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Complex Structural <i>PPT1</i> Variant Associated with Non-syndromic Canine Retinal Degeneration
摘要： Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to progressive degeneration and eventually blindness. In man, many rod and rod-cone degenerative diseases are classified as forms of retinitis pigmentosa (RP). Dogs also have a comparable disease grouping termed progressive retinal atrophy (PRA). These diseases are generally due to single gene defects and follow Mendelian inheritance. We collected 51 DNA samples from Miniature Schnauzers affected by PRA (average age of diagnosis ~3.9 ±1 years), as well as from 56 clinically normal controls of the same breed (average age ~6.6 ±2.8 years). Pedigree analysis suggested monogenic autosomal recessive inheritance of PRA. GWAS and homozygosity mapping defined a critical interval in the first 4,796,806 bp of CFA15. Whole genome sequencing of two affected cases, a carrier and a control identified two candidate variants within the critical interval. One was an intronic SNV in HIVEP3, and the other was a complex structural variant consisting of the duplication of exon 5 of the PPT1 gene along with a conversion and insertion (named PPT1dci). PPT1dci was confirmed homozygous in a cohort of 22 cases, and 12 more cases were homozygous for the CFA15 haplotype. Additionally, the variant was found homozygous in 6 non-affected dogs of age higher than the average age of onset. The HIVEP3 variant was found heterozygous (n=4) and homozygous wild-type (n=1) in cases either homozygous for PPT1dci or for the mapped CFA15 haplotype. We detected the wildtype and three aberrant PPT1 transcripts in isolated white blood cell mRNA extracted from a PRA case homozygous for PPT1dci, and the aberrant transcripts involved inclusion of the duplicated exon 5 and novel exons following the activation of cryptic splice sites. No neurological signs were detected among the dogs homozygous for the PPT1dci variant. Therefore, we propose PPT1dci as causative for a non-syndromic form of PRA (PRAPPT1) that shows incomplete penetrance in Miniature Schnauzers, potentially related to the presence of the wild-type transcript. To our knowledge, this is the first case of isolated retinal degeneration associated with a PPT1 variant.
关键词： progressive retinal atrophy,palmitoyl protein thioesterase,dog,complex variant,PRA,retinal degeneration,whole genome sequencing
更新于2025-09-23 15:22:29
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The correlation between visual acuity outcomes and optical coherence tomography parameters following surgery for diabetic epiretinal membrane and taut posterior hyaloid
摘要： Purpose: To evaluate the relationship between visual outcomes and the determinants detected by spectral domain optical coherence tomography (OCT) in eyes with epiretinal membrane (ERM) and/or taut posterior hyaloid (TPH) that underwent pars plana vitrectomy (PPV). Materials and methods: A total of 30 participants with diabetic ERM and TPH were included in the study. All study participants underwent PPV. Preoperative and postoperative best corrected visual acuity (BCVA), peripapillary retinal nerve fiber layer (RNFL), macular RNFL, ganglion cell layer, inner plexiform layer, and ganglion cell complex thicknesses were measured in each participant. Linear regression analyses were performed to determine the association between the OCT parameters and the visual acuity measured at the time of the OCT measurement. Results: The postoperative BCVA logarithm of the minimum angle of resolution (logMAR) values were statistically higher than the preoperative values in the ERM group and TPH group (P=0.001 and P<0.001, respectively). The postoperative BCVA logMAR value was negatively correlated with average RNFL, inferior RNFL thicknesses, and image quality (P=0.002, P=0.004, and P=0.006, respectively). The preoperative and postoperative BCVA logMAR value difference was not correlated with age and all of the OCT parameters measured (P>0.05). Conclusion: This study shows that achievement of better peripapillary RNFL thickness results in better visual outcome after PPV and ERM/TPH removal.
关键词： retinal nerve fiber layer,ganglion cell complex,optical coherence tomography,taut posterior hyaloid,diabetic epiretinal membrane
更新于2025-09-23 15:22:29
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Dual-prism based terahertz time-domain attenuated total reflection spectroscopy and its application to characterise the hydration state of L-threonine in solution
摘要： To investigate the hydration state of amino acids, terahertz time-domain attenuated total internal reflection (THz TD-ATR) spectroscopy is often adopted to measure the complex permittivity. However, the classical THz TD-ATR spectroscopy system has only a single ATR prism and requires prism cleaning for different measuring modes, increasing the time consumed and easily introducing errors due to the changing environment. To accelerate the measurements and avoid the influence of environmental fluctuations, in this paper, we designed and built a dual-prism based THz TD-ATR spectroscopy: two ATR prisms with and without samples setting on the optical rail can be sequentially switched to optical systems for easily and rapidly collecting both sample and reference ATR spectra. According to the measurements of deionised water, the dual-prism based THz TD-ATR spectroscopy system can measure the sample complex permittivity rapidly and with high accuracy. The complex permittivity of L-threonine in aqueous solution is measured and analysed via the proposed system, and the hydration numbers of L-threonine solutions in different concentrations are quantitatively characterised. It is believed that the dual-prism based THz TD-ATR technique is a powerful tool for quickly and accurately investigating the hydration of amino acids.
关键词： Terahertz spectroscopy,Complex permittivity,Time-domain attenuated total internal reflection,Amino acid hydration
更新于2025-09-23 15:22:29
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Luminescent TOP Nanosensors for Simultaneously Measuring Temperature, Oxygen, and pH at a Single Excitation Wavelength
摘要： Two nanosensors for simultaneous optical measurements of the bioanalytically and biologically relevant analytes temperature (“T”), oxygen (“O”), and pH (“P”) have been designed. These “TOP” nanosensors are based on 100 nm-sized silica-coated polystyrene nanoparticles (PS-NPs) doped with a near infrared emissive oxygen- and temperature-sensitive chromium(III) complex ([Cr(ddpd)2][BPh4]3, CrBPh4) and an inert reference dye (Nile Red, NR or 5,10,15,20-tetrakis-(pentafluorophenyl) porphyrin, TFPP) and are covalently labeled with pH-sensitive fluorescein isothiocyanate (FITC). These emitters can be excited at the same wavelength and reveal spectrally distinguishable emission bands allowing for ratiometric intensity-based and time-resolved studies in the visible and near infrared wavelength region. Studies in PBS buffer solutions and in a model body liquid demonstrate the applicability of these nanosensors for the sensitive fluorescence readout of TOP simultaneously at the same position.
关键词： lifetime,fluorescence,chromium(III) complex,oxygen/pH/temperature biosensor,optical multianalyte nanosensors,phosphorescence
更新于2025-09-23 15:22:29
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N-hydroxyphthalimide-TiO2 complex visible light photocatalysis
摘要： TiO2 is the most established semiconductor photocatalyst. The prominence of TiO2 is becoming increasingly obvious because its interfacial redox reactions have implication on a wide range processes such as energy conversion and environmental remediation. Herein, we exploited the surface complex created by the interaction between organic molecules with binding sites and accommodating surface of TiO2 for visible light-driven selective aerobic oxidation reactions. A novel surface complex formed between N-hydroxyphthalimide (NHPI) and TiO2 was discovered. The NHPI-TiO2 complex turned out to be an outstanding visible light photocatalyst and was successfully used in the selective oxidation of amines into imines with atmosphere O2 under blue LED irradiation. The stability of the NHPI-TiO2 complex was preserved by 3 mol% of (2,2,6,6-tetramethylpiperidin-1-yl)oxyl (TEMPO) acted as a cooperative catalyst. Moreover, selectivities for the imine products were also prompted by TEMPO. Superoxide radicals (O2?-) were evidenced to be the primary reactive oxygen species (ROS) to execute the oxidative conversions. This work suggests that TiO2 surface complexes can be robust photocatalysts for visible light-driven selective aerobic reactions, provided that an appropriate cooperative redox catalyst exists to channel the photocatalytic electron transfer.
关键词： titanium dioxide,surface complex,N-hydroxyphthalimide,molecular oxygen,TEMPO
更新于2025-09-23 15:22:29
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Synthesis, photophysical properties and DFT studies of the pyridine-imidazole (PyIm) Cu(I) complexes: Impact of the pyridine ring functionalized by different substituents
摘要： A series of the pyridine-imidazole (PyIm) Cu(I) complexes with different substituents (bromide (P1), methyl (P2), and phenyl (P3)) attached on the pyridine ring are synthesized and characterized. All the complexes show the typical metal-to-ligand charge transfer (MLCT) absorption in the visible region. Complex P1 with an electron-withdrawing substituent on the pyridine ring, e.g., a bromine group, shows a red shift of the emission wavelength. Conversely, an electron-donating substituent on the pyridine ring in complex P2, e.g., a methyl group, shifts the emission to longer wavelength. Similarly, complex P3 containing the extended π-conjugation system of the ligand also exhibits a red shift of the emission wavelength. All of the complexes exhibit efficient green-yellow emission in PMMA films at room temperature with emission wavelength of 547–569 nm and quantum yields of 24.8–53.0%. Meanwhile, DFT and TDDFT methods were employed to explain the photophysical properties.
关键词： Pyridine-imidazole,Copper (I) complex,Metal-to-ligand charge transfer,Molar extinction coefficient,Density functional theory
更新于2025-09-23 15:22:29
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Photoluminescence Immunosensor Based on Bovine Leukemia Virus Proteins Immobilized on the ZnO Nanorods
摘要： Bovine leukaemia virus (BLV) proteins gp51, which are serving as antigens for specific antibodies against BLV proteins (anti-gp51), were applied as biological recognition part in the design of immunosensor devoted for the determination of anti-gp51. The efficiency of the immobilization of BLV proteins gp51 on ZnO nanorod (ZnO-NR) modified glass (ZnO-NR/glass) surface was evaluated. The formation of antigen-antibody complex on the ZnO/glass modified by the BLV proteins gp51 (gp51/ZnO-NR/glass) was investigated by the determination of changes in ZnO photoluminescence. The applicability of gp51/ZnO-NR/glass in the design of photoluminescence based immunosensor was evaluated. Bovine serum albumin (BSA) was applied for the modification of sensing gp51 layer in order to form gp51&BSA layer with advanced selectivity. Polyallylamine hydrochloride (PAH) was applied in order to improve the immobilization of gp51 and BSA based sensing layer (gp51&BSA) on the surface of ZnO-NR/glass. PAH was applied during the formation of gp51&BSA/PAH/ZnO-NR/glass structure. Some aspects of the mechanism of interaction between biomolecules (gp51, bovine serum albumin (BSA) and anti-gp51) and ZnO-NR during the preparation and action of gp51&BSA/ZnO-NR/glass- and gp51&BSA/PAH/ZnO-NR/glass-based immunosensors have been discussed.
关键词： Bovine leukemia virus (BLV),Photoluminescence,Optical immunosensor,ZnO nanorods,Antigen-antibody complex.
更新于2025-09-23 15:22:29
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Contact Angle Relaxation and Long-lasting Hydrophilicity of Sputtered Anatase TiO <sub/>2</sub> Thin Films by Novel Quantitative XPS Analysis
摘要： The contact angle relaxation of TiO2 surfaces is an important problem that must be understood, particularly for long-lasting hydrophilicity under dark conditions. The relaxation of sputtered anatase TiO2 thin films over a long time (~22 days) in an atmospheric environment was observed using quantitative XPS analysis. A new peak was identified as H2O within a donor-acceptor complex at ~2.57 eV above the lattice oxygen peak. This donor?acceptor complex turns out to be a key factor for long lasting hydrophilicity, and our model is presented. Adventitious carbon contamination was not the main cause of the contact angle relaxation. Instead, samples with lower amounts of donor?acceptor complexes (IDAC/Ibulk ≤ ~5%) underwent contact angle relaxation over time, and samples with a high density of donor?acceptor complexes (IDAC/Ibulk ≥ ~10%) showed good hydrophilicity (contact angle ≤ 20°) over 22 days. Larger amounts of basic Ti?OH relative to acidic OHbridge (ITi?OH/Ibridge ≥ 1) resulted in greater amounts of donor?acceptor complexes (IDAC/Ibulk ≥ ~10%). Thus, basic Ti?OH groups interact with H2O by forming a strong electrostatic donor?acceptor complex, leading to long-lasting hydrophilicity. Indeed, TiO2 was transformed to show long lasting hydrophilicity by high-density oxygen plasma treatment by forming sufficient Ti?OH groups and H2O molecules in the donor?acceptor complexes. Contact angle relaxation is closely related to the interactions between water molecules and the TiO2 surface in the dark. It is suggested that the relaxation depends on the number of electrostatic donor?acceptor complexes. This study provides new insight by linking theoretical studies with the experimental contact angle at the TiO2 surface in an ambient environment and is the first study that provides the presented relaxation mechanism.
关键词： Hydrophilicity,Sputtering,Plasma treatment,Contact angle relaxation,XPS analysis,Donor-acceptor complex,TiO2 thin films
更新于2025-09-23 15:22:29
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The Catalytic Cycle of Water Oxidation in Crystallized Photosystem II Complexes: Performance and Requirements for Formation of Intermediates
摘要： Crystals of Photosystem II (PSII) contain the most homogeneous copies of the water-oxidizing reaction center where O2 is evolved (WOC). However, few functional studies of PSII operation in crystals have been carried out, despite their widespread use in structural studies. Here we apply oximetric methods to determine the quantum efficiency and lifetimes of intermediates of the WOC cycle as a function of added electron acceptors (quinones and ferricyanide), both aerobically and anaerobically. PSII crystals exhibit the highest quantum yield of O2 production yet observed of any native or isolated PSII (61.6%, theoretically 59,000 μmol O2/mg Chl/h). WOC cycling can be sustained for thousands of turnovers using an irreversible electron acceptor (ferricyanide). Simulations of the catalytic cycle identify four distinct photochemical inefficiencies in both PSII crystals and dissolved PSII cores that are nearly the same. The exogenous acceptors equilibrate with the native plastoquinone acceptor at the QB (or QC) site(s), for which two distinct redox couples are observable that regulate flux through PSII. Flux through the catalytic cycle of water oxidation is shown to be kinetically restricted by the QAQB two-electron gate. The lifetimes of the S2 and S3 states are greatly extended (especially S2) by electron acceptors and depend on their redox reversibility. PSII performance can be pushed in vitro far beyond what it is capable of in vivo. With careful use of precautions and monitoring of populations, PSII microcrystals enable the exploration of WOC intermediates and the mechanism of catalysis.
关键词： oxygen-evolving complex,electron acceptors,(micro)crystals,S states,quantum yield,Photosystem II
更新于2025-09-23 15:22:29
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Photophoretic force measurement on microparticles in binary complex plasmas
摘要： This article presents a method to measure the photophoretic force on microparticles in complex plasmas. A laser heating setup is used to increase the kinetic temperatures of binary mixtures composed of melamine-formaldehyde (MF) and silica (SiO2) particles. The temperature gain of both particle species due to the additional thermal reservoir is compared to a laser force model. Contributions of radiation pressure and photophoretic forces are determined through a variation of neutral gas pressure and application of Lorenz-Mie theory. The photophoretic force is found to be significant for MF particles at typical conditions in complex plasma experiments.
关键词： photophoretic force,microparticles,radiation pressure,complex plasmas,Lorenz-Mie theory,binary mixtures,laser heating
更新于2025-09-23 15:22:29