OBJECTIVE Nonsense mutations account for 5-70% of all genetic disorders. In the United States, nonsense mutations in the CLN1/PPT1 gene underlie >40% of the patients with infantile neuronal ceroid lipofuscinosis (INCL), a devastating neurodegenerative lysosomal storage disease. We sought to generate a reliable mouse model of INCL carrying the most common Ppt1 nonsense mutation (c.451C>T) found ...

Cystic fibrosis (CF) is the most common, lethal inherited disorder in the Caucasian population. We have recently reported two African-American patients with nonsense mutations in each CF gene and severe pancreatic disease, but mild pulmonary disease. In order to examine the effect of these nonsense mutations on CF gene expression, bronchial and nasal epithelial cells were obtained from one of t...

BACKGROUND Nonsense mutations in the X-linked methyl CpG-binding protein 2 (MECP2) comprise a significant proportion of causative MECP2 mutations in Rett syndrome (RTT). Naturally occurring aminoglycosides, such as gentamicin, have been shown to enable partial suppression of nonsense mutations related to several human genetic disorders, however, their clinical applicability has been compromised...

Nonsense mutations of the beta-globin gene are a common cause of beta-thalassemia. It is a hallmark of these mutations not only to cause a lack of protein synthesis but also a reduction of mRNA expression. Both the pathophysiologic significance and the underlying mechanisms for this surprising phenomenon have so far remained enigmatic. We report that the reduction of the fully spliced mutant be...

BACKGROUND Nonsense mutations in FAM83H are a recently described underlying cause of autosomal dominant (AD) hypocalcified amelogenesis imperfecta (AI). OBJECTIVE This study aims to report a novel c.1374C>A p.Y458X nonsense mutation and describe the associated ultrastructural phenotype of deciduous teeth. METHODS A family of European origin from the Iberian Peninsula with AD-inherited AI wa...

Objective(s): Haemostasis prevents blood loss following vascular injury. It depends on the unique concert of events involving platelets and specific blood proteins, known as coagulation factors. The clotting system requires precise regulation and coordinated reactions to maintain the integrity of the vasculature. Clotting insufficiency mostly occurs due to genetically inherited coagulation fact...

This article discusses the prevailing debate regarding phenomenon of ‘nonsense’ lyrical meaning Asmalibrasi, a song released in 2020 by Soegi Bornean, scope audience reception analysis. The analysis focuses on how audiences interpret process making and they perceive aesthetic amidts backlash to its which is deemed as meaningless nonsense. research used qualitative approach collected data throug...

In testing the hypothesis that surface phonetic form is included in short-term memory (STM) representation, the tone sandhi phenomenon in Mandarin Chinese was exploited, and, as a prerequisite, the hypothesis that tonal similarity affects STM of verbal material in a tone language was also tested. In Experiment 1, subjects recalled visually presented sequences of seven monosyllabic Chinese morph...

Nonsense-mediated mRA decay (NM) is an importt mRA surveilance mechanism conserved in eukaryotes. This thesis explores several interesting aspects of the NM pathway. One importnt aspect of NM which is presently the subject of intense controversy is the subcellular localization ofNM. In one set of experients, the decay kinetics of the ade2and pgkl nonsense mRAs (substrates for NM) were investiga...