123 results match your criteria: "Center of Functional Genomics[Affiliation]"

Nitrogen leaching is a major pathway of nitrogen fertilizer loss. Although arbuscular mycorrhizal (AM) fungi are known to reduce nitrogen leaching by improving plant nitrogen uptake, the soil-based mechanisms remain unclear. A pot experiment was conducted using a randomized complete block design, with four nitrogen levels (0, 3.

View Article and Find Full Text PDF

Background And Hypothesis: Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are the leading cause of pediatric kidney failure (KF) and a significant contributor to KF in adults. Progression to KF varies widely. Early renal risk stratification is challenging, due to a lack of data on long-term kidney outcomes during adulthood.

View Article and Find Full Text PDF

Overview and expansion of CEP85L-associated lissencephaly.

Eur J Med Genet

August 2025

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany.

Defective neuronal migration causes lissencephaly (LIS), a neurodevelopmental disorder (NDD) with a smooth cerebral surface and abnormal cortical thickness. Variants in CEP85L are linked to posterior predominant LIS, but the phenotype and genotype are unclear. Three new unrelated cases of CEP85L-associated LIS are presented, including the first prenatal diagnosis and a mosaic variant.

View Article and Find Full Text PDF

Incontinentia pigmenti (IP) is a rare hereditary disorder affecting 1.2 in 100,000 live births, predominantly females. Genetic analysis of IP is complicated by a homologous pseudogene, making conventional short-read sequencing challenging.

View Article and Find Full Text PDF

Over the past 60 years, preventative public health screening programs have evolved since their inception and now include newborn screening (NBS) aimed at identifying infants after birth for a number of rare, congenital, inherited diseases. Most of the conditions detected through NBS are autosomal recessive disorders or exhibit X-linked inheritance, meaning that family members of individuals with these conditions have a higher risk for being either affected or obligate heterozygotes. For example, the X-linked adrenoleukodystrophy (X-ALD) in the screening panel identifies affected newborns and asymptomatic relatives through subsequent testing.

View Article and Find Full Text PDF

Nitric oxide (NO) is extensively involved in many physiological and pathological processes in biological systems and is of great significance in chemical and biomedical applications. Herein, a novel optical fiber NO sensor based on the carbon quantum dots (CDs)@UiO66 complex was prepared, in which CDs@UiO66 was encapsulated within cellulose acetate (CA) as a fluorescence probe to form the NO-sensitive film coated on the optical fiber end-face through a dip-coating method. The fluorescence properties and morphology of the CDs@UiO66 complex and its sensitive film were characterized using X-ray diffraction (XRD), scanning electron microscopy (SEM), transmission electron microscopy (TEM), Fourier transform infrared spectroscopy (FTIR), fluorescence spectroscopy, and contact angle tests.

View Article and Find Full Text PDF

Wastewater surveillance has proven to be a cost-effective, non-invasive method for monitoring the spread and evolution of SARS-CoV-2, yet its value during today's low-incidence phase is still being defined. Between August 2023 and July 2024, 42 composite wastewater samples were collected in Perugia, Italy and analyzed using RT-qPCR and whole-genome sequencing to identify circulating SARS-CoV-2 lineages. In parallel, clinical samples (respiratory tract samples) were collected and analyzed, allowing for direct comparisons to confirm the robustness of the wastewater findings.

View Article and Find Full Text PDF

During pregnancy, nutrient requirements increase while deficiencies can significantly affect pregnancy outcomes. Deficiencies may result from inadequate dietary intake, impaired absorption, or restrictive diets. This study aimed to retrospectively assess the nutritional status and dietary intakes in a cohort of mothers whose newborns were identified with vitamin B12 deficiency of maternal origin through Newborn Screening.

View Article and Find Full Text PDF

Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

Int J Neonatal Screen

April 2025

Center of Functional Genomics and Rare diseases, Department of Pediatrics, Buzzi Children's Hospital, 20154 Milan, Italy.

Background: Newborn screening (NBS) is a preventive healthcare program aiming at identifying the inborn errors of metabolism (IEMs) in asymptomatic infants to reduce the risk of severe complications. The aim of this study was to report the first years (2016-2020) of the expanded NBS program in the Lombardy region, Italy.

Methods: Dried blood spots were collected from newborns' heels at 48-72 h after birth.

View Article and Find Full Text PDF

Metachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency in the arylsulfatase A (ARSA) enzyme, leading to toxic accumulation of sulfatides, which progressively impair motor and cognitive function. MLD is a candidate for inclusion in newborn screening (NBS) programs, due to the narrow pre-symptomatic window for effective therapeutic intervention. We set up a prospective pilot NBS program for MLD in Tuscany, based on a two-step approach.

View Article and Find Full Text PDF

Reliable strategies to capture patients at risk of progression from precursor stages of multiple myeloma (MM) to overt disease are still missing. We assembled a comprehensive collection of MM genomic data comprising 1,030 patients (218 with precursor conditions) that we used to identify recurrent coding and non-coding candidate drivers as well as significant hotspots of structural variation. We used those drivers to define and validate a simple 'MM-like' score, which we could use to place patients' tumors on a gradual axis of progression toward active disease.

View Article and Find Full Text PDF

Unlabelled: Multisystem Inflammatory Syndrome in Children (MIS-C) is a serious condition associated with SARS-CoV-2 infection. The relationship between SARS-CoV-2 variants of concern (VOCs) and the occurrence and severity of MIS-C is unknown. We analyzed the dynamics of MIS-C in the Milan metropolitan area (Italy) during the COVID-19 pandemic, focusing on the epidemiologic trends and disease severity in relation to different VOCs in a single-center study.

View Article and Find Full Text PDF

Alpaca. A Simplified and Reproducible Python-Based Pipeline for Absolute Proteome Quantification Data Mining.

Proteomics

May 2025

Department of Microbial Proteomics, Institute of Microbiology, Center of Functional Genomics of Microbes, University of Greifswald, Greifswald, Germany.

The accurate construction of computational models in systems biology heavily relies on the availability of quantitative proteomics data, specifically, absolute protein abundances. However, the complex nature of proteomics data analysis necessitates specialised expertise, making the integration of this data into models challenging. Therefore, the development of software tools that ease the analysis of proteomics data and bridge between disciplines is crucial for advancing the field of systems biology.

View Article and Find Full Text PDF

The zona glomerulosa (ZG) synthesizes the mineralocorticoid aldosterone. The primary role of aldosterone is the maintenance of volume and electrolyte homeostasis. Aldosterone synthesis is primarily regulated via tightly controlled oscillations in intracellular calcium levels in response to stimulation.

View Article and Find Full Text PDF

Background: The metabolism of plasma amino acid (AA) in children with autism spectrum disorder (ASD) has been extensively investigated, yielding inconclusive results. This study aims to characterize the metabolic alterations in AA profiles among early-diagnosed children with ASD and compare the findings with those from non-ASD children.

Methods: We analyzed plasma AA profiles, measured by ion exchange chromatography, from 1242 ASD children (median age = 4 years; 81% male).

View Article and Find Full Text PDF

Corrigendum: Viable but nonculturable state in the zoonotic pathogen induced by low-grade fever temperature and antibiotic treatment.

Front Cell Infect Microbiol

January 2025

Key Laboratory of Preclinical Study for New Drugs of Gansu Province, School of Basic Medical Sciences, Lanzhou University, Lanzhou, China.

[This corrects the article DOI: 10.3389/fcimb.2024.

View Article and Find Full Text PDF

Improving the sensitivity of biosensor has always the major challenge to measure lower detection concentration of biological samples. In this paper, a novel optical fiber surface plasmon resonance (SPR) biosensor based on TiC MXene/GNRs synergistically highly enhanced sensitivity was proposed. The TiC MXene and GNRs were coated on the optical fiber sensing probe by the electrostatic layer-by-layer (ELBL) assembly method.

View Article and Find Full Text PDF

Background: Under standard therapies, the incidence of drug-induced liver injury (DILI) in patients with tuberculosis ranges from 2% to 28%. Numerous studies have identified the risk factors for antituberculosis DILI; however, none have been conducted in a multiethnic real-world setting. The primary outcome of the current study was to identify the risk factors that could be used as the best predictors of DILI in a multiethnic cohort.

View Article and Find Full Text PDF

Key Points: The Mayo clinic imaging classification and the predicting renal outcome in polycystic kidney disease score are used to assess the risk of progression to kidney failure in autosomal dominant polycystic kidney disease. Mayo imaging classification and predicting renal outcome in polycystic kidney disease show little concordance; combined use increased the ability to identify rapid progression especially among intermediate risk patients. Accurate risk prediction is key for determining indication for specific treatment.

View Article and Find Full Text PDF

The zoonotic pathogen is responsible for diverse human diseases, from mild to life-threatening, but it often eludes detection in culture-based assays. This study investigates the potential of to enter a viable but nonculturable (VBNC) state when exposed to human fever temperature or antibiotics, with this state confirmed by successful resuscitation. Viability was assessed using SYBR Green I/PI staining and propidium monoazide-quantitative polymerase chain reaction (PMA-qPCR), while culturability was determined through colony-forming unit (CFU) counting on blood agar plates.

View Article and Find Full Text PDF

Exploring Cuproptosis-Related Genes and Diagnostic Models in Renal Ischemia-Reperfusion Injury Using Bioinformatics, Machine Learning, and Experimental Validation.

J Inflamm Res

November 2024

Department of Urology, Institute of Urology, Gansu Province Clinical Research Center for Urinary System Disease, Lanzhou University Second Hospital, Lanzhou, Gansu, 730030, People's Republic of China.

Article Synopsis
  • Renal ischemia-reperfusion injury (RIRI) significantly contributes to acute kidney injury, particularly affecting kidney transplants, and this study investigates the role of cuproptosis-related genes in RIRI to improve diagnostic methods.
  • The research utilized bioinformatics to analyze data from 203 RIRI samples, identifying 18 cuproptosis-related differentially expressed genes (CRDEGs) and examining their connections with immune cells and biological pathways.
  • Experimental validation in mouse models and cell cultures confirmed the involvement of these genes, highlighting the potential of the copper chelator D-Penicillamine in offering protection against RIRI-induced kidney damage.
View Article and Find Full Text PDF