Results 81 to 90 of about 435,524 (391)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
What is a "Sebastian"?: A nonsensical look at the poetry of Yona Wallach
The European Journal of Humour Research, 2017 This article compares the nonsense works of Lewis Carroll to the poetry of the canonical Hebrew poet Yona Wallach. Both writers present literary works which are not based on the logic of 'ordinary' reality, but rather on systems of unfamiliar, surreal ...
Ailor Porat
doaj +1 more source
Sententiae, 2020 Review of Kuusela, O. (2019). Wittgenstein on Logic as the Method of Philosophy. Re-examining the Roots and Development of Analytic Philosophy. Oxford: Oxford UP.
Anna Laktionova
doaj +1 more source
FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei. [PDF]
, 2018 Mutations in FARS2, the gene encoding the mitochondrial phenylalanine-tRNA synthetase (mtPheRS), have been linked to a range of phenotypes including epileptic encephalopathy, developmental delay, and motor dysfunction.
Au, Margaret G +6 more
core +2 more sources
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy [PDF]
, 2023 Caterina Micolonghi +15 more
openalex +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
An Engineered Nonsense \u3cem\u3eURA3\u3c/em\u3e Allele Provides a Versatile System to Detect the Presence, Absence and Appearance of the [em\u3ePSI\u3c/em\u3e\u3csup\u3e+\u3c/sup\u3e] Prion in \u3cem\u3eSaccharomyces cerevisiae\u3c/em\u3e [PDF]
, 2006 Common methods to identify yeast cells containing the prion form of the Sup35 translation termination factor, [PSI+], involve a nonsense suppressor phenotype. Decreased function of Sup35p in [PSI+] cells leads to readthrough of certain nonsense mutations
Kirkland, Kathryn T. +2 more
core +1 more source
Reducing Audible Spectral Discontinuities [PDF]
, 2001 In this paper, a common problem in diphone synthesis is discussed, viz., the occurrence of audible discontinuities at diphone boundaries. Informal observations show that spectral mismatch is most likely the cause of this phenomenon.We first set out to ...
Klabbers, Esther, Veldhuis, Raymond
core +2 more sources
BMC Cancer, 2019 Nonsynonymous mutations change the protein sequences and are frequently subjected to natural selection. The same goes for nonsense mutations that introduce pre-mature stop codons into CDSs (coding sequences).
Duan Chu, Lai Wei
semanticscholar +1 more source
Molecular Therapy: Methods & Clinical Development, 2020 Nonsense-mediated decay (NMD) is a major pathogenic mechanism underlying a diversity of genetic disorders. Nonsense variants tend to lead to more severe disease phenotypes and are often difficult targets for small molecule therapeutic development as a ...
S. Erwood +6 more
semanticscholar +1 more source