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Mutations are not identified in ~5% of hemophilia A and 10-35% of type 1 VWD patients. The bleeding tendency also varies among patients carrying the same causative mutation, potentially indicating variants in additional genes modifying the phenotype that cannot be identified by routine single-gene analysis. The F8, F9 and VWF genes were analyzed in parallel using an AmpliSeq strategy and Ion Torre
Field observations of new particle formation and the subsequent particle growth are typically only possible at a fixed measurement location, and hence do not follow the temporal evolution of an air parcel in a Lagrangian sense. Standard analysis for determining formation and growth rates requires that the time-dependent formation rate and growth rate of the particles are spatially invariant; air p
Historically, private initiative has always been of great significance for the arts. In most Europe-an countries the government took over from the private initiative after World War II. However, private initiative never completely disappeared, this is also true in the second half of the 20th century in which government subsidies were the dominant factor in the funding of the arts and cultural heri
Sinus node dysfunction (SND) causes significant morbidity in patients after Fontan surgery. Heart rate variability (HRV) reflects the autonomic regulation of the heart, and changes in HRV have been associated with SND in adults. We aimed to study whether changes in HRV could be detected in 24-h electrocardiographic (ECG) recordings in Fontan patients with SND. We compared HRV results from two pati
In silico tools for splicing defect prediction have a key role to assess the impact of variants of uncertain significance. Our aim was to evaluate the performance of a set of commonly used splicing in silico tools comparing the predictions against RNA in vitro results. This was done for natural splice sites of clinically relevant genes in hereditary breast/ovarian cancer (HBOC) and Lynch syndrome.
Searches for dijet resonances with sub-TeV masses using the ATLAS detector at the Large Hadron Collider can be statistically limited by the bandwidth available to inclusive single-jet triggers, whose data-collection rates at low transverse momentum are much lower than the rate from standard model multijet production. This Letter describes a new search for dijet resonances where this limitation is
Based on previous observations of the diurnal variation of urinary cystine excretion, the use of separate day and night urine collections was proposed. To improve the medical treatment of patients with cystinuria, this strategy was performed to guide the fluid intake and the administration of SH compounds (tiopronin, D-penicillamine, and MESNA).Twenty-six patients (19 treated with SH compounds and
The formation of a hybrid composite material consisted of polymer brushes and phenylboronic acid ligands on a macroporous cryogel is reported here for the first time for effective adsorption of glycoprotein and yeast cells. The surface area of the cryogel was increased by covalent immobilization of silica nanoparticles. Random copolymer brushes composed of N-isopropylacrylamide and glycidyl methac
We report the molecular and functional characterization of a new α chain of laminin in Drosophila. The new laminin chain appears to be the Drosophila counterpart of both vertebrate α2 (also called merosin) and α1 chains, with a slightly higher degree of homology to α2, suggesting that this chain is an ancestral version of both αl and α2 chains. During embryogenesis, the protein is associated with
Alpha1-microglobulin (alpha1m) is a small glycoprotein with immunomodulatory properties. It is a member of the lipocalin family, a group of proteins that exhibit a well-conserved three-dimensional structure despite low sequence identity and that are known to bind small hydrophobic ligands. The types of ligands carried by alpha1m are still unknown, but it is known that this protein has yellow-brown
On-line hyphenation of extraction with chromatography has been explored in several different types of combinations. However, monitoring the complete process of a dynamic, continuous-flow extraction is not possible with any hyphenated system reported so far. The current work demonstrates that this challenging task can be effectively fulfilled by using a parallel sampling interface, which mimics the
Acquired mutations in TP53 as well as immunohistochemically detectable protein expression have been implicated as prognostic factors for breast cancer. We have evaluated the relationship between mutations detected in 119 breast tumours and various clinicohistopathological indices, stratifying the mutations according to the functional domains as defined by the recent elucidation of the crystal stru
The current study aimed to investigate the Autism Diagnostic Interview-Revised (ADI-R) algorithms for toddlers and young preschoolers (Kim and Lord, J Autism Dev Disord 42(1):82-93, 2012) in a non-US sample from ten sites in nine countries (n = 1,104). The construct validity indicated a good fit of the algorithms. The diagnostic validity was lower, with satisfactorily high specificities but modera
