1. INTRODUCTION Voltage‐gated sodium (Na+) channels are responsible for action potential generation and propagation in excitable tissues. Of the nine Na + channel α subunit genes, at least four ( SCN1A, 2A, 3A , and 8A ) are expressed in brain, and pathogenic variation in each br…
Abstract Knowledge on the genetic epidemiology of disorders in the dog population has implications for both veterinary medicine and sustainable breeding. Limited data on frequencies of genetic disease variants across breeds exists, and the disease heritage of mixed breed dogs rem…
Abstract Mendelian randomization-Egger (MR-Egger) is an analysis method for Mendelian randomization using summarized genetic data. MR-Egger consists of three parts: (1) a test for directional pleiotropy, (2) a test for a causal effect, and (3) an estimate of the causal effect. Wh…
Unicode Locale Data Markup Language (LDML) Technical Reports Unicode Technical Standard #35 Unicode Locale Data Markup Language (LDML) Version 44 Editors Mark Davis ( markdavis@google.com ) and other CLDR committee members Date 2023-10-25 This Version Previous Version Latest Vers…
Compliance with ethical regulations and informed consent This research has been conducted using the UK Biobank Resource under Application Number 24983, “Generating effective therapeutic hypotheses from genomic and hospital linkage data” ( http://www.ukbiobank.ac.uk/wp-content/upl…
Abstract Clinical challenges exist in reducing prostate cancer (PCa) disparities. The RNA splicing landscape of PCa across racial populations has not been fully explored as a potential molecular mechanism contributing to race-related tumour aggressiveness. Here, we identify novel…
Unicode Locale Data Markup Language (LDML) Technical Reports Unicode Technical Standard #35 Unicode Locale Data Markup Language (LDML) Version 44.1 Editors Mark Davis ( markdavis@google.com ) and other CLDR committee members Date 2023-12-06 This Version Previous Version Latest Ve…
BACKGROUND Alzheimer’s Disease (AD), the most prevalent neurodegenerative disease, is characterized by a progressive decline in cognitive function accompanied by the development of extracellular neurotoxic amyloid-beta (Aβ) plaques and intracellular neurofibrillary tangles (NFT) …
van der Harst, P. & Verweij, N. Identification of 64 novel genetic loci provides an expanded view on the genetic architecture of coronary artery disease. Circ. Res. 122 , 433–443 (2018). Article PubMed PubMed Central Google Scholar Nelson, C. P. et al. Association analyses based …
Abstract Purpose To describe the clinical characteristics, natural history, genetic landscape, and phenotypic spectrum of neuronal ceroid lipofuscinosis (NCL)-associated retinal disease. Design Multicenter retrospective cohort study complemented by a cross-sectional examination. …
Abstract Apical reabsorption from the urine has been shown to be important for such processes as the maintenance of critical metabolites in the blood and the excretion of nephrotoxic compounds. The solute carrier (SLC) transporter OAT4 ( SLC22A11 ) is expressed on the apical memb…
Unicode Locale Data Markup Language (LDML) Technical Reports Unicode Technical Standard #35 Unicode Locale Data Markup Language (LDML) Version 43 Editors Mark Davis ( markdavis@google.com ) and other CLDR committee members Date 2023-04-11 This Version Previous Version Latest Vers…
UTS #35: Unicode Locale Data Markup Language Technical Reports Unicode Technical Standard #35 Unicode Locale Data Markup Language (LDML) Version 37 Editors Mark Davis ( markdavis@google.com ) and other CLDR committee members Date 2020-04-15 This Version Previous Version Latest Ve…
UTS #35: Unicode Locale Data Markup Language Technical Reports Unicode Technical Standard #35 Unicode Locale Data Markup Language (LDML) Version 36 Editors Mark Davis ( markdavis@google.com ) and other CLDR committee members Date 2019-10-02 This Version Previous Version Latest Ve…
UTS #35: Unicode Locale Data Markup Language Technical Reports Unicode Technical Standard #35 Unicode Locale Data Markup Language (LDML) Version 35 Editors Mark Davis ( markdavis@google.com ) and other CLDR committee members Date 2019-03-25 This Version Previous Version Latest Ve…