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Karstensen Stephenson posted an update 7 months ago
Using systematic data analysis with an established bioinformatics pipeline and segregation analysis, 17 pathogenic mutations in ABCA4 were identified in the 10 STGD families. Four of these mutations were novel c.371delG, c.681T > G, c.5509C > T, and EX37del. Childhood-onset STGD was associated with severe visual loss, generalized retinal dysfunction and was due to more severe variants in ABCA4 than those found in adult-onset disease.
We expand the existing spectrum of STGD and reveal the genotype-phenotype relationships of the ABCA4 mutations in Chinese patients. Childhood-onset STGD lies at the severe end of the spectrum of ABCA4-associated retinal phenotypes.
We expand the existing spectrum of STGD and reveal the genotype-phenotype relationships of the ABCA4 mutations in Chinese patients. Childhood-onset STGD lies at the severe end of the spectrum of ABCA4-associated retinal phenotypes.Replication-competent virus has not been detected in individuals with mild to moderate COVID-19 more than 10 days after symptom onset. It is unknown whether these findings apply to nursing home residents. Of 273 specimens collected from nursing home residents >10 days from the initial positive test, none were culture positive.Thermo-responsive microgel particles can exhibit a drastic volume shrinkage upon increasing the solvent temperature. Recently we found that the spreading of poly(N-isopropylacrylamide) (PNiPAm) microgels at a liquid interface under the influence of surface tension hinders the temperature-induced volume phase transition. In addition, we observed a hysteresis behavior upon temperature cycling, i.e. a different evolution in microgel size and shape depending on whether the microgel was initially adsorbed to the interface in expanded or collapsed state. Here, we model the volume phase transition of such microgels at an air/water interface by monomer-resolved Brownian dynamics simulations and compare the observed behavior with experiments. We reproduce the experimentally observed hysteresis in the microgel dimensions upon temperature variation. Our simulations did not observe any hysteresis for microgels dispersed in the bulk liquid, suggesting that it results from the distinct interfacial morphology of the microgel adsorbed at the liquid interface. An initially collapsed microgel brought to the interface and subjected to subsequent swelling and collapsing (resp. cooling and heating) will end up in a larger size than it had in the original collapsed state. Further temperature cycling, however, only shows a much reduced hysteresis, in agreement with our experimental observations. We attribute the hysteretic behavior to a kinetically trapped initial collapsed configuration, which relaxes upon expanding in the swollen state. We find a similar behavior for linear PNiPAm chains adsorbed to an interface. Our combined experimental – simulation investigation provides new insights into the volume phase transition of PNiPAm materials adsorbed to liquid interfaces.Ion implantation underpins a vast range of devices and technologies that require precise control over the physical, chemical, electronic, magnetic and optical properties of materials. A variant termed “recoil implantation” – in which a precursor is deposited onto a substrate as a thin film and implanted via momentum transfer from incident energetic ions – has a number of compelling advantages, particularly when performed using an inert ion nano-beam . However, a major drawback of this approach is that the implant species are limited to the constituents of solid thin films. selleck products Here we overcome this limitation by demonstrating recoil implantation using gas-phase precursors. Specifically, we fabricate nitrogen-vacancy (NV) color centers in diamond using an Ar+ ion beam and the nitrogen-containing precursor gases N2, NH3 and NF3. Our work expands the applicability of recoil implantation with the potential to be suitable to a larger portion of the periodic table, and to applications in which thin film deposition/removal is impractical.In this paper, some cationic dipeptides from scallop (Patinopecten yessoensis) male gonads (SMGs), which can synergistically gel with ι-carrageenan (ι-C), were screened by the in silico approach. Fourteen protein sequences of SMGs were obtained by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and nano liquid chromatography-mass spectrometry/mass spectrometry (nanoLC-MS/MS) analysis and were then hydrolyzed via in silico simulation. A total of 414 sequences were obtained with 56 duplicates, half of which were positively charged at pH 7. Among the cation sequences, 171 had good water solubility, including two amino acids (Lys and Arg). The molecular weight analysis of the cationic water-soluble sequences showed that 0.2-0.3 kDa accounted for the highest proportion. Based on the obvious synergistic effect of Lys and ι-C, 11 Lys-containing dipeptides, including Ser-Lys (SK), Thr-Lys (TK), Trp-Lys (WK), Ala-Lys (AK), Leu-Lys (LK), Gly-Lys (GK), Val-Lys (VK), Cys-Lys (CK), Asn-Lys (NK), Phe-Lys (FK), and Met-Lys (MK), were finally screened out to study gelation with ι-C. It was found that the dipeptides/ι-C formed firm gels except WK/ι-C. The values of the storage modulus (G’) of 11 dipeptides/ι-C were investigated by a rheometer. The G’ of 8 dipeptides/ι-C was higher than 1000 Pa. These results indicated that the in silico-screened dipeptides from SMGs can form composite gels with ι-C, which can be used for the design and development of functional hydrogels.The integration of multiple electronic or optoelectronic devices is an effective strategy to use their unique functions to realize a specific goal. A state-of-the-art photodetector (PD) array can realize real-time image sensing, but the image information will disappear immediately with the removal of the light stimuli. Here, we design a visible light sensing and recording system by the integration of a perovskite PD array with a tungsten trioxide-based electrochromic device (ECD) array (10 × 10 pixels). The system can convert the received visible light signals into electrical signals to change the storable color of the corresponding pixels in the ECD array, thus realizing optical information recording in the form of the color display. As a conceptual demonstration, the system achieves the recording of the “H”-shaped visible light pattern projected to the active area of the PD array. Besides, after removing the illumination stimuli, the recording of the light pattern continues in the absence of the power supply owing to the “color memory effect”.