraction in the skinned single fiber prepration and single fiber in vitro motility assay suggested that the mutation induced alteration in myosin-actin kinetics causing a reduced number of myosin molecules in the strong actin binding state, resulting in overall muscle weakness in the absence of muscle wasting. (diva-portal.org)
  • 1. Missense mutations in the alpha-subunit of the human skeletal muscle sodium channel (hSkM1) have been detected in some heritable forms of myotonia. (semanticscholar.org)
  • Berger R, Faassen H van, Taanman JW, Vries H de, Agsteribbe E (1988) Different types of mutations in the chronic and acute forms of type I tyrosinemia (abstract). (springer.com)
  • It isn't possible to say which of the two types of mutations would be more harmful to an organism as both forms affect the functioning of proteins in organisms in adverse ways and result in serious ailments. (enotes.com)
  • Can someone please explain what types of mutations that affect chromosomes are least likely to be. (enotes.com)
  • We identified six rare missense mutations in this sample, including T197M in one male patient and two female controls, L201V in nine patients (three males and six females) and 4 controls (three females and one male), L213V in one female patient, A358T in one male patient and one female control, P376S in one female patient, and P419S in one male patient. (frontiersin.org)
  • 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)
  • Coding-region single-nucleotide polymorphisms 7 (cSNPs) within exonic splicing enhancers or silencers may affect the patterns or efficiency of mRNA splicing, which may in turn cause phenotypic variability and variable penetrance of mutations elsewhere in a gene. (nature.com)
  • Tumor-Associated Mutations in Caspase-6 Negatively Impact Catalytic Efficiency. (umassmed.edu)
  • Here, we report that new Cer-RUB nanomicelles considerably enhance Cer in-vivo bioavailability and restore p53-dependent tumor suppression in cancer cells carrying a p53 missense mutation. (aacrjournals.org)
  • Intriguingly, Cer-RUB nanomicelle treatments restored p53-dependent tumor suppression and sensitivity to cisplatin in OVCAR-3 ovarian cancer cells and xenograft tumors carrying p53 R248Q mutation. (aacrjournals.org)
  • With the work presented in this thesis we aimed to understand how Axin missense mutations deregulate Wnt signaling and contribute to tumor development. (uu.nl)
  • Also, the SMN(A2G) and SMN(A111G) alleles in vivo did not complement each other leading to the possibility that these mutations could affect the same function. (nih.gov)
  • We have now determined the mutations on both alleles of a child with fulminant, neonatal onset ADA- SCID and accumulation of extremely high concentrations of deoxyATP. (jimmunol.org)
  • To date, mouse models carry Fbxw7 null alleles, but these do not faithfully recapitulate the mutations most commonly present in human cancers. (bmj.com)
  • 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)
  • PI3-kinase mutation linked to insulin and growth factor resistance in vivo. (umassmed.edu)
  • Several activating mutations in the cKIT receptor tyrosine kinase are associated with the development and progression of gastrointestinal stromal tumors (GIST). (aacrjournals.org)
  • Oncogenic mutations in the transmembrane receptor tyrosine kinase (RTK) cKIT are implicated as an important event in the pathogenesis of up to 90% of all GIST ( 2 , 3 ) and are also associated with the development of mast cell leukemia ( 4 ) and testicular seminoma ( 5 ). (aacrjournals.org)
  • Numerous reports have described unique mutations in cKIT, which cause constitutive activation of the cKIT kinase domain ( 6 ). (aacrjournals.org)
  • The response profile is created for 6 ATP-competitive, reversible inhibitors against 9, 17, 5 and 17 GC-associated missense mutations of ErbB1, ErbB2, ErbB3 and ErbB4 kinase domains, respectively. (medworm.com)
  • It is suggested that most ErbB mutations have only a modest effect on inhibitor binding, but few that are located around the kinase active site can influence the binding significantly. (medworm.com)
  • These mutations are scattered throughout the kinase domain in a pattern similar to that described in gastrointestinal stromal tumors (GISTs), except that mis-sense mutations are predominant and deletions and insertion/duplications are rare. (thefreedictionary.com)
  • However, a paucity of appropriate animal models has slowed our understanding both of the interaction and of how mutations of residues within the predicted interface compromise tip link integrity. (jneurosci.org)
  • Further investigation, however, is needed to determine whether VSX1 mutations found in disease populations are in fact causative for corneal dystrophies. (arvojournals.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)
  • Analysis of mouse lines with MMR missense mutations demonstrates that these MMR functions can be separated and allows the assessment of their individual roles in tumour suppression. (portlandpress.com)