UPD

Heterodimers of metal nanocrystals (NCs) with tailored elemental distribution have emerged as promising candidates in the field of electrocatalysis, owing to their unique structures featuring heterogeneous interfaces with distinct components. Despite this, the rational synthesis of heterodimer NCs with similar elemental composition remains a formidable challenge, and their impact on electrocatalysis has remained largely elusive. In this study, Pd@Bi-PdBi heterodimer NCs are synthesized through an underpotential deposition (UPD)-directed growth pathway...

Monounsaturated fatty acids (MUFAs) play a pivotal role in maintaining endoplasmic reticulum (ER) homeostasis, an emerging hallmark of cancer. However, the role of polyunsaturated fatty acid (PUFAs) desaturation in persistent ER stress driven by oncogenic abnormalities remains elusive. Fatty Acid Desaturase 1 (FADS1) is a rate-limiting enzyme controlling the bioproduction of long-chain PUFAs. Our previous research has demonstrated the significant role of FADS1 in cancer survival, especially in kidney cancers...

BACKGROUND: The metabolically demanding nature of immune response requires nutrients to be preferentially directed towards the immune system at the expense of peripheral tissues. We study the mechanisms by which this metabolic reprograming occurs using the parasitoid infection of Drosophila larvae. To overcome such an immune challenge hemocytes differentiate into lamellocytes, which encapsulate and melanize the parasitoid egg. Hemocytes acquire the energy for this process by expressing JAK/STAT ligands upd2 and upd3, which activates JAK/STAT signaling in muscles and redirects carbohydrates away from muscles in favor of immune cells...

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A (SPG5A). METHODS: A pedigree suspected for Hereditary spastic paraplegia (HSP) at Henan Children's Hospital on August 15 2022 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples were collected from members of the pedigree. Following extraction of genomic DNA, trio-WGS was carried out, and candidate variant was verified by Sanger sequencing...

The understanding of the interfacial properties in perovskite devices under irradiation is crucial for their engineering. In this study we show how the electronic structure of the interface between CsPbBr3 perovskite nanocrystals (PNCs) and Au is affected by irradiation of X-rays, near-infrared (NIR), and ultraviolet (UV) light. The effects of X-ray and light exposure could be differentiated by employing low-dose X-ray photoelectron spectroscopy (XPS). Apart from the common degradation product of metallic lead (Pb0 ), a new intermediate component (Pbint ) was identified in the Pb 4f XPS spectra after exposure to high intensity X-rays or UV light...

BACKGROUND: Copy number variation sequencing (CNV-seq) is crucial in prenatal diagnosis, but its limitations in detecting polyploidy, maternal cell contamination (MCC), and uniparental disomy (UPD) restrict its application in the analysis of products of conception (POCs). This study aimed to investigate an optimal genetic testing strategy for POCs in the era of CNV-seq. METHODS: CNV-seq and quantitative fluorescent polymerase chain reaction (QF-PCR) were performed in all 4,211 spontaneous miscarriage cases...

Given the poor outcome of refractory and relapsing T-ALL, identifying prognostic markers is still challenging. Using SNP-array analysis, we provide a comprehensive analysis of genomic imbalances in a cohort of 317 newly-diagnosed T-ALL patients including 135 children and 182 adults with respect to clinical and biological features and outcomes. SNP-array results identified at least one somatic genomic imbalance in virtually all T-ALL patients (~96%). Del(9)(p21) (~70%) and UPD(9)p21)/CDKN2A/B (~28%) were the most frequent genomic imbalances...

BACKGROUND: Silver-Russel syndrome (SRS) is a congenital disorder which is mainly characterized by intrauterine and postnatal growth retardation, relative macrocephaly, and characteristic (facial) dysmorphisms. The majority of patients shows a hypomethylation of the imprinting center region 1 (IC1) in 11p15 and maternal uniparental disomy of chromosome 7 (upd(7)mat), but in addition a broad spectrum of copy number variations (CNVs) and monogenetic variants (SNVs) has been reported in this cohort...

Ultraviolet photodetectors (UPDs) based on low-dimensional halide perovskites have undergone rapid development. Here, regulation of the electronic configuration of low-dimensional hybrid perovskites are reported via organic cations for self-powered UPDs. For the first time, it is determine that the rational design of organic cation phenyl alkylammonium can effectively prevent phonon scattering thus increasing charge carrier extraction in low dimensional lead chlorine perovskite thin-films. As a result, the exciton-binding energy can be reduced to 62...

To maintain the integrity of the adult gut, the proliferation and differentiation of stem cells must be strictly controlled. Several signaling pathways control the proliferation and differentiation of Drosophila intestinal epithelial cells. Although the modulatory effects of insulin pathway components on cell proliferation have been characterized, their specific role in which cell type and how these components interact with other regulatory signaling pathways remain largely unclear. In this study, we found that InR/Pi3K has major functions in enteroblasts (EBs) that were not previously described...

Electrochemical scanning tunneling microscopy (EC-STM) and electrochemical quartz crystal microbalance (E-QCM) techniques in combination with DFT calculations have been applied to reveal the static phase and the phase transition of copper underpotential deposition (UPD) on a gold electrode surface. EC-STM demonstrated, for the first time, the direct visualization of the disintegration of (√3 × √3)R30° copper UPD adlayer with coadsorbed SO4 2- while changing sample potential ( E S ) toward the redox Pa2/Pc2 peaks, which are associated with the phase transition between the Cu UPD (√3 × √3)R30° phase II and disordered randomly adsorbed phase III...

Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and/or autism spectrum disorder (ASD), which affect around 3-4% of the world's population. Modern platforms for CMA, also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions in the genome, such as long contiguous stretches of homozygosity (LCSH). These regions result from complete or segmental chromosomal homozygosis and may be indicative of uniparental disomy (UPD), inbreeding, population characteristics, as well as replicative DNA repair events...

Use of single-atom catalysts (SACs) has become a popular strategy for tuning activity and selectivity towards specific pathways. However, conventional SAC synthesis methods require high temperatures and pressures, complicated procedures, and expensive equipment. Recently, underpotential deposition (UPD) has been investigated as a promising alternative, yielding high-loading SAC electrodes under ambient conditions and within minutes. Yet only few studies have employed UPD to synthesize SACs, and all have been limited to UPD of Cu...

Electrocatalytic reactions are sensitive to the catalyst surface structure. Therefore, finding methods to determine active surface sites with different geometry is essential to address the structure-electrocatalytic performance relationships. In this work, we propose a simple methodology to tune and quantify the surface structure on copper catalysts. We tailor the distribution and ratio of facets on copper by electrochemically oxidizing and reducing the surface in chloride-rich aqueous solutions. We then address the formation of new facets with voltammetric lead (Pb) underpotential deposition (UPD)...

BACKGROUND: Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal diagnosis through Affymetrix CytoScan 750 K array analysis. We evaluated both chromosome G-banding karyotyping data and CMA results from 2007 cases subjected to amniocentesis. RESULTS: The detection rate of regions of homozygosity (ROH) ≥ 10 Mb was 1...

Underpotential deposition (UPD) is an intriguing means for tailoring the interfacial electronic structure of an adsorbate at a substrate. Here we investigate the impact of UPD on thermoelectricity occurring in molecular tunnel junctions based on alkyl self-assembled monolayers (SAMs). We observed noticeable enhancements in the Seebeck coefficient of alkanoic acid and alkanethiol monolayers, by up to 2- and 4-fold, respectively, upon replacement of a conventional Au electrode with an analogous bimetallic electrode, Cu UPD on Au...

Animals have evolved a multitude of signaling pathways that enable them to orchestrate diverse physiological processes to tightly regulate systemic homeostasis. This signaling is mediated by various families of peptide hormones and cytokines that are conserved across the animal kingdom. In this review, we primarily focus on the unpaired (Upd) family of proteins in Drosophila which are evolutionarily related to mammalian leptin and the cytokine interleukin 6. We summarize expression patterns of Upd in Drosophila and discuss the parallels in structure, signaling pathway, and functions between Upd and their mammalian counterparts...

The genotype-phenotype relationship in PWS patients is important for a better understanding of the clinical phenotype and clinical characteristics of different genotypes of PWS in children. We aimed to explore the influence of specific gene changes on the clinical symptoms of PWS and the value of early screening and early intervention of the condition. All data in this study were extracted from the database of the XiaoPang Weili Rare Disease Care Center. The collected information included basic demographics, maternal pregnancy information, endocrine abnormalities, growth and development abnormalities, and other clinical phenotypes...

OBJECTIVE: We present a prenatal diagnosis strategy of using Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) for the detection of maternal uniparental disomy 15/trisomy 15 (UPD(15) mat/T15) mosaicism. CASE REPORT: A 43-year-old woman underwent amniocentesis at 19 weeks of gestation due to a high risk of trisomy 15 (T15) as indicated by non-invasive prenatal testing (NIPT). Cytogenetic analysis revealed a karyotype of 46, XX of cultured amniocytes...

BACKGROUND: A fetus with increased copy number of chromosome 20 was identified by NIPT. Here we utilize several genetic tests and analyses to illuminate the etiology of such aneuploidy. METHODS: Amniotic fluid cells were extracted from pregnant woman and sent for karyotype and chromosomal microarray analysis (CMA). Trio pedigree analysis was conducted with Chromosome Analysis Suite and uniparental disomy (UPD)-tool software. RESULTS: CMA identified consistent results, which were 2 regions of homozygosity: arr[GRCh37]20p12...