Hpo

A novel coumarinylhydrazone fluorescent probe L was designed and synthesized from 4-(diethylamino)salicylaldehyde, its structure was characterized by NMR, IR. Fluorescence emission spectra showed that in ethanol solution, probe L could form a 1:1 complex L-Cu2+ with Cu2+ to realize the "turn-off" detection of Cu2+ with high specificity and sensitivity (3.7 × 10-7  mol/L). Meanwhile, the complex L-Cu2+ had a specific fluorescence-enhanced response to HPO4 2- with a detection limits down to 5...

Skeletal Class III (SCIII) is among the most challenging craniofacial dysmorphologies to treat. There is, however, a knowledge gap regarding which syndromes share this clinical phenotype. The aims of this study were to: (i) identify the syndromes affected by the SCIII phenotype; (ii) clarify the involvement of maxillary and/or mandibular structures; (iii) explore shared genetic/molecular mechanisms. A two-step strategy was designed: [Step#1] OMIM, MHDD, HPO, GeneReviews and MedGen databases were explored; [Step#2]: Syndromic conditions indexed in [Step#1] were explored in Medline, Pubmed, Scopus, Cochrane Library, WOS and OpenGrey...

In order to address the challenges of low recognition accuracy and the difficulty in effective diagnosis in traditional converter transformer voiceprint fault diagnosis, a novel method is proposed in this article. This approach takes account of the impact of load factors, utilizes a multi-strategy improved Mel-Frequency Spectrum Coefficient (MFCC) for voiceprint signal feature extraction, and combines it with a temporal convolutional network for fault diagnosis. Firstly, it improves the hunter-prey optimizer (HPO) as a parameter optimization algorithm and adopts IHPO combined with variational mode decomposition (VMD) to achieve denoising of voiceprint signals...

CTP synthase (CTPS), the rate-limiting enzyme in the de novo synthesis of CTP, assembles into a filamentous structure termed the cytoophidium. The Hippo pathway regulates cell proliferation and apoptosis. The relationship of the nucleotide metabolism with the Hippo pathway is little known. Here, we study the impact of the Hippo pathway on the cytoophidium in Drosophila melanogaster posterior follicle cells (PFCs). We find that the inactivation of the Hippo pathway correlates with reduced cytoophidium length and number within PFCs...

Bismuth vanadate (BVO) is regarded as an exceptional photoanode material for photoelectrochemical (PEC) water splitting, but it is restricted by the severe photocorrosion and slow water oxidation kinetics. Herein, a synergistic strategy combined with a Co3 (HPO4 )2 (OH)2 (CoPH) cocatalyst and an Al2 O3 (ALO) passivation layer was proposed for enhanced PEC performance. The CoPH/ALO/BVO photoanode exhibits an impressive photocurrent density of 4.9 mA cm-2 at 1.23 VRHE and an applied bias photon-to-current efficiency (ABPE) of 1...

BACKGROUND: Retinitis pigmentosa is the prevailing genetic cause of blindness in developed nations with no effective treatments. In the pursuit of unraveling the intricate dynamics underlying this complex disease, mechanistic models emerge as a tool of proven efficiency rooted in systems biology, to elucidate the interplay between RP genes and their mechanisms. The integration of mechanistic models and drug-target interactions under the umbrella of machine learning methodologies provides a multifaceted approach that can boost the discovery of novel therapeutic targets, facilitating further drug repurposing in RP...

UNLABELLED: Iron deficiency anemia (IDA) forms a major share of global burden of anemia. Frequent blood donation is a common iatrogenic cause of iron insufficiency in healthy adults. Serum iron and hemoglobin levels are normal despite low serum ferritin levels, referred to as latent iron deficiency (LID). Aim of the present study was to evaluate the role of novel RBC parameters-percentage of hypochromic RBCs (%HPO), percentage of microcytic RBCs (%MIC), and haemoglobin content of reticulocytes (MCHr) of Abbott Alinity autoanalyzer as indicators of latent iron deficiency in blood donors...

Age at first egg (AFE) has consistently garnered interest as a crucial reproductive indicator within poultry production. Previous studies have elucidated the involvement of the hypothalamic-pituitary-ovarian (HPO) and hypothalamic-pituitary-thyroid (HPT) axes in regulating poultry sexual maturity. Concurrently, there was evidence suggesting a potential co-regulatory relationship between these 2 axes. However, as of now, no comprehensive exploration of the key pathways and genes responsible for the crosstalk between the HPO and HPT axes in the regulation of AFE has been reported...

BACKGROUND: The aim of the study is to observe the anti-inflammatory and antioxidative stress effects of metformin on bleomycin (BLM)-induced pulmonary fibrosis in mice. METHODS: Mice with BLM-induced pulmonary fibrosis were treated with pirfenidone, metformin, pirfenidone plus metformin and the NADPH oxidase 4 (NOX4) inhibitor diphenyleneiodonium chloride (DPI). Pathological changes and hydroxyproline (HPO) levels were examined in the lung tissue of mice with pulmonary fibrosis...

The international Mitochondrial Disease Sequence Data Resource Consortium (MSeqDR) Quick-Mitome (QM) is a web-based platform enabling automated variant interpretation of whole-exome sequencing (WES) datasets for the genetic diagnosis of primary mitochondrial diseases (PMD). Designed specifically to address the unique dual genome nature of PMD etiologies, QM includes features for both nuclear and mitochondrial DNA (mtDNA) genome analysis. QM requires VCF variant lists, HPO ID clinical phenotypes, and pedigree files for multiple-sample VCF inputs...

Medical ontologies are mostly available in English. This presents a language barrier that is a limitation in research and automated processing of patient data. The manual translation of ontologies is complex and time-consuming. However, there are commercial translation tools that have shown promising results in the field of medical terminology translation. The aim of this study is to translate selected terms of the Human Phenotype Ontology (HPO) from English into German using commercial translators. Six medical experts evaluated the translation candidates in an iterative process...

To enhance phenotype recognition in clinical notes of genetic diseases, we developed two models-PhenoBCBERT and PhenoGPT-for expanding the vocabularies of Human Phenotype Ontology (HPO) terms. While HPO offers a standardized vocabulary for phenotypes, existing tools often fail to capture the full scope of phenotypes due to limitations from traditional heuristic or rule-based approaches. Our models leverage large language models to automate the detection of phenotype terms, including those not in the current HPO...

INTRODUCTION: The seeds of Plantago asiatica L., a folk herb, are rich in polysaccharides that possess antioxidant, antidiabetic, and anti-inflammatory properties. Polysaccharides with lower molecular weights generally exhibit higher biological activity, so a method to efficiently extract low-molecular-weight polysaccharides from P. asiatica L. seeds (PLPs) is needed. OBJECTIVES: The aim was to establish an efficient method for extracting polysaccharides from P...

Essential genes are those whose function is required for cell proliferation and/or organism survival. A gene's intolerance to loss-of-function can be allocated within a spectrum, as opposed to being considered a binary feature, since this function might be essential at different stages of development, genetic backgrounds or other contexts. Existing resources that collect and characterise the essentiality status of genes are based on either proliferation assessment in human cell lines, embryonic and postnatal viability evaluation in different model organisms, and gene metrics such as intolerance to variation scores derived from human population sequencing studies...

The tumour suppressor, Lethal (2) giant larvae (Lgl), is an evolutionarily conserved protein that was discovered in the vinegar fly, Drosophila, where its depletion results in tissue overgrowth and loss of cell polarity. Lgl links cell polarity and tissue growth through regulation of the Notch and the Hippo signalling pathways. Lgl regulates the Notch pathway by inhibiting V-ATPase activity via Vap33. How Lgl regulates the Hippo pathway was unclear. In this current study, we show that V-ATPase activity inhibits the Hippo pathway, whereas Vap33 acts to activate Hippo signalling...

OBJECTIVE: We aim to develop a solution for rare disease concept normalization based on fine-tuning LLaMA 2, an open-source large language model (LLM), using a domain-specific corpus. METHODS AND MATERIALS: We fine-tuned four LLaMA2 models, each comprising seven billion parameters, using sentences incorporating clinical concepts from the HPO and OMIM vocabularies. The fine-tuning was conducted on four NVIDIA A100 GPUs. RESULTS: All models proved resilient to newly prompt-engineered sentences not used in the fine-tuning, achieved nearly perfect accuracies when prompted with original training data, and exhibit some robustness to typos...

This in vitro study assessed the effectiveness of three cleaning protocols (air-water spray, 37% phosphoric acid, or Ivoclean) on lithium disilicate restorations' fatigue behavior after try-in paste application, compared to a clean condition. Lithium disilicate discs (IPS e.max CAD, Ivoclar) with Ø-= 12 mm and 1 mm thickness were prepared from prefabricated CAD-CAM blocks, polished, subjected to CAD-CAM milling topography simulation and crystallization. After, etching with 5% hydrofluoric acid and the application of try-in paste (Variolink try-in paste shade white; load of 2...

OBJECTIVES: To evaluate the use of Exome Sequencing (ES) for the detection of genome-wide Copy Number Variants (CNVs) and the frequency of SNVs-InDels in selected genes related to developmental disorders in a cohort of consecutive pregnancies undergoing invasive diagnostic procedures for minor or simple ultrasound findings with no indication of ES. METHODS: Women undergoing invasive diagnostic testing (chorionic villus sampling or amniocentesis) for QF-PCR and chromosomal microarray analysis (CMA) due to prenatal ultrasound findings without an indication for ES were selected over a five-month period (May-September 2021)...

Crop evapotranspiration is a key parameter influencing water-saving irrigation and water resources management of agriculture. However, current models for estimating maize evapotranspiration primarily rely on meteorological data and empirical coefficients, and the estimated evapotranspiration contains uncertainties. In this study, the evapotranspiration data of summer maize were collected from typical stations in Northern China (Yucheng Station), and a back-propagation neural network (BP) model for predicting maize evapotranspiration was constructed based on meteorological data, soil data, and crop data...

Autoimmunity in inborn errors of immunity (IEI) has a multifactorial pathogenesis and develops upon a genetic predisposition in conjunction with gene regulation, environmental modifiers, and infectious triggers. Based on incremental data availability due to up-front application of omics-technologies, a more granular and dynamic view of mechanisms and manifestations is warranted. Here we present a comprehensive novel concept of autoimmunity in IEI that considers multiple layers of interdependent elements and connects 101 causative genes or deletions according to the quality of the allelic variants with 47 molecular pathways and 22 immune effector mechanisms...