Results 131 to 140 of about 640,277 (286)
Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi +10 more
wiley +1 more source
Rescuing TP53 from nonsense: novel triazoles for translational readthrough via optimized drug design
Scientific ReportsNonsense mutations introduce premature termination codons (PTCs), leading to mRNA degradation and the production of truncated, non-functional proteins.
Davide Ricci +7 more
doaj +1 more source
A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant
Animal Models and Experimental Medicine, EarlyView.Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund +7 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate +34 more
wiley +1 more source
How stop codon pseudouridylation induces nonsense suppression
, 2021 Nonsense mutation can be an inherited disorder or caused by genetic mutation under certain conditions such as stress or exposure. Nonsense suppression, can have a broad potential as a therapeutic approach to nonsense mutation.
Monajemi, Hadieh, Zain, Sharifuddin M.
core
, 2008 This trail at the park allows visitors the opportunity to walk the outline of the redoubt to get an idea of the size and shape of the structure.Original file name Fort Nonsense 3 ...
Beards, Daniel E.
core +1 more source
Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak
Animal Research and One Health, EarlyView.Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan +15 more
wiley +1 more source