Results 161 to 170 of about 199,160 (290)
Nonsense mutation-dependent reinitiation of translation in mammalian cells
Nucleic Acids Research, 2019 In-frame stop codons mark the termination of translation. However, post-termination ribosomes can reinitiate translation at downstream AUG codons.
Sarit Cohen +5 more
semanticscholar +1 more source
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs. [PDF]
, 2017 Inherited retinal dystrophies are an important cause of blindness, for which currently there are no effective treatments. In order to study this heterogeneous group of diseases, adequate disease models are required in order to better understand pathology
Carr, Amanda-Jayne F +12 more
core +1 more source
Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?
Aging Cell, EarlyView.Cockayne Syndrome complementation group B (CS‐B) is a highly debilitating progeroid syndrome that often culminates in the death of patients before adulthood. This review explores the pathogenesis of CS‐B and proposes that a combination of DNA damage accumulation, transcriptional dysregulation, and mitochondrial dysfunction is its underlying cause ...
Ricardo Afonso‐Reis +3 more
wiley +1 more source
Two Amino Acid Residues Contribute to a Cation-π Binding Interaction in the Binding Site of an Insect GABA Receptor [PDF]
, 2011 Cys-loop receptor binding sites characteristically possess an "aromatic box," where several aromatic amino acid residues surround the bound ligand. A cation-π interaction between one of these residues and the natural agonist is common, although the ...
Ashby, Jamie A. +3 more
core
Cryptorchidism: Novel genetic insights into CCDC149 mutations
Andrology, EarlyView.Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du +8 more
wiley +1 more source
A Novel UPF1 Variant Associated With a Rare UPF1‐Related Neurodevelopmental Disorder
Clinical Genetics, EarlyView.Nonsense‐mediated mRNA decay (NMD) plays a crucial role in degrading aberrant transcripts with premature termination codons, and aberrant NMD has been linked to neurodevelopmental disorders (NDD). A key player of NMD is UPF1, which is a helicase. Including the current patient, only four individuals with NDD and UPF1 variants have been reported in the ...
Zeynep Tümer +4 more
wiley +1 more source
RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants
Clinical Genetics, EarlyView.Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs +10 more
wiley +1 more source
Clinical Genetics, EarlyView.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source
Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome
Clinical Genetics, EarlyView.Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato +15 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Chromatin machinery influences how DNA is ‘wrapped’ around histones in the nucleosome of immune and brain cells. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16299 Abstract We report eight children with de novo pathogenic DNA variants in chromatin‐related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B.
Russell C. Dale +14 more
wiley +1 more source