Results 71 to 80 of about 1,404,124 (275)
Strategies against nonsense: oxadiazoles as translational readthrough-inducing drugs (TRIDs) [PDF]
, 2019 This review focuses on the use of oxadiazoles as translational readthrough-inducing drugs (TRIDs) to rescue the functional full-length protein expression in mendelian genetic diseases caused by nonsense mutations.
Campofelice A. +6 more
core +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo +4 more
doaj
Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia. [PDF]
PLoS ONE, 2018 Tooth agenesis is one of the most common craniofacial disorders in humans. More than 350 genes have been associated with teeth development. In this study, we enrolled 60 child patients (age 13 to 17) with various types of tooth agenesis.
Ondřej Bonczek +9 more
doaj +1 more source
A novel mutation in SACS gene in a family from southern Italy [PDF]
, 2004 A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S +10 more
core
, 2012 Mutations in the human ether-a-go-go-related gene (hERG) result in long QT syndrome type 2 (LQT2). The hERG gene encodes a K+ channel that contributes to the repolarization of the cardiac action potential.
Gong, Qiuming +3 more
core +1 more source
BMC Cancer, 2015 BackgroundPrevious study showed that mitochondrial ND6 (mitND6) gene missense mutation resulted in NADH dehydrogenase deficiency and was associated with tumor metastasis in several mouse tumor cell lines.
Yang Yuan +6 more
semanticscholar +1 more source
Trp64—-nonsense mutation in the lipoprotein lipase gene.
Journal of Lipid Research, 1992 A lipoprotein lipase (LpL) gene defect has been identified, a G----A transition at nucleotide position 446 of exon 3, resulting in a premature termination codon (Trp----stop) at amino acid residue 64. This defect was identified in a Type I hyperlipoproteinemic subject with an amino acid residue 194 defect in the other allele.
R L Yunker +9 more
openaire +4 more sources
Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia [PDF]
, 2012 Hereditary haemorrhagic telangiectasia (HHT) is a disease characterised by abnormal vascular structures, and most commonly caused by mutations in ENG, ACVRL1 or SMAD4 encoding endothelial cell-expressed proteins involved in TGF-β superfamily signalling ...
Begbie, ME +6 more
core +1 more source
Haematologica, 2010 Background The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene.
Achille Iolascon +8 more
doaj +1 more source
A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2018 X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate ...
Misun Yang +6 more
doaj +1 more source