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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for
classifying variants based on several benign and pathogenic evidence criteria, including a …
classifying variants based on several benign and pathogenic evidence criteria, including a …
Functional translational readthrough: a systems biology perspective
F Schueren, S Thoms - PLoS genetics, 2016 - journals.plos.org
Translational readthrough (TR) has come into renewed focus because systems biology
approaches have identified the first human genes undergoing functional translational …
approaches have identified the first human genes undergoing functional translational …
A short translational ramp determines the efficiency of protein synthesis
Translation initiation is a major rate-limiting step for protein synthesis. However, recent
studies strongly suggest that the efficiency of protein synthesis is additionally regulated by …
studies strongly suggest that the efficiency of protein synthesis is additionally regulated by …
N-terminal proteoforms in human disease
A Bogaert, E Fernandez, K Gevaert - Trends in Biochemical Sciences, 2020 - cell.com
The collection of chemically different protein variants, or proteoforms, by far exceeds the
number of protein-coding genes in the human genome. Major contributors are alternative …
number of protein-coding genes in the human genome. Major contributors are alternative …
Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting
C Fritsch, A Herrmann, M Nothnagel… - Genome …, 2012 - genome.cshlp.org
So far, the annotation of translation initiation sites (TISs) has been based mostly upon
bioinformatics rather than experimental evidence. We adapted ribosomal footprinting to …
bioinformatics rather than experimental evidence. We adapted ribosomal footprinting to …
Quantitative analysis of mammalian translation initiation sites by FACS‐seq
WL Noderer, RJ Flockhart, A Bhaduri… - Molecular systems …, 2014 - embopress.org
An approach combining fluorescence‐activated cell sorting and high‐throughput DNA
sequencing (FACS‐seq) was employed to determine the efficiency of start codon recognition …
sequencing (FACS‐seq) was employed to determine the efficiency of start codon recognition …
[HTML][HTML] Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-α-acetylation features
N-terminal modifications play a major role in the fate of proteins in terms of activity, stability,
or subcellular compartmentalization. Such modifications remain poorly described and badly …
or subcellular compartmentalization. Such modifications remain poorly described and badly …
[HTML][HTML] N-terminal proteomics and ribosome profiling provide a comprehensive view of the alternative translation initiation landscape in mice and men
P Van Damme, D Gawron, W Van Criekinge… - Molecular & Cellular …, 2014 - Elsevier
Usage of presumed 5′ UTR or downstream in-frame AUG codons, next to non-AUG codons
as translation start codons contributes to the diversity of a proteome as protein isoforms …
as translation start codons contributes to the diversity of a proteome as protein isoforms …
Nongenomic thyroid hormone signaling occurs through a plasma membrane–localized receptor
H Kalyanaraman, R Schwappacher, J Joshua… - Science …, 2014 - science.org
Thyroid hormone (TH) is essential for vertebrate development and the homeostasis of most
adult tissues, including bone. TH stimulates target gene expression through the nuclear …
adult tissues, including bone. TH stimulates target gene expression through the nuclear …
Cx43 isoform GJA1-20k promotes microtubule dependent mitochondrial transport
Connexin 43 (Cx43, encoded by GJA1) is a cell-cell communication gap junction protein
expressed in all organ systems. It was recently found that GJA1 mRNA undergoes …
expressed in all organ systems. It was recently found that GJA1 mRNA undergoes …