None of the reported patients deceased. “Tx” indicates timepoint of transplantation in color coding. Note that four patients (No. 35, 36, 37, 41) did not have suitable documented visits for cross-sectional analysis. Full size image
“I think it is good to have an information course prior, like the online education course, just to learn what an EPA is before the new concept arrives” (R7) Several respondents pointed out a need for course specific details, as well as general information. “I think the course leader ...
R.H. assisted with coding design and paper structure. All authors contributed to the revision of the paper and approved the final version for publication. Corresponding author Correspondence to Paul Hager. Ethics declarations Competing interests The authors declare no competing interests....
The classification of a coding VUS should ultimately rely on the characterization of the protein’s function. Although, functional testing of an enzyme may be relatively straightforward, complex processes such as homologous recombination requires the assembly and concerted effort of several factors. As ...
(n = 2,217 cases and 14,240 controls), and accelerometer-derived measures of sleep efficiency and sleep duration in the UK Biobank (n = 83,726). Our results suggest enrichment of genes involved in ubiquitin-mediated proteolysis and of genes expressed in multiple brain regions, ...
Coding will involve grouping participants’ responses into categories that bring together similar ideas, concepts, or themes. Patterns will be derived by comparing responses to themes and examining how themes are interacting with each other. Methods in analysis to handle protocol non-adherence and any...
Transformative Technologies in Healthcare, Translational Research, tyrosine decarboxylases, Ubiquitin, Ubiquitinylation, Unfolded Protein Response (UPR), Universal Immune Cell Therapies (uICT), Variation in human protein-coding regions, Vascular Diseases, Water Transpo...
One-year follow up of asthmatic patients newly initiated on treatment with medium- or high-dose inhaled corticosteroid-long-acting β2-agonist in UK primary care settings. Respir Med. 2020;162:105859. doi:10.1016/j.rmed.2019.105859PubMedGoogle Scholar 4. Cloutier MM, Baptist AP,...
RESULTS USH2A retinopathy is a major cause of adult-onset recessive retinal degeneration In the discovery cohort (n = 186), a total of 206 different sequence alterations were recorded in the exons and intron–exon boundaries of USH2A; 88 variants were missense, coding insertions/deletions or ...
is located on the long arm of chromosome 7 at 7q31.2 and contains 27 coding exons spread over 230 kb.5 Its normal allele produces a 6.5-kb mRNA that encodes CFTR, a 1480-amino acid integral membrane protein that functions as a regulated chloride channel in a variety of epithelial cells....