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A bivalent remipede toxin promotes calcium release via ryanodine receptor activation
Publication Type: Academic Journal
Source(s): Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract: Insect toxins with tandem repeats of neurotoxin domains have been found with enhanced receptor avidity. Here, the authors describe a bivalent toxin from remipede venom that targets ryanodine receptors, a rare target for animal venoms.
SavvyCNV: Genome-wide CNV calling from off-target reads.
Publication Type: Academic Journal
Source(s): PLoS Computational Biology, Vol 18, Iss 3, p e1009940 (2022)
Abstract: Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and biologically-relevant CNVs ...
Adult-onset asthma and periocular xanthogranuloma – A rare infiltrative disease of the orbit and eyelid
Publication Type: Academic Journal
Source(s): American Journal of Ophthalmology Case Reports, Vol 22, Iss , Pp 101043- (2021)
Abstract: Purpose: To present a case of adult onset asthma with periocular xanthogranuloma (AAPOX), and discuss existing literature on adult orbital xanthogranulomatous diseases (AOXGDs) and their treatment. Observations: A 63 year old male presented with progre...
Natural variants suppress mutations in hundreds of essential genes
Publication Type: Academic Journal
Source(s): Molecular Systems Biology, Vol 17, Iss 5, Pp n/a-n/a (2021)
Abstract: Abstract The consequence of a mutation can be influenced by the context in which it operates. For example, loss of gene function may be tolerated in one genetic background, and lethal in another. The extent to which mutant phenotypes are malleable, the...
External Validation of a Predictive Model for Acute Skin Radiation Toxicity in the REQUITE Breast Cohort
Publication Type: Academic Journal
Source(s): Frontiers in Oncology, Vol 10 (2020)
Abstract: Background: Acute skin toxicity is a common and usually transient side-effect of breast radiotherapy although, if sufficiently severe, it can affect breast cosmesis, aftercare costs and the patient's quality-of-life. The aim of this study was to develo...
Precipitation regime change in Western North America: The role of Atmospheric Rivers
Publication Type: Academic Journal
Source(s): Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Abstract: Abstract Daily precipitation in California has been projected to become less frequent even as precipitation extremes intensify, leading to uncertainty in the overall response to climate warming. Precipitation extremes are historically associated with A...
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome [version 2; peer review: 2 approved, 1 approved with reservations]
Publication Type: Academic Journal
Source(s): Wellcome Open Research, Vol 4 (2020)
Abstract: Background: Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome. A range of clinical features can result from these deletions with the most commo...
MMP-3 in the peripheral serum as a biomarker of knee osteoarthritis, 40 years after open total knee meniscectomy
Publication Type: Academic Journal
Source(s): Journal of Experimental Orthopaedics, Vol 5, Iss 1, Pp 1-8 (2018)
Abstract: Abstract Background To explore potential biomarkers in a meniscectomy-induced knee osteoarthritis model, at forty years after meniscectomy. Methods We carried out a forty-year study of 53 patients who, as adolescents, underwent open total meniscectomy ...
2018 International Atmospheric Rivers Conference: Multi‐disciplinary studies and high‐impact applications of atmospheric rivers
Publication Type: Academic Journal
Source(s): Atmospheric Science Letters, Vol 20, Iss 9, Pp n/a-n/a (2019)
Abstract: Abstract Atmospheric rivers (ARs) play a vital role in shaping the hydroclimate of many regions globally, and can substantially impact water resource management, emergency response planning, and other socioeconomic entities. The second International At...
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
Publication Type: Academic Journal
Source(s): Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Abstract: Maturity-onset diabetes of the young (MODY) is the most common subtype of familial diabetes. Here, Patel et al. use targeted DNA sequencing of MODY patients and large-scale publically available data to show that RFX6 heterozygous protein truncating var...