bluuebunny/crossref_metadata_2025 huggingface dataset:
Topographic Wetness Index as a Proxy for Soil Moisture: The Importance of Flow‐Routing Algorithm and Grid Resolution
Authors: Riihimäki H. , Kemppinen J. , Kopecký M. , Luoto M.
Published: October 2021

The Topographic Wetness Index (TWI) is a commonly used proxy for soil moisture. The predictive capability of TWI is influenced by the flow‐routing algorithm and the resolution of the Digital Elevation Model (DEM) that TWI is derived from. Here, we examine the predictive capability of TWI using 11 flow‐routing algorithms at DEM resolutions 1–30 m. We analyze the relationship between TWI and field‐quantified soil moisture using statistical modeling methods and 5,200 study plots with over 46 000 soil moisture measurements. In addition, we test the sensitivity of the flow‐routing algorithms against vertical height errors in DEM at different resolutions. The results reveal that the overall predictive capability of TWI was modest. The highest r2 (23.7%) was reached using a multiple‐flow‐direction algorithm at 2 m resolution. In addition, the test of sensitivity against height errors revealed that the multiple‐flow‐direction algorithms were also more robust against DEM errors than single‐flow‐direction algorithms. The results provide field‐evidence indicating that at its best TWI is a modest proxy for soil moisture and its predictive capability is influenced by the flow‐routing algorithm and DEM resolution. Thus, we encourage careful evaluation of algorithms and resolutions when using TWI as a proxy for soil moisture.
Contending With Water Shortages in the Pacific: Performance of Private Rainwater Tanks Versus Communal Rainwater Tanks in Rural Vanuatu
Authors: Foster T. , Rand E. C. , Kotra K. K. , Sami E. , Willetts J.
Published: October 2021

Around 2 million people in the Pacific depend on rainwater collection for their drinking water, however these systems often struggle to provide sufficient quantities of water year round. This study examined the performance of 1,878 rainwater tanks across 19 islands in Vanuatu to assess whether the likelihood of a sufficient year‐round supply of drinking water differed between village‐level rainwater tanks used communally and private rainwater tanks owned by individual households (i.e., self‐supply). More than half of the tanks assessed failed to provide a sufficient supply of water year round. Compared with communal rainwater tanks, private rainwater tanks had significantly higher odds of a sufficient year‐round supply of water (adjusted odds ratio 1.61, 95% confidence interval 1.24–2.09, p < 0.001). This relationship was evident when adjusting for village‐level clustering, year of installation, presence of other improved water sources, tank volume, number of users, and a proxy indicator for rainfall. Private rainwater tanks outperformed communal rainwater tanks irrespective of whether communal tanks were managed by a community‐based committee. The findings support the notion that in some circumstances private property rights can help avert resource depletion, and that household self‐supply is capable of delivering a more reliable water supply than community‐based management. However, the study design was unable to rule out differences in roof catchment area as a factor influencing the results. Further work is needed to confirm and elucidate the mechanisms by which private ownership facilitates a year‐round supply and understand the wider advantages and disadvantages of self‐supply.
Gm364 coordinates MIB2/DLL3/Notch2 to regulate female fertility through AKT activation
Authors: Chen Liang-Jian , Zhang Na-Na , Zhou Chun-Xiang , Yang Zhi-Xia , Li Yan-Ru , Zhang Teng , Li Cong-Rong , Wang Xin , Wang Yang , Wang Zi-Bin , Xia Zheng-Rong , Wang Zhen-Bo , Zhang Cui-Lian , Guan Yi-Chun , Sun Qing-Yuan , Zhang Dong
Published: October 2021

Many integral membrane proteins might act as indispensable coordinators in specific functional microdomains to maintain the normal operation of known receptors, such as Notch. Gm364 is a multi-pass transmembrane protein that has been screened as a potential female fertility factor. However, there have been no reports to date about its function in female fertility. Here, we found that global knockout ofGm364decreased the numbers of primordial follicles and growing follicles, impaired oocyte quality as indicated by increased ROS and γ-H2AX, decreased mitochondrial membrane potential, decreased oocyte maturation, and increased aneuploidy. Mechanistically, Gm364 directly binds and anchors MIB2, a ubiquitin ligase, on the membrane. Subsequently, membrane MIB2 ubiquitinates and activates DLL3. Next, the activated DLL3 binds and activates Notch2, which is subsequently cleaved within the cytoplasm to produce NICD2, the intracellular active domain of Notch2. Finally, NICD2 can directly activate AKT within the cytoplasm to regulate oocyte meiosis and quality.
Elevated expression of nuclear receptor-binding SET domain 3 promotes pancreatic cancer cell growth
Authors: Sun Yihui , Xie Jiaming , Cai Shang , Wang Qian , Feng Zhenyu , Li Yecheng , Lu Jing-jing , Chen Wei , Ye Zhenyu
Published: October 2021

The nuclear receptor-binding SET domain 3 (NSD3) catalyzes methylation of histone H3 at lysine 36 (H3K36), and promotes malignant transformation and progression of human cancer. Its expression, potential functions and underlying mechanisms in pancreatic cancer are studied. Bioinformatics studies and results from local human tissues show that NSD3 is upregulated in human pancreatic cancer tissues, which is correlated with poor overall survival. In primary and established pancreatic cancer cells, NSD3 silencing (by shRNAs) or CRISPR/Cas9-induced NSD3 knockout potently inhibited cell proliferation, migration and invasion, while provoking cell cycle arrest and apoptosis. Conversely, ectopic expression of NSD3-T1232A mutation significantly accelerated proliferation, migration, and invasion of pancreatic cancer cells. H3K36 dimethylation, expression of NSD3-dependent genes (Prkaa2, Myc, Irgm1, Adam12, and Notch3), and mTOR activation (S6K1 phosphorylation) were largely inhibited by NSD3 silencing or knockout. In vivo, intratumoral injection of adeno-associated virus (AAV)-packed NSD3 shRNA potently inhibited pancreatic cancer xenograft growth in nude mice. These results suggest that elevated NSD3 could be an important driver for the malignant progression of pancreatic cancer.
ECHS1, an interacting protein of LASP1, induces sphingolipid-metabolism imbalance to promote colorectal cancer progression by regulating ceramide glycosylation
Authors: Li Rui , Hao Yanyu , Wang Qiuhan , Meng Yuan , Wu Kunhe , Liu Chaoqun , Xu Lijun , Liu Ziguang , Zhao Liang
Published: October 2021

Sphingolipid metabolic dysregulation has increasingly been considered to be a drug-resistance mechanism for a variety of tumors. In this study, through an LC–MS assay, LIM and SH3 protein 1 (LASP1) was identified as a sphingolipid-metabolism-involved protein, and short-chain enoyl-CoA hydratase (ECHS1) was identified as a new LASP1-interacting protein through a protein assay in colorectal cancer (CRC). Gain- and loss-of-function analyses demonstrated the stimulatory role played by ECHS1 in CRC cell proliferation, migration, and invasion in vitro and in vivo. Mechanistic studies of the underlying tumor-supportive oncometabolism indicate that ECHS1 enables altering ceramide (Cer) metabolism that increases glycosphingolipid synthesis (HexCer) by promoting UDP-glucose ceramide glycosyltransferase (UGCG). Further analysis showed that ECHS1 promotes CRC progression and drug resistance by releasing reactive oxygen species (ROS) and interfering mitochondrial membrane potential via the PI3K/Akt/mTOR-dependent signaling pathway. Meanwhile, the phenomenon of promoting the survival and drug resistance of CRC cells caused by ECHS1 could be reversed by Eliglustat, a specific inhibitor of UCCG, in vitro and in vivo. IHC assay showed that ECHS1 was overexpressed in CRC tissues, which was related to the differentiation and poor prognosis of CRC patients. This study provides new insight into the mechanism by which phospholipids promote drug resistance in CRC and identifies potential targets for future therapies.
Long noncoding RNAs: fine-tuners hidden in the cancer signaling network
Authors: Zhao Shanshan , Zhang Xue , Chen Shuo , Zhang Song
Published: October 2021

With the development of sequencing technology, a large number of long non-coding RNAs (lncRNAs) have been identified in addition to coding genes. LncRNAs, originally considered as junk RNA, are dysregulated in various types of cancer. Although protein-coding signaling pathways underlie various biological activities, and abnormal signal transduction is a key trigger and indicator for tumorigenesis and cancer progression, lncRNAs are sparking keen interest due to their versatile roles in fine-tuning signaling pathways. We are just beginning to scratch the surface of lncRNAs. Therefore, despite the fact that lncRNAs drive malignant phenotypes from multiple perspectives, in this review, we focus on important signaling pathways modulated by lncRNAs in cancer to demonstrate an up-to-date understanding of this emerging field.
Exosome-transmitted circCOG2 promotes colorectal cancer progression via miR-1305/TGF-β2/SMAD3 pathway
Authors: Gao Lei , Tang Xiaolong , He Qingsi , Sun Guorui , Wang Chao , Qu Hui
Published: October 2021

Circular RNAs (circRNA) are abundantly present in the exosome. Yet, the role of exosome-transmitted circRNA in colorectal cancer (CRC) remains unclear. In this study, we examined the function and mechanism of circCOG2 in CRC. We analyzed the expression of circCOG2 in CRC tissues, plasmas, and exosomes by qRT-PCR. The function of circCOG2 was evaluated by CCK-8, clone formation, transwell and wound healing assay, and using an in vivo study; while its mechanism was analyzed using a dual luciferase reporter assay, RNA pull-down assay, Western blot, and rescue experiments. We found that circCOG2 was increased in CRC tissues, plasmas, and exosomes. Upregulated circCOG2 promoted CRC proliferation, migration, and invasion through the miR-1305/TGF-β2/SMAD3 pathway, and this effect could be transmitted from CRC cells with the high metastatic potential to CRC cells with low metastatic potential by exosomes. Our results revealed that circCOG2 is correlated with poor prognosis and may be used as a therapeutic target for CRC.
Genetics of diaphragmatic hernia
Authors: Schreiner Yannick , Schaible Thomas , Rafat Neysan
Published: October 2021

Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal prognostication parameter to predict clinical outcome in CDH patients. Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarises the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia.
Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination
Authors: Setton Jeremy , Selenica Pier , Mukherjee Semanti , Shah Rachna , Pecorari Isabella , McMillan Biko , Pei Isaac X. , Kemel Yelena , Ceyhan-Birsoy Ozge , Sheehan Margaret , Tkachuk Kaitlyn , Brown David N. , Zhang Liying , Cadoo Karen , Powell Simon , Weigelt Britta , Robson Mark , Riaz Nadeem , Offit Kenneth , Reis-Filho Jorge S. , Mandelker Diana
Published: October 2021

Pathogenic germline mutations in the RAD51 paralog genes RAD51C and RAD51D, are known to confer susceptibility to ovarian and triple-negative breast cancer. Here, we investigated whether germline loss-of-function variants affecting another RAD51 paralog gene, RAD51B, are also associated with breast and ovarian cancer. Among 3422 consecutively accrued breast and ovarian cancer patients consented to tumor/germline sequencing, the observed carrier frequency of loss-of-function germline RAD51B variants was significantly higher than control cases from the gnomAD population database (0.26% vs 0.09%), with an odds ratio of 2.69 (95% CI: 1.4–5.3). Furthermore, we demonstrate that tumors harboring biallelic RAD51B alteration are deficient in homologous recombination DNA repair deficiency (HRD), as evidenced by analysis of sequencing data and in vitro functional assays. Our findings suggest that RAD51B should be considered as an addition to clinical germline testing panels for breast and ovarian cancer susceptibility.
You read my mind: fMRI markers of threatening appraisals in people with persistent psychotic experiences
Authors: Underwood Raphael , Mason Liam , O’Daly Owen , Dalton Jeffrey , Simmons Andrew , Barker Gareth J. , Peters Emmanuelle , Kumari Veena
Published: October 2021

Anomalous perceptual experiences are relatively common in the general population. Evidence indicates that the key to distinguishing individuals with persistent psychotic experiences (PEs) with a need for care from those without is how they appraise their anomalous experiences. Here, we aimed to characterise the neural circuits underlying threatening and non-threatening appraisals in people with and without a need for care for PEs, respectively. A total of 48 participants, consisting of patients with psychosis spectrum disorder (clinical group, n = 16), non-need-for-care participants with PEs (non-clinical group, n = 16), and no-PE healthy control participants (n = 16), underwent functional magnetic resonance imaging while completing the Telepath task, designed to induce an anomalous perceptual experience. Appraisals of the anomalous perceptual experiences were examined, as well as functional brain responses during this window, for significant group differences. We also examined whether activation co-varied with the subjective threat appraisals reported in-task by participants. The clinical group reported elevated subjective threat appraisals compared to both the non-clinical and no-PE control groups, with no differences between the two non-clinical groups. This pattern of results was accompanied by reduced activation in the superior and inferior frontal gyri in the clinical group as compared to the non-clinical and control groups. Precuneus activation scaled with threat appraisals reported in-task. Resilience in the context of persistent anomalous experiences may be explained by intact functioning of fronto-parietal regions, and may correspond to the ability to contextualise and flexibly evaluate psychotic experiences.
Multiscale and integrative single-cell Hi-C analysis with Higashi
Authors: Zhang Ruochi , Zhou Tianming , Ma Jian
Published: October 2021

Single-cell Hi-C (scHi-C) can identify cell-to-cell variability of three-dimensional (3D) chromatin organization, but the sparseness of measured interactions poses an analysis challenge. Here we report Higashi, an algorithm based on hypergraph representation learning that can incorporate the latent correlations among single cells to enhance overall imputation of contact maps. Higashi outperforms existing methods for embedding and imputation of scHi-C data and is able to identify multiscale 3D genome features in single cells, such as compartmentalization and TAD-like domain boundaries, allowing refined delineation of their cell-to-cell variability. Moreover, Higashi can incorporate epigenomic signals jointly profiled in the same cell into the hypergraph representation learning framework, as compared to separate analysis of two modalities, leading to improved embeddings for single-nucleus methyl-3C data. In an scHi-C dataset from human prefrontal cortex, Higashi identifies connections between 3D genome features and cell-type-specific gene regulation. Higashi can also potentially be extended to analyze single-cell multiway chromatin interactions and other multimodal single-cell omics data.
SMAP-HydroBlocks, a 30-m satellite-based soil moisture dataset for the conterminous US
Authors: Vergopolan Noemi , Chaney Nathaniel W. , Pan Ming , Sheffield Justin , Beck Hylke E. , Ferguson Craig R. , Torres-Rojas Laura , Sadri Sara , Wood Eric F.
Published: October 2021

Soil moisture plays a key role in controlling land-atmosphere interactions, with implications for water resources, agriculture, climate, and ecosystem dynamics. Although soil moisture varies strongly across the landscape, current monitoring capabilities are limited to coarse-scale satellite retrievals and a few regional in-situ networks. Here, we introduce SMAP-HydroBlocks (SMAP-HB), a high-resolution satellite-based surface soil moisture dataset at an unprecedented 30-m resolution (2015–2019) across the conterminous United States. SMAP-HB was produced by using a scalable cluster-based merging scheme that combines high-resolution land surface modeling, radiative transfer modeling, machine learning, SMAP satellite microwave data, and in-situ observations. We evaluated the resulting dataset over 1,192 observational sites. SMAP-HB performed substantially better than the current state-of-the-art SMAP products, showing a median temporal correlation of 0.73 ± 0.13 and a median Kling-Gupta Efficiency of 0.52 ± 0.20. The largest benefit of SMAP-HB is, however, the high spatial detail and improved representation of the soil moisture spatial variability and spatial accuracy with respect to SMAP products. The SMAP-HB dataset is available via zenodo and at https://waterai.earth/smaphb.
Evaluation of MODIS-derived estimates of the albedo over the Atacama Desert using ground-based spectral measurements
Authors: Cordero Raúl R. , Feron Sarah , Sepúlveda Edgardo , Damiani Alessandro , Carrera Juan M. , Jorquera Jose , Alfonso Juan A. , Fuenzalida Rosalino , Rivas Miguel , MacDonell Shelley , Seckmeyer Gunther , Wang Chenghao , Ouyang Zutao , Lhermitte Stef
Published: October 2021

Surface albedo is an important forcing parameter that drives the radiative energy budget as it determines the fraction of the downwelling solar irradiance that the surface reflects. Here we report on ground-based measurements of the spectral albedo (350–2200 nm) carried out at 20 sites across a North–South transect of approximately 1300 km in the Atacama Desert, from latitude 18° S to latitude 30° S. These spectral measurements were used to evaluate remote sensing estimates of the albedo derived from the Moderate Resolution Imaging Spectroradiometer (MODIS). We found that the relative mean bias error (RMBE) of MODIS-derived estimates was within ± 5% of ground-based measurements in most of the Atacama Desert (18–27° S). Although the correlation between MODIS-derived estimates and ground-based measurements remained relatively high (R= 0.94), RMBE values were slightly larger in the southernmost part of the desert (27–30° S). Both MODIS-derived data and ground-based measurements show that the albedo at some bright spots in the Atacama Desert may be high enough (up to 0.25 in visible range) for considerably boosting the performance of bifacial photovoltaic technologies (6–12%).
Perception of yips among professional Japanese golfers: perspectives from a network modelled approach
Authors: Revankar Gajanan S. , Kajiyama Yuta , Gon Yasufumi , Ogasawara Issei , Hattori Noriaki , Nakano Tomohito , Kawamura Sadahito , Ugawa Yoshikazu , Nakata Ken , Mochizuki Hideki
Published: October 2021

‘Yips’ in golf is a complex spectrum of anxiety and movement-disorder that affects competitive sporting performance. With unclear etiology and high prevalence documented in western literature, the perception and management of this psycho-neuromuscular problem among Japanese elite golfers is unknown. The objective of this study was to explore factors associated with yips, investigate the performance deficits and the strategies implemented to prevent yips. We surveyed approx. 1300 professional golfers on their golfing habits, anxiety and musculoskeletal problems, kinematic deficits, changes in training and their outcomes. Statistical procedures included multiple logistic regression and network analysis. 35% of the respondents had experienced yips in their career, their odds increasing proportionally to their golfing experience. Regardless of musculoskeletal symptoms, about 57% of all yips-golfers attributed their symptoms to psychological causes. Network analysis highlighted characteristic movement patterns, i.e. slowing, forceful or freezing of movement for putting, approach and teeing shots respectively. Golfers’ self-administered strategies to relieve yips were mostly inconsequential. Within the limits of our self-reported survey, most golfers perceived yips as a psychological phenomenon despite evidence pointing to a movement-disorder. While self-administered interventions were satisfactory at best, it may be imperative to sensitize golfers from a movement-disorder standpoint for early management of the problem.
Distinct roles of haspin in stem cell division and male gametogenesis
Authors: Soupsana Katerina , Karanika Eleftheria , Kiosse Fani , Christogianni Anastasia , Sfikas Yiorgos , Topalis Pantelis , Batistatou Anna , Kanaki Zoi , Klinakis Apostolos , Politou Anastasia S. , Georgatos Spyros
Published: October 2021

The kinase haspin phosphorylates histone H3 at threonine-3 (H3T3ph) during mitosis. H3T3ph provides a docking site for the Chromosomal Passenger Complex at the centromere, enabling correction of erratic microtubule-chromosome contacts. Although this mechanism is operational in all dividing cells, haspin-null mice do not exhibit developmental anomalies, apart from aberrant testis architecture. Investigating this problem, we show here that mouse embryonic stem cells that lack or overexpress haspin, albeit prone to chromosome misalignment during metaphase, can still divide, expand and differentiate. RNA sequencing reveals that haspin dosage affects severely the expression levels of several genes that are involved in male gametogenesis. Consistent with a role in testis-specific expression, H3T3ph is detected not only in mitotic spermatogonia and meiotic spermatocytes, but also in non-dividing cells, such as haploid spermatids. Similarly to somatic cells, the mark is erased in the end of meiotic divisions, but re-installed during spermatid maturation, subsequent to methylation of histone H3 at lysine-4 (H3K4me3) and arginine-8 (H3R8me2). These serial modifications are particularly enriched in chromatin domains containing histone H3 trimethylated at lysine-27 (H3K27me3), but devoid of histone H3 trimethylated at lysine-9 (H3K9me3). The unique spatio-temporal pattern of histone H3 modifications implicates haspin in the epigenetic control of spermiogenesis.
First-in-class topical therapeutic omilancor ameliorates disease severity and inflammation through activation of LANCL2 pathway in psoriasis
Authors: Tubau-Juni Nuria , Hontecillas Raquel , Leber Andrew , Maturavongsadit Panita , Chauhan Jyoti , Bassaganya-Riera Josep
Published: October 2021

Psoriasis (PsO) is a complex immune-mediated disease that afflicts 100 million people. Omilancor is a locally-acting, small molecule that selectively activates the Lanthionine Synthetase C-like 2 (LANCL2) pathway, resulting in immunoregulatory effects at the intersection of immunity and metabolism. Topical omilancor treatment in an imiquimod-induced mouse model of PsO ameliorates disease severity, epidermal hyperplasia and acanthosis. Further, pharmacological activation of LANCL2 results in significant downregulation of proinflammatory markers including local reduction of IL17, and infiltration of proinflammatory cell subsets. These therapeutic effects were further validated in an IL-23 PsO model. This model reported increased preservation of homeostatic skin structure, accompanied by a decreased infiltration of proinflammatory T cell subsets. In CD4+ T cells and Th17 cells, the LANCL2 pathway regulates proinflammatory cytokine production, proliferation and glucose metabolism. Metabolically, the loss of Lancl2 resulted in increased glycolytic rates, lactate production and upregulated enzymatic activity of hexokinase and lactate dehydrogenase (LDH). Inhibition of LDH activity abrogated the increased proliferation rate in Lancl2−/− CD4+ T cells. Additionally, topical omilancor treatment decreased the metabolic upregulation in keratinocytes, keratinocyte hyperproliferation and expression of inflammatory markers. Omilancor is a promising topical, LANCL2-targeting therapeutic candidate for the treatment of PsO and other dermatology indications.
Dual-ligated metal organic framework as novel multifunctional nanovehicle for targeted drug delivery for hepatic cancer treatment
Authors: Fytory Mostafa , Arafa Kholoud K. , El Rouby Waleed M. A. , Farghali Ahmed A. , Abdel-Hafiez Mahmoud , El-Sherbiny Ibrahim M.
Published: October 2021

In the last decade, nanosized metal organic frameworks (NMOFs) have gained an increasing applicability as multifunctional nanocarriers for drug delivery in cancer therapy. However, only a limited number of platforms have been reported that can serve as an effective targeted drug delivery system (DDSs). Herein, we report rational design and construction of doxorubicin (DOX)-loaded nanoscale Zr (IV)-based NMOF (NH2-UiO-66) decorated with active tumor targeting moieties; folic acid (FA), lactobionic acid (LA), glycyrrhetinic acid (GA), and dual ligands of LA and GA, as efficient multifunctional DDSs for hepatocellular carcinoma (HCC) therapy. The success of modification was exhaustively validated by various structural, thermal and microscopic techniques. Biocompatibility studies indicated the safety of pristine NH2-UiO-66 against HSF cells whereas DOX-loaded dual-ligated NMOF was found to possess superior cytotoxicity against HepG2 cells which was further confirmed by flow cytometry. Moreover, fluorescence microscopy was used for monitoring cellular uptake in comparison to the non-ligated and mono-ligated NMOF. Additionally, the newly developed dual-ligated NMOF depicted a pH-responsiveness towards the DOX release. These findings open new avenues in designing various NMOF-based DDSs that actively target hepatic cancer to achieve precise therapy.
An observational study investigating the CRY1Δ11 variant associated with delayed sleep–wake patterns and circadian metabolic output
Authors: Smieszek Sandra P. , Brzezynski Jennifer L. , Kaden Alyssa R. , Shinn Jordan A. , Wang Jingyuan , Xiao Changfu , Polymeropoulos Christos , Özçelik Tayfun , Polymeropoulos Mihael H.
Published: October 2021

We conducted an observational research study to collect information on sleep–wake patterns from participants with a confirmed status of the cryptochrome circadian clock 1 (CRY1) splicing variant, CRY1Δ11 c.1657 + 3A > C, and their controls, defined as wild-type (WT) family members. Altogether, 67 participants were enrolled and completed this study in Turkey, recruited from a list of families with at least one CRY1-confirmed member. We measured sleep–wake patterns and metabolic output, specifically time and frequency of bowel movements, for all participants by daily post-sleep diaries over 28 days. The sleep diary measured self-reported bed time, wake time, midpoint of sleep, and latency to persistent sleep (LPS), and accounted for naps and awakenings for religious purposes. Wake time and midpoint of sleep were significantly later in the CRY1Δ11 variant group versus WT, and LPS was significantly greater in participants in the CRY1Δ11 variant group. The mean bed time on all nights of sleep was later in participants with a CRY1Δ11 variant versus WT. Additionally, participants with a CRY1Δ11 variant had significantly affected metabolic outputs, measured by later bowel movements than WT participants. These results demonstrate that, on average, individuals with the studied splicing variant experience pronounced delays in sleep period and circadian-related metabolic processes.
Effect of changes in Breslow thickness between the initial punch biopsy results and final pathology reports in acral lentiginous melanoma patients
Authors: Kim Tae Hyung , Kim Jin Cheol , Kwon Ji Eun , Kim You Chan , Choi Jee Woong
Published: October 2021

Acral lentiginous melanoma (ALM) is the most common subtype of cutaneous melanoma among Asians; punch biopsy is widely performed for its diagnosis. However, the pathologic parameters evaluated via punch biopsy may not be sufficient for predicting disease prognosis compared to the parameters evaluated via excisional biopsy. We investigated whether changes in Breslow thickness (BT) between initial punch biopsy results and final pathology reports can affect the prognosis of ALM. Pathologic parameters were recorded from specimens acquired through the initial punch biopsy and wide excision. Patients were classified into two groups based on a change in Breslow depth: the BT increased or decreased on comparing the samples from the initial punch biopsy and final wide excision. We compared clinical characteristics, and a Cox regression model was used to identify independent prognostic factors influencing melanoma-specific death (MSD). Changes in BT did not affect MSD (hazard ratio [HR]: 0.55, P = 0.447). In multivariate analysis, a higher BT (> 2 mm) (HR: 9.93, P = 0.046) and nodal metastasis (HR: 5.66, P = 0.041) were significantly associated with an increased MSD risk. The use of punch biopsy did not affect MSD despite the inaccuracy of BT measurement as long as ALM was accurately diagnosed.
The effect of phacoemulsification performed with vitrectomy on choroidal vascularity index in eyes with vitreomacular diseases
Authors: Chun Heejeong , Kim Joo Young , Kwak Jae Hyuck , Kim Rae Young , Kim Mirinae , Park Young-Gun , Park Young-Hoon
Published: October 2021

This study evaluated the effects of cataract surgery combined with pars plana vitrectomy (ppV) on choroidal vascularity index (CVI) in eyes with epiretinal membrane (ERM) and full thickness macular hole (FTMH). Medical records of 132 eyes with ERM or FTMH were retrospectively reviewed and classified into a ppV group and a ppV combined with cataract surgery group (phaco + ppV group). The CVI were measured at baseline, 1, 3 and 6 months after the surgery, using the selected swept-source (SS) optical coherence tomography (OCT) scan passing through the central fovea, which was then segmented into luminal and stromal area by image binarization. The mean CVI of phaco + ppV group were 61.25 ± 1.97%, 61.66 ± 1.81%, and 62.30 ± 1.92% at baseline, 1 and 3 months, respectively (p < 0.001). The mean CVI of ppV group were 62.69 ± 1.92%, 62.03 ± 1.51%, and 61.45 ± 1.71% at baseline, 1 and 3 months, respectively (p < 0.001). The final CVI were measured at 6 months and compared with the baseline CVI. The mean CVI of phaco + ppV group were 61.21 ± 1.99% at baseline and 60.68 ± 2.02% at 6 months (p < 0.001). The mean CVI of ppV group were 62.93 ± 1.70% at baseline and 61.77 ± 1.74% at 6 months (p < 0.001). Vitrectomy significantly decreases CVI in vitreomacular diseases possibly due to the removal of vitreomacular traction or postoperative oxygenation change in the eye. On the contrary, combined surgery of vitrectomy and cataract surgery significantly increases CVI in the early stage of postoperative period, which suggests choroidal vascular dilatation or congestion due to postoperative inflammation. Although the CVI were measured lower than the baseline in the end, more thorough inflammation control may be essential after combined surgery.
Identification of loci associated with pathological outcomes in Holstein cattle infected with Mycobacterium avium subsp. paratuberculosis using whole-genome sequence data
Authors: Canive Maria , Badia-Bringué Gerard , Vázquez Patricia , González-Recio Oscar , Fernández Almudena , Garrido Joseba M. , Juste Ramón A. , Alonso-Hearn Marta
Published: October 2021

Bovine paratuberculosis (PTB), caused by Mycobacterium avium subsp. paratuberculosis (MAP), is a chronic granulomatous enteritis that affects cattle worldwide. According to their severity and extension, PTB-associated histological lesions have been classified into the following groups; focal, multifocal, and diffuse. It is unknown whether these lesions represent sequential stages or divergent outcomes. In the current study, the associations between host genetic and pathology were explored by genotyping 813 Spanish Holstein cows with no visible lesions (N = 373) and with focal (N = 371), multifocal (N = 33), and diffuse (N = 33) lesions in gut tissues and regional lymph nodes. DNA from peripheral blood samples of these animals was genotyped with the bovine EuroG MD Bead Chip, and the corresponding genotypes were imputed to whole-genome sequencing (WGS) data using the 1000 Bull genomes reference population. A genome-wide association study (GWAS) was performed using the WGS data and the presence or absence of each type of histological lesion in a case–control approach. A total of 192 and 92 single nucleotide polymorphisms (SNPs) defining 13 and 9 distinct quantitative trait loci (QTLs) were highly-associated (P ≤ 5 × 10−7) with the multifocal (heritability = 0.075) and the diffuse (heritability = 0.189) lesions, respectively. No overlap was seen in the SNPs controlling these distinct pathological outcomes. The identified QTLs overlapped with some QTLs previously associated with PTB susceptibility, bovine tuberculosis susceptibility, clinical mastitis, somatic cell score, bovine respiratory disease susceptibility, tick resistance, IgG level, and length of productive life. Pathway analysis with candidate genes overlapping the identified QTLs revealed a significant enrichment of the keratinization pathway and cholesterol metabolism in the animals with multifocal and diffuse lesions, respectively. To test whether the enrichment of SNP variants in candidate genes involved in the cholesterol metabolism was associated with the diffuse lesions; the levels of total cholesterol were measured in plasma samples of cattle with focal, multifocal, or diffuse lesions or with no visible lesions. Our results showed reduced levels of plasma cholesterol in cattle with diffuse lesions. Taken together, our findings suggested that the variation in MAP-associated pathological outcomes might be, in part, genetically determined and indicative of distinct host responses.
Determination of aortic pulse transit time based on waveform decomposition of radial pressure wave
Authors: Liu Wenyan , Song Daiyuan , Yao Yang , Qi Lin , Hao Liling , Yang Jun , Ning Hongxia , Xu Lisheng
Published: October 2021

Carotid-femoral pulse transit time (cfPTT) is a widely accepted measure of central arterial stiffness. The cfPTT is commonly calculated from two synchronized pressure waves. However, measurement of synchronized pressure waves is technically challenging. In this paper, a method of decomposing the radial pressure wave is proposed for estimating cfPTT. From the radial pressure wave alone, the pressure wave can be decomposed into forward and backward waves by fitting a double triangular flow wave. The first zero point of the second derivative of the radial pressure wave and the peak of the dicrotic segment of radial pressure wave are used as the peaks of the fitted double triangular flow wave. The correlation coefficient between the measured wave and the estimated forward and backward waves based on the decomposition of the radial pressure wave was 0.98 and 0.75, respectively. Then from the backward wave, cfPTT can be estimated. Because it has been verified that the time lag estimation based on of backward wave has strong correlation with the measured cfPTT. The corresponding regression function between the time lag estimation of backward wave and measured cfPTT is y = 0.96x + 5.50 (r = 0.77; p < 0.001). The estimated cfPTT using radial pressure wave decomposition based on the proposed double triangular flow wave is more accurate and convenient than the decomposition of the aortic pressure wave based on the triangular flow wave. The significance of this study is that arterial stiffness can be directly estimated from a noninvasively measured radial pressure wave.
Capsule endoscopy findings reflect the gastrointestinal conditions of patients with systemic sclerosis
Authors: Iio Sumio , Oka Shiro , Tanaka Shinji , Sumioka Akihiko , Tsuboi Akiyoshi , Nojima Takaki , Hirata Shintaro , Matsuo Yoshimi , Sugiyama Eiji , Hide Michihiro , Arihiro Koji , Chayama Kazuaki
Published: October 2021

Systemic sclerosis (SSc) is characterized by fibrosis of the skin and various internal organs. However, there is limited knowledge concerning small-bowel lesions. We evaluated the clinical state of patients with SSc according to the capsule endoscopy (CE) findings. Sixty-five consecutive patients with SSc (61 females; mean age, 64.3 years) underwent CE at Hiroshima University Hospital between April 2012 and December 2019. SSc was subclassified into diffuse and limited cutaneous SSc. Among the 65 patients, 55 (51 females; mean age, 64.5 years; diffuse cutaneous SSc, 27 patients) were evaluated for the presence of fibrosis in the gastrointestinal tract by biopsy. Small-bowel lesions were detected in 27 (42%) patients with SSc. Type 1b angioectasia (Yano-Yamamoto classification) was more frequent in limited cutaneous SSc patients (p = 0.0071). The average capsule transit time of the esophagus was significantly longer in diffuse cutaneous SSc patients (p = 0.0418). There were more cases of Type 1a angioectasia in SSc patients without fibrosis. The average capsule transit time of the esophagus was significantly longer in SSc patients with fibrosis. Thus, this study revealed that the frequency of small-bowel angioectasia and gastrointestinal motility in patients with SSc differed depending on SSc subclassification and the presence of fibrosis.
A room-temperature rechargeable dual-plating lithium–aluminium battery
Authors: Xiong Fangyu , Jiang Zhouyang , Tan Shuangshuang , An Qinyou
Published: October 2021

A room-temperature Li–Al battery based on aluminium plating/stripping on cathode side and lithium stripping/plating on the anode side was proposed, which possesses a high theoretical energy density.
α-MnO2/MWCNTs as an electrocatalyst for rechargeable relatively closed system Li–O2 batteries
Authors: Wu Min , Liu Dechong , Li Zhuxin , Tang Yu , Ding Yajun , Li Yuejiao , Wu Zhong-Shuai , Zhao Hong
Published: October 2021

The RCLO battery that requires no extra O2 to be introduced into the reaction system during the reaction processes.
A simple one-pot route to stable formamidinatoiodidolanthanoid(iii) complexes from lanthanoid metals
Authors: Guo Zhifang , Blair Victoria L. , Deacon Glen B. , Junk Peter C.
Published: October 2021

Formamidinatoiodidolanthanoid(iii) complexes [Ln(Form)nI3−n] (FormH = DFFormH or DippFormH) have been synthesized in good yields by one-pot direct reactions of the corresponding free metals with iodine and DFFormH or DippFormH in suitable ratios.
Electrochemical synthesis of colloidal lead- and bismuth-based perovskite nanocrystals
Authors: Chen Hushui , Chen Jie , Zhao Liang , Zhu Tingshun , Yang Zhenyu
Published: October 2021

Here, we report an electrochemical synthetic approach to prepare colloidal lead- and bismuth-based perovskite nanocrystals with high production yields.
Simultaneous analyte indicator binding assay (SBA) for the monitoring of reversible host–guest complexation kinetics
Authors: Miskolczy Zsombor , Megyesi Mónika , Sinn Stephan , Biedermann Frank , Biczók László
Published: October 2021

Competitive binding of an indicator dye and an optically silent guest was exploited to develop a powerful method for the accurate determination of the kinetic and thermodynamic parameters of host–guest complex formation.
An origami paper-based analytical device for DNA damage analysis
Authors: Xue Wei , Dan Zhao  , Zhang Qiang , Chang Yangyang , Liu Meng
Published: October 2021

A fully integrated origami paper-based analytical device (oPAD) was developed for measuring DNA damage.
An autocatalytic organic reaction network based on cross-catalysis
Authors: Hui Pan , Branca Mathieu , Limoges Benoît , Mavré François
Published: October 2021

A simple autocatalytic organic reaction network based on cross-catalysis is here illustrated. It involves the redox chemistry of quinones and reactive oxygen species, requiring only an pro-quinone boronate probe and ascorbate in an aerated solution.
Competition between diamond nucleation and growth under bias voltage by microwave plasma chemical vapor deposition
Authors: Wang Weihua , Dai Bing , Shu Guoyang , Wang Yang , Fang Shishu , Yang Shilin , Liu Xuedong , Liu Benjian , Xue Ruibin , Zhao Jiwen , Liu Kang , Yang Lei , Han Jiecai , Zhu Jiaqi
Published: October 2021

A competition between diamond nucleation and growth is proposed in which the surface and bulk nucleation coexist and compete.
An overview of the current status and prospects of cathode materials based on transition metal sulfides for magnesium-ion batteries
Authors: Gao Yong-Ping , Xu Jing , Huang Ke-Jing , Lu Hui , Pang Ya-Xi , Li Guo-qiang
Published: October 2021

TMSs as cathode materials used in MIBs.
Hofmeister effects on protein stability are dependent on the nature of the unfolded state
Authors: Ribeiro Sara S. , Castro Tarsila G. , Gomes Cláudio M. , Marcos João C.
Published: October 2021

The physico-chemical nature of the unfolded state determines the ion-specific Hofmeister effects on protein stability, namely the molecular interplay between ion-binding and surface tension effects.
Deciphering the capacitance frequency technique for performance-limiting defect-state parameters in energy-harvesting perovskites
Authors: Nandal Vikas , Agarwal Sumanshu , Nair Pradeep R.
Published: October 2021

Using the capacitance frequency technique, strategies to accurately predict the trap-state parameters of energy conversion in perovskites are developed.
First principles simulations of microscopic mechanisms responsible for the drastic reduction of electrical deactivation defects in Se hyperdoped silicon
Authors: Debernardi Alberto
Published: October 2021

By first principles simulations of Se hyperdoped silicon we explain the drastic reduction of electrical deactivation defects when the dopant population approaches the critical concentration at which the insulator-to-metal transition occurs.
Simultaneous neutron powder diffraction and microwave characterisation at elevated temperatures
Authors: Barter Michael , Smith Gemma , Yang Sihai , Schröder Martin , Jones Martin Owen , Porch Adrian
Published: October 2021

Instrumentation was developed to allow simultaneous neutron powder diffraction with microwave characterisation at elevated temperatures. To validate and demonstrate its capability, results are shown for desolvation of a MOF sample (MFM-170).
Micellar catalysis of the Suzuki Miyaura reaction using biogenic Pd nanoparticles fromDesulfovibrio alaskensis
Authors: Era Yuta , Dennis Jonathan A. , Wallace Stephen , Horsfall Louise E.
Published: October 2021

Nano-micelles meet biogenic Pd nanoparticles at the cell membrane promoting Suzuki Miyaura coupling reactions under mild conditions.
Wearable chem-biosensing devices: from basic research to commercial market
Authors: Yang Bin , Jiang Xingyu , Fang Xueen , Kong Jilie
Published: October 2021

This review aims to help readers engage in wearable fundamental research or wearables commercial market by evaluating the biosensing performance.
Full parameter space exploration of microphase separation of block copolymer brushes within a single simulation framework
Authors: Kim Tae-Yi , Kang Ga Ryang , Kim Myungwoong , Thapar Vikram , Hur Su-Mi
Published: October 2021

Microphase separation of block copolymer brushes on a wide range system variable space is systematically explored using efficient coarse-grained simulations. Enriched phases behaviors and their internal structures are investigated.
Room-temperature synthesis of blue-emissive zero-dimensional cesium indium halide quantum dots for temperature-stable down-conversion white light-emitting diodes with a half-lifetime of 186 h
Authors: Zhang Fei , Ji Xinzhen , Liang Wenqing , Li Ying , Ma Zhuangzhuang , Wang Meng , Wang Yue , Wu Di , Chen Xu , Yang Dongwen , Li Xinjian , Shan Chongxin , Shi Zhifeng
Published: October 2021

Zero-dimensional Cs3InX6 QDs with broadband blue emission were synthesized at room-temperature. A white LED was further fabricated by using Cs3InX6 QDs powder as down-conversion phosphor, demonstrating a remarkable working stability.
Improved SERS sensing on biosynthetically grown self-cleaning plasmonic ZnO nano-leaves
Authors: Juneja Subhavna , Singh Jaspal , Thapa Roshni , Soni R. K. , Bhattacharya Jaydeep
Published: October 2021

Schematic representation of SERS and self-cleaning features of biosynthetically grown ZA nano-hybrids.
Combining potassium with positive oxygen-balanced polynitropyrazole: a promising way to develop green primary explosives
Authors: Guo Benyue , Zhang Xiya , Lin Xiangyang , Huang Haifeng , Yang Jun
Published: October 2021

A novel green primary explosive dipotassium 3,5-dinitro-4-nitramino-1-(dinitromethyl) pyrazole (compound 6) has been synthesized and its physicochemical and energetic properties have been fully characterized.
Elucidating the surface compositions of Pd@PtnL core–shell nanocrystals through catalytic reactions and spectroscopy probes
Authors: Zhai Peng , Shi Yifeng , Wang Qiuxiang , Xia Younan , Ding Kunlun
Published: October 2021

Reaction and spectroscopy probes are exploited to analyze the surface dynamics of Pd@PtnL nanocrystals. When calcined in the presence of oxygen, the underneath Pd atoms migrate out to the surface, causing changes to the surface composition.
Planar chiral boron difluoride complexes showing circularly polarized luminescence
Authors: Chen Chun-Hua , Zheng Wen-Hua
Published: October 2021

A novel family of boron difluoride complexes based on [2.2]paracyclophane have been designed and facilely synthesized.
Chlorocyclization/cycloreversion of allylic alcohols to vinyl chlorides
Authors: Ren Li-Qing , He Yu-Shuai , Yang Yu-Ting , Li Zhao-Feng , Xue Zhi-Yong , Li Qing-Hua , Liu Tang-Lin
Published: October 2021

Unprecedented chlorination of allylic alcohols: a simple mix-and-go procedure for the cyclization/cycloreversion of secondary and tertiary allylic alcohols with chloronium ions under mild conditions and practical access to remote carbonyl vinyl chlorides.
Cryo-EM structure of the dimeric Rhodobacter sphaeroides RC-LH1 core complex at 2.9 Å: the structural basis for dimerisation
Authors: Qian Pu , Croll Tristan I. , Hitchcock Andrew , Jackson Philip J. , Salisbury Jack H. , Castro-Hartmann Pablo , Sader Kasim , Swainsbury David J.K. , Hunter C. Neil
Published: October 2021

The dimeric reaction centre light-harvesting 1 (RC-LH1) core complex of Rhodobacter sphaeroides converts absorbed light energy to a charge separation, and then it reduces a quinone electron and proton acceptor to a quinol. The angle between the two monomers imposes a bent configuration on the dimer complex, which exerts a major influence on the curvature of the membrane vesicles, known as chromatophores, where the light-driven photosynthetic reactions take place. To investigate the dimerisation interface between two RC-LH1 monomers, we determined the cryogenic electron microscopy structure of the dimeric complex at 2.9 Å resolution. The structure shows that each monomer consists of a central RC partly enclosed by a 14-subunit LH1 ring held in an open state by PufX and protein-Y polypeptides, thus enabling quinones to enter and leave the complex. Two monomers are brought together through N-terminal interactions between PufX polypeptides on the cytoplasmic side of the complex, augmented by two novel transmembrane polypeptides, designated protein-Z, that bind to the outer faces of the two central LH1 β polypeptides. The precise fit at the dimer interface, enabled by PufX and protein-Z, by C-terminal interactions between opposing LH1 αβ subunits, and by a series of interactions with a bound sulfoquinovosyl diacylglycerol lipid, bring together each monomer creating an S-shaped array of 28 bacteriochlorophylls. The seamless join between the two sets of LH1 bacteriochlorophylls provides a path for excitation energy absorbed by one half of the complex to migrate across the dimer interface to the other half.