bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease
Authors: Ando Masahiro , Higuchi Yujiro , Yuan Junhui , Yoshimura Akiko , Taniguchi Takaki , Takei Jun , Takeuchi Mika , Hiramatsu Yu , Shimizu Fumitaka , Kubota Masaya , Takeshima Akari , Ueda Takehiro , Koh Kishin , Nagaoka Utako , Tokashiki Takashi , Sawai Setsu , Sakiyama Yusuke , Hashiguchi Akihiro , Sato Ryota , Kanda Takashi , Okamoto Yuji , Takashima Hiroshi 
Published: June 2022

AbstractBackgroundRecessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early‐onset peripheral neuropathy associated with SLC12A6 heterozygous variants were reported in 2016. Only five families and three variants have been reported to date, and the spectrum is unclear. Here, we aim to describe the clinical and mutation spectra of SLC12A6‐related Charcot–Marie–Tooth (CMT) disease in Japanese patients.MethodsWe extracted SLC12A6 variants from our DNA microarray and targeted resequencing data obtained from 2598 patients with clinically suspected CMT who were referred to our genetic laboratory by neurological or neuropediatric departments across Japan. And we summarized the clinical and genetic features of these patients.ResultsIn seven unrelated families, we identified one previously reported and three novel likely pathogenic SLC12A6 heterozygous variants, as well as two variants of uncertain significance. The mean age of onset for these patients was 17.5 ± 16.1 years. Regarding electrophysiology, the median motor nerve conduction velocity was 39.6 ± 9.5 m/sec. For the first time, we observed intellectual disability in three patients. One patient developed epilepsy, and her brain MRI revealed frontal and temporal lobe atrophy without changes in white matter and corpus callosum.ConclusionsScreening for the SLC12A6 gene should be considered in patients with CMT, particularly those with central nervous system lesions, such as cognitive impairment and epilepsy, regardless of the CMT subtype.
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
Authors: Bruels Christine C. , Littel Hannah R. , Daugherty Audrey L. , Stafki Seth , Estrella Elicia A. , McGaughy Emily S. , Truong Don , Badalamenti Jonathan P. , Pais Lynn , Ganesh Vijay S. , O'Donnell‐Luria Anne , Stalker Heather J. , Wang Yang , Collins Christin , Behlmann Andrea , Lemmers Richard J. L. F. , van der Maarel Silvère M. , Laine Regina , Ghosh Partha S. , Darras Basil T. , Zingariello Carla D. , Pacak Christina A. , Kunkel Louis M. , Kang Peter B. 
Published: June 2022

AbstractMany individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had muscular dystrophy but lacked complete genetic diagnoses and one had an asymptomatic DMD duplication. Nanopore genomic long‐read sequencing identified previously undetected pathogenic variants in four individuals: an SV in DMD, an SV in LAMA2, and two single nucleotide variants in DMD that alter splicing. The DMD duplication in the asymptomatic individual was in tandem. Nanopore sequencing may help streamline genetic diagnostic approaches for muscular dystrophy.
Certolizumab Pegol Efficacy in Patients With Non‐Radiographic Axial Spondyloarthritis Stratified by Baseline MRI and C‐Reactive Protein Status: An Analysis From the C‐axSpAnd Study
Authors: Robinson Philip C. , Maksymowych Walter P. , Gensler Lianne S. , Hall Stephen , Rudwaleit Martin , Hoepken Bengt , Bauer Lars , Kumke Thomas , Kim Mindy , de Peyrecave Natasha , Deodhar Atul 
Published: June 2022

ObjectiveTumor necrosis factor inhibitors (TNFi) are an effective treatment for non‐radiographic axial spondyloarthritis (nr‐axSpA). To be eligible, however, many authorities require patients with nr‐axSpA to show active sacroiliitis on magnetic resonance imaging (MRI) and/or an elevated C‐reactive protein (CRP) level, possibly resulting in a perception that patients with nr‐axSpA without both factors have only low responses to TNFi treatment. We evaluated clinical responses to certolizumab pegol (CZP) in patients with nr‐axSpA stratified by baseline MRI/CRP status.MethodsC‐axSpAnd was a phase 3, multicenter study on CZP in adult patients with active nr‐axSpA and objective signs of inflammation. This analysis assessed efficacy of CZP over the 52‐week randomized, double‐blind, placebo‐controlled period in patients stratified into subgroups based on the presence of active sacroiliitis on MRI and CRP level at baseline.ResultsCZP‐treated patients across all MRI/CRP subgroups achieved clinical responses greater than placebo. Across outcome measures, CZP‐treated MRI+/CRP+ patients demonstrated the greatest clinical responses, but substantial improvements were also observed in CZP‐treated MRI+/CRP− and MRI−/CRP+ patients. Ankylosing Spondylitis Disease Activity Score Major Improvement response rates at week 52 among CZP‐treated patients (75.6% MRI+/CRP+; 47.5% MRI−/CRP+; and 29.7% MRI+/CRP−) were higher than rates in placebo groups (range: 3.9%‐12.5%). Assessment of SpondyloArthritis international Society 40% response, Bath Ankylosing Spondylitis Disease Activity Index, and Bath Ankylosing Spondyloarthritis Functional Index had similar response patterns, although differences between the CZP‐treated MRI/CRP subgroups were smaller. Clinical responses among CZP‐treated patients were also observed in additional subgroups, including those with low Spondyloarthritis Research Consortium of Canada MRI sacroiliac joint inflammation scores and those with normal baseline CRP levels.ConclusionOur findings indicate that CZP treatment benefits patients with nr‐axSpA across MRI+/CRP+, MRI−/CRP+, and MRI+/CRP− subgroups.
Reversible Wet‐Adhesive and Self‐Healing Conductive Composite Elastomer of Liquid Metal
Authors: Pei Danfeng , Yu Shanyu , Liu Ping , Wu Yongpeng , Zhang Xiaofang , Chen Yijun , Li Mingjie , Li Chaoxu 
Published: June 2022

AbstractStretchable conductors with the combination of high elasticity and electric conductivity have long been pursued in soft electronics. Liquid metals (LMs), whose mechanical properties match well with the elastomeric matrix, have been successfully applied in soft robotics, electronic skins and wearable devices. But it remains challenging to develop conductive composite elastomers of LMs with reversible adhesion and self‐healing. Herein, EGaIn droplets are uniformly dispersed into elastomer, which contain dynamic disulfide to endow the composite elastomer with thermal processability, recyclability, reversible wet adhesion, and self‐healing. With the EGaIn content of ≥40 vol.%, the resultant composite elastomer shows the electric conductivity of 1.3 × 104 S m−1, self‐healing in 8.0 h, and reversible wet adhesion strength up to 670 kPa after curing for 2.0 h. When serving as conductive adhesive, it can easily adhere to the metal electrode to light up the LED even when stretched to 50%. When serving as self‐adhesive bioelectrode, it can also detect human electromyography signals. Thus, not only may this study provide a new platform of designing self‐adhesive, self‐healing, and conductive composite elastomers of liquid metals, but their reversible wet adhesion and self‐healing also promise the facileness of building damage‐endurable soft electronics and applying to human–machine interfaces.
Robust Interfacial Modifier for Efficient Perovskite Solar Cells: Reconstruction of Energy Alignment at Buried Interface by Self‐Diffusion of Dopants
Authors: Wang Lipeng , Xia Jianxing , Yan Zheng , Song Peiquan , Zhen Chao , Jiang Xin , Shao Guang , Qiu Zeliang , Wei Zhanhua , Qiu Jianhang , Nazeeruddin Mohammad Khaja 
Published: June 2022

AbstractThe under‐coordinated defects within perovskite and its relevant interfaces always attract and trap the free carriers via the electrostatic force, significantly limiting the charge extraction efficiency and the intrinsic stability of perovskite solar cells (PSCs). Herein, self‐diffusion interfacial doping by using ionic potassium L‐aspartate (PL‐A) is first reported to restrain the carrier trap induced recombination via the reconstruction of energy level structure at SnO2/perovskite interface in conventional n‐i‐p structured PSCs. Experiments and theories are consistent with the PL‐A anions that can remain at the SnO2 surface due to strong chemical adsorption. During the spin‐coating of the perovskite film, the cations gradually diffuse into perovskite and endow an n‐doping effect, which provides higher force and a better energy level alignment for the carrier transport. As a result, they obtained 23.74% power conversion efficiency for the PL‐A modified small‐area devices, with dramatically improved open‐circuit voltage of 1.19 V. The corresponding large‐area devices (1.05 cm2) achieved an efficiency of 22.23%. Furthermore, the modified devices exhibited negligible hysteresis and enhanced ambient air stability exceeding 1500 h.
Smart Compression Therapy Devices for Treatment of Venous Leg Ulcers: A Review
Authors: Coelho Rezende Gustavo , O'Flynn Brendan , O'Mahony Conor 
Published: June 2022

AbstractVenous leg ulcers can have significant social and economic impacts, and are generally treated by applying compression to the lower limb, which aids in promoting blood return to the heart. Compression therapies commonly involve the use of passive bandages that suffer from issues associated with incorrect application, and although automated solutions have begun to appear; these are often bulky and hinder mobility. Emerging microtechnologies and new materials enable the development of “smart” compression therapy devices, which are defined as systems that use miniaturized and lightweight actuators and electronics to control the applied pressure. This paper reviews the state of the art in smart compression therapy research. A total of seventeen different devices has been identified, categorized as using one of three actuation mechanisms: pneumatic compression, motor‐driven mechanisms, and smart materials (including shape memory alloys, shape memory polymers, and electroactive polymers). The field is still in its relative infancy and further refinements are required to create mass manufacturable compression dressing systems that meet medical, ergonomic, and economic standards. The use of miniaturized actuators has immense potential for the development of smart compression dressings, which will ultimately lead to higher compliance, increased patient comfort, enhanced mobility, and better treatment outcomes.
Engineered Red Blood Cell Membrane‐Coating Salidroside/Indocyanine Green Nanovesicles for High‐Efficiency Hypoxic Targeting Phototherapy of Triple‐Negative Breast Cancer
Authors: Pan Yi , He Yichen , Zhao Xin , Pan Yue , Meng Xuli , Lv Zhenye , Hu Zhiming , Mou Xiaozhou , Cai Yu 
Published: June 2022

AbstractTriple‐negative breast cancer (TNBC) presents special biological behavior and clinicopathological characteristics and leads to a worse prognosis than other types of breast cancer. The development of an effective therapeutic method is significant to improve the survival rate of TNBC cancer patients. In this work, an engineered red blood cell membrane (RBCm)‐coating salidroside/indocyanine green nanovesicle (ARISP) is successfully prepared for hypoxic targeting phototherapy of TNBC. Salidroside in ARISP effectively ameliorates hypoxia‐induced tumorigenesis by downregulating the expression of hypoxia‐inducible factor 1α (HIF‐1α), which increases the killing effect of reactive oxygen species on tumor cells during photodynamic therapy (PDT) using the photosensitizer indocyanine green. Besides, ARISP has an anti‐LDLR modified RBCm‐coating that extends its circulation time in the blood and escapes from immune surveillance and enhances hypoxia‐targeted cellular uptake via the overexpressed LDLR receptor in hypoxic tumor sites. Moreover, guided by near‐infrared fluorescence imaging and photoacoustic imaging, ARISP can eliminate tumors via high‐efficiency phototherapy and inhibit lung and liver metastasis in TNBC models. Cytotoxicity assay of ARISP indicates the excellent biocompatibility with normal cells and tissues. This study provides fulfilling insights into the anticancer mechanism of reducing HIF‐1α for enhanced PDT and has a promising therapeutic potential for TNBC treatment.
Composition Engineering of Amorphous Nickel Boride Nanoarchitectures Enabling Highly Efficient Electrosynthesis of Hydrogen Peroxide
Authors: Wu Jie , Hou Meilin , Chen Ziliang , Hao Weiju , Pan Xuelei , Yang Hongyuan , Cen Wanglai , Liu Yang , Huang Hui , Menezes Prashanth W. , Kang Zhenhui 
Published: June 2022

AbstractDeveloping advanced electrocatalysts with exceptional two electron (2e−) selectivity, activity, and stability is crucial for driving the oxygen reduction reaction (ORR) to produce hydrogen peroxide (H2O2). Herein, a composition engineering strategy is proposed to flexibly regulate the intrinsic activity of amorphous nickel boride nanoarchitectures for efficient 2e− ORR by oriented reduction of Ni2+ with different amounts of BH4−. Among borides, the amorphous NiB2 delivers the 2e− selectivity close to 99% at 0.4 V and over 93% in a wide potential range, together with a negligible activity decay under prolonged time. Notably, an ultrahigh H2O2 production rate of 4.753 mol gcat−1 h−1 is achieved upon assembling NiB2 in the practical gas diffusion electrode. The combination of X‐ray absorption and in situ Raman spectroscopy, as well as transient photovoltage measurements with density functional theory, unequivocally reveal that the atomic ratio between Ni and B induces the local electronic structure diversity, allowing optimization of the adsorption energy of Ni toward *OOH and reducing of the interfacial charge‐transfer kinetics to preserve the OO bond.
A Memristors‐Based Dendritic Neuron for High‐Efficiency Spatial‐Temporal Information Processing
Authors: Li Xinyi , Zhong Yanan , Chen Hang , Tang Jianshi , Zheng Xiaojian , Sun Wen , Li Yang , Wu Dong , Gao Bin , Hu Xiaolin , Qian He , Wu Huaqiang 
Published: June 2022

AbstractDiverse microscopic ionic dynamics help mediate the ability of a biological neural network to handle complex tasks with low energy consumption. Thus, rich internal ionic dynamics in memristors based on transition metal oxide are expected to provide a unique and useful platform for implementing energy‐efficient neuromorphic computing. To this end, a titanium oxide (TiOx)‐based interface‐type dynamic memristor and an niobium oxide (NbOx)‐based Mott memristor are integrated as an artificial dendrite and spike‐firing soma, respectively, to construct a dendritic neuron unit for realizing high‐efficiency spatial‐temporal information processing. Further, a dendritic neural network is hardware‐implemented for spatial‐temporal information processing to highlight the computational advantages achieved by incorporating dendritic functions in the network. Human motion recognition is demonstrated using the Nanyang Technological University‐Red Green Blue (NTU‐RGB) dataset as a benchmark spatial‐temporal task; it shows a nearly 20% improvement in accuracy for the memristors‐based hardware incorporating dendrites and a 1000× advantage in power efficiency compared to that of the graphics processing unit (GPU). The dendritic neuron developed in this study can be considered a critical building block for implementing more bio‐plausible neural networks that can manage complex spatial‐temporal tasks with high efficiency.
Lasing Action from Quasi‐Propagating Modes
Authors: Tan Max J. H. , Park Jeong‐Eun , Freire‐Fernández Francisco , Guan Jun , Juarez Xitlali G. , Odom Teri W. 
Published: June 2022

AbstractBand edges at the high symmetry points in reciprocal space of periodic structures hold special interest in materials engineering for their high density of states. In optical metamaterials, standing waves found at these points have facilitated lasing, bound‐states‐in‐the‐continuum, and Bose–Einstein condensation. However, because high symmetry points by definition are localized, properties associated with them are limited to specific energies and wavevectors. Conversely, quasi‐propagating modes along the high symmetry directions are predicted to enable similar phenomena over a continuum of energies and wavevectors. Here, quasi‐propagating modes in 2D nanoparticle lattices are shown to support lasing action over a continuous range of wavelengths and symmetry‐determined directions from a single device. Using lead halide perovskite nanocrystal films as gain materials, lasing is achieved from waveguide‐surface lattice resonance (W‐SLR) modes that can be decomposed into propagating waves along high symmetry directions, and standing waves in the orthogonal direction that provide optical feedback. The characteristics of the lasing beams are analyzed using an analytical 3D model that describes diffracted light in 2D lattices. Demonstrations of lasing across different wavelengths and lattice designs highlight how quasi‐propagating modes offer possibilities to engineer chromatic multibeam emission important in hyperspectral 3D sensing, high‐bandwidth Li‐Fi communication, and laser projection displays.
Hexagonal Boron Nitride for Next‐Generation Photonics and Electronics
Authors: Moon Seokho , Kim Jiye , Park Jeonghyeon , Im Semi , Kim Jawon , Hwang Inyong , Kim Jong Kyu 
Published: June 2022

AbstractHexagonal boron nitride (h‐BN), an insulating 2D layered material, has recently attracted tremendous interest motivated by the extraordinary properties it shows across the fields of optoelectronics, quantum optics, and electronics, being exotic material platforms for various applications. At an early stage of h‐BN research, it is explored as an ideal substrate and insulating layers for other 2D materials due to its atomically flat surface that is free of dangling bonds and charged impurities, and its high thermal conductivity. Recent discoveries of structural and optical properties of h‐BN have expanded potential applications into emerging electronics and photonics fields. h‐BN shows a very efficient deep‐ultraviolet band‐edge emission despite its indirect‐bandgap nature, as well as stable room‐temperature single‐photon emission over a wide wavelength range, showing a great potential for next‐generation photonics. In addition, h‐BN is extensively being adopted as active media for low‐energy electronics, including nonvolatile resistive switching memory, radio‐frequency devices, and low‐dielectric‐constant materials for next‐generation electronics.
Ultrahigh Carrier Mobilities in Ferroelectric Domain Wall Corbino Cones at Room Temperature
Authors: McCluskey Conor J. , Colbear Matthew G. , McConville James P. V. , McCartan Shane J. , Maguire Jesi R. , Conroy Michele , Moore Kalani , Harvey Alan , Trier Felix , Bangert Ursel , Gruverman Alexei , Bibes Manuel , Kumar Amit , McQuaid Raymond G. P. , Gregg J. Marty 
Published: June 2022

AbstractRecently, electrically conducting heterointerfaces between dissimilar band insulators (such as lanthanum aluminate and strontium titanate) have attracted considerable research interest. Charge transport and fundamental aspects of conduction have been thoroughly explored. Perhaps surprisingly, similar studies on conceptually much simpler conducting homointerfaces, such as domain walls, are not nearly so well developed. Addressing this disparity, magnetoresistance is herein reported in approximately conical 180° charged domain walls, in partially switched ferroelectric thin‐film single‐crystal lithium niobate. This system is ideal for such measurements: first, the conductivity difference between domains and domain walls is unusually large (a factor of 1013) and hence currents driven through the thin film, between planar top and bottom electrodes, are overwhelmingly channeled along the walls; second, when electrical contact is made to the top and bottom of the domain walls and a magnetic field is applied along their cone axes, then the test geometry mirrors that of a Corbino disk: a textbook arrangement for geometric magnetoresistance measurement. Data imply carriers with extremely high room‐temperature Hall mobilities of up to ≈3700 cm2 V−1 s−1. This is an unparalleled value for oxide interfaces (and for bulk oxides) comparable to mobilities in other systems seen at cryogenic, rather than at room, temperature.
Novel Composite of Nickel Thiocyanate‐Based All‐Inorganic Lead Bromide Perovskite Nanocrystals with Enhanced Luminescent and Stability for White Light‐Emitting Diodes
Authors: Thapa Saroj , Zhu Hongyang , Grigoriev Alexei , Zhu Peifen 
Published: June 2022

AbstractDoping of CsPbBr3 perovskite nanocrystals (PNCs) to achieve excellent material properties is accelerating due to their increasing use in optoelectronic devices. Herein, a novel composite of CsPbBr3 PNCs with nickel thiocyanate Ni(SCN)2 is reported, exhibiting stronger photoluminescence (PL) and more extended stability. The addition of Ni(SCN)2 at different molar concentrations reduces the surface trap states of the host PNCs. Therefore, the microstrain, dislocation density, PL emission linewidth, and Urbach energy decrease, resulting in an increased photoluminescence quantum yield (PLQY) from 72% to high above 90%. When stored in the ambient atmosphere for 120 days, the PLQY of doped PNCs is maintained by more than four times compared to host PNCs. A combination of 3D‐printed conversion layers containing green‐, yellow‐, and red‐emitting doped PNCs with blue light‐emitting diodes results in stable white light with superior color qualities. Hence, new composites with desired properties are developed as an alternative to conventional color phosphors.
Exposure Surface Active Sites of Perovskite‐Type LaFeO3 Gas Sensors by Selectively Dissolving La Cations for Enhancing Gas Sensing Properties to Acetone
Authors: Qin Wenbo , Zhang Renze , Yuan Zhenyu , Shen Yanbai , Wang Gongming , Meng Fanli 
Published: June 2022

AbstractWhile perovskite metal oxide semiconductors (MOS) gas sensors have great potential for detecting various hazardous gases, the surface enrichment of inactive A‐sites severely limits their ability to obtain excellent gas sensing properties. Herein, one simple and facile citric acid etching method is reported with the aim of significantly improving the acetone sensing properties of perovskite LaFeO3 (LFO) by surface structure optimization. Structural characterization shows that citric acid selectively solubilized the A‐site cations and inhibits the occurrence of La segregation on the surface without destroying the perovskite structure, thus increasing the exposure of the active site Fe. At the operating temperature of 200 °C, the response of etched LFO for 20 ppm acetone reaches 50, which is almost 12 times higher than that of pristine LFO sample. Meanwhile, the etched LFO samples also exhibit low detection limits (50 ppb), good selectivity, and stability. The enhanced gas sensitivity is attributed to near‐perfect surface metal ion ratio (La/Fe atomic ratio = 0.97) and abundant oxygen species concentration. This work provides an avenue to enhance the acetone sensing properties and beyond by intentional structural modification, which not only has great scientific meaning, but also valuable potential for industrial and domestic applications.