Considering the clinical phenotype suggestive of both Aicardi-Goutières syndrome (AGS) and Cornelia de Lange syndrome (CdL), we proceeded to depict the genetic map of the patient. A targeted next-generation sequencing panel for AGS genes revealed a novel homozygous variant (frameshift deletion) c....
tetraspanins are non-specific proteins that can interact with and form complexes alongside integrins or major histocompatibility complex (MHC) molecules. Conversely, specific proteins such as the tumor-associated high expression of epithelial cell adhesion molecule (EpCAM), CD44 [46,47,48,49], epiderm...
However, species richness considers all species to be equally distinct, providing little information on the evolutionary makeup of the assemblage, how assemblages form, and the ecosystem functions they perform (Wilsey et al. 2005). In recent decades, indices integrating species’ evolutionary histories...
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CDL developed the study protocol from the study design as outlined in the funding application. All authors contributed to the writing of this manuscript and approved the final version for submission. Corresponding author Correspondence to Helen Killaspy....
2013). A drawback of BNNT is its tendency to form large clusters in aqueous media, which hinders its direct use for cell studies. Strategies have been formulated with a wide range of polymers such as glycol chitosan (GC), poly-L-lysine and polyethyleneimine to allow uniform dispersion (...
Though distance functions can directly provide the distance information from a given position to the objects that they represent, only a small number of relatively simple objects can be modeled directly as distance functions. As the most popular form of representation of a geometric object, triangle...
The NOTCH receptor, a transmembrane protein with extracellular (NECD), transmembrane (TM), and intracellular (NICD) domains, was reported to be associated with fibrosis. NOTCH precursor protein goes through a series of cleavage events, including gamma-secretase, and further releases activated form NI...
form of energy [16], and the importance of governance in promoting those material energy assets and their use [62]. These contributions have expanded our understanding of energy infrastructure and its relations with the urban realm and the wider spatial organisation of agency. Refocusing the ...
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