Case Report: Allelic and biallelic variants in cause factor XI deficiency.

Factor XI deficiency is a rare inherited coagulation disorder with an estimated prevalence of affecting 1 in 1 million. It is characterized by mild and variable bleeding phenotypes, including bruises, nosebleeds, hematuria, and postpartum hemorrhage. It can be caused by either allelic or biallelic variants in ().

Widely targeted metabolomics reveal the distribution of primary and secondary metabolites in pomegranate fruit.

The pomegranate fruit is valued for its nutritional and medicinal properties, and the composition and content of primary and secondary metabolites are the main factors impacting its nutritional and medicinal properties. However, a deep understanding of metabolites in different parts of fruit is still lacking. Here, the peel, aril, and seed of mature pomegranate fruits were analyzed separately to compare metabolic component differences using UPLC/MS-MS.

Comparative Proteomic Analysis of Floral Buds before and after Opening in Walnut ( L.).

The walnut ( L.) is a typical and an economically important tree species for nut production with heterodichogamy. The absence of female and male flowering periods seriously affects both the pollination and fruit setting rates of walnuts, thereby affecting the yield and quality.

The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.

Thalassemia is one of the most widely distributed monogenic disorders in the world and affects the largest number of people. It can manifest a wide spectrum of phenotypes from asymptomatic to fatal, which is associated with the degree of imbalance between α- and β-globin chains. Therefore, individuals with different genotypes could present with a similar phenotype.

Evaluating ClinGen variant curation expert panels' application of PVS1 code.

Background: The 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines articulates that the effects of certain types of variants on gene function can often be seen as a complete absence of the gene product by leading to a lack of transcription or nonsense-mediated decay(NMD). However, detailed information considering different types of loss of function(LOF) variants, refined steps assimilating details concerning location of variant, changes in strength levels, NMD boundary, or any additional information pointing to a true null effect, were all left to expert judgement. As part of its Clinical Genome Resource (ClinGen) initiative, Variant Curation Expert Panels (VCEPs) are designated to make gene/disease-centric specifications in accordance with the ACMG/AMP guidelines, including a more detailed definition of what constitutes an appropriate LOF evidence.

Global and regional trends in the incidence and mortality burden of endometrial cancer, 1990-2019: Updated results from the Global Burden of Disease Study, 2019.

Background: The disease burdens for endometrial cancer (EC) vary across different countries and geographical regions and change every year. Herein, we reported the updated results of the Global Burden of Disease Study 2019 on EC with respect to age-standardized incidence and mortality from 1990 to 2019.

Methods: The annual percentage change (APC) of incidence and mortality was evaluated using joinpoint regression analysis to examine the temporal trends during the same timeframe in terms of the global landscape, different sociodemographic indices (SDI), and geographic regions.

Trends in incidence and mortality for ovarian cancer in China from 1990 to 2019 and its forecasted levels in 30 years.

Background: The specific long-term trend in ovarian cancer (OC) rates in China has been rarely investigated. We aimed to estimate the temporal trends in incidence and mortality rates from 1990 to 2019 in OC and predict the next 30-year levels. Data on the incidence, mortality rates, and the number of new cases and deaths cases due to OC in the China cohort from 1990 to 2019 were retrieved from the Global Burden of Disease Study 2019.

Strong enhancement of Goos-Hänchen shift through the resonant optical tunneling effect.

The resonant optical tunneling effect (ROTE) originates from the frustrated total reflection effect because unique transmission characteristics are used to study high-sensitivity sensors. In this study, we theoretically demonstrated that choosing a suitable transmission gap made it possible for the ROTE structure based on hexagonal boron nitride and graphene to obtain a large Goos-Hänchen shift as high as tens of thousands of times the incident wavelength at a specific incident angle. The amplitude of the Goos-Hänchen shift was found to be sensitive to the central layer thickness but was also modulated by the tunneling gap on both sides.

Communication wavelength investigation of bound states in the continuum of one-dimensional two-material periodic ring optical waveguide network.

In this study, a one-dimensional (1D) two-material period ring optical waveguide network (TMPROWN) was designed, and its optical properties were investigated. The key characteristics observed in the 1D TMPROWN include the following: (1) Bound states in continuum (BICs) can be generated in the optical waveguide network. (2) In contrast to the BICs previously reported in optical structures, the range of the BICs generated by the 1D TMPROWN is not only larger, but also continuous.

Disrupting reconsolidation by PKA inhibitor in BLA reduces heroin-seeking behavior.

Drug abuse is considered a maladaptive pathology of emotional memory and is associated with craving and relapse induced by drug-associated stimuli or drugs. Reconsolidation is an independent memory process with a strict time window followed by the reactivation of drug-associated stimulus depending on the basolateral amygdala (BLA). Pharmacology or behavior treatment that disrupts the reconsolidation can effectively attenuate drug-seeking in addicts.

The Role of Variants in Neurodevelopmental Diseases: Genotype-Phenotype Association.

To prove microtubule associated serine/threonine kinase 3 () gene is associated with neurodevelopmental diseases (NDD) and the genotype-phenotype correlation. Trio exome sequencing (trio ES) was performed on four NDD trios. Bioinformatic analysis was conducted based on large-scale genome sequencing data and human brain transcriptomic data.

A Bifunctional Silicon Dielectric Metasurface Based on Quasi-Bound States in the Continuum.

Quasi-bound states in the continuum provide an effective and observable way to improve metasurface performance, usually with an ultra-high-quality factor. Dielectric metasurfaces dependent on Mie resonances have the characteristic of significantly low loss, and the polarization can be affected by the parameter tuning of the structure. Based on the theory of quasi-bound states in the continuum, we propose and simulate a bifunctional resonant metasurface, whose periodic unit structure consists of four antiparallel and symmetrical amorphous silicon columns embedded in a poly(methyl methacrylate) layer.

Chromosomal abnormality: Prevalence, prenatal diagnosis and associated anomalies based on a provincial-wide birth defects monitoring system.

Aim: To investigate the epidemiology of chromosomal abnormalities (CA) in fetuses of all pregnancies based on a provincial-wide birth defects-monitoring system, which could provide scientific basis for making relatively policy and research.

Methods: Chromosomal abnormalities cases were collected from all hospitals in Hunan Province, China, between 2016 and 2019. The prevalence of CAs was calculated to examine associations among infant sex, maternal age and region.

Identification of the Gene Family in Pomegranate ( L.) and Functional Analysis of .

Sucrose, an important sugar, is transported from source to sink tissues through the phloem, and plays important role in the development of important traits in plants. However, the gene family is still not well characterized in pomegranate. In this study, we first identified the pomegranate sucrose transporter ( gene family from the whole genome.

The safety and effectiveness of genetically corrected iPSCs derived from β-thalassaemia patients in nonmyeloablative β-thalassaemic mice.

Background: β-Thalassaemia is a clinically common cause of hereditary haemolytic anaemia stemming from mutations in important functional regions of the β-globin gene. The rapid development of gene editing technology and induced pluripotent stem cell (iPSC)-derived haematopoietic stem cell (HSC) transplantation has provided new methods for curing this disease.

Methods: Genetically corrected β-thalassaemia (homozygous 41/42 deletion) iPSCs that were previously established in our laboratory were induced to differentiate into HSCs, which were transplanted into a mouse model of IVS2-654 β-thalassaemia (B6;129P2-Hbb/J mice) after administration of an appropriate nonmyeloablative conditioning regimen.

Prenatal diagnosis of birth defects and termination of pregnancy in Hunan Province, China.

Objective: The aim of this study was to analyse the characteristics of the prenatal diagnosis (PD) of birth defects (BDs) and termination of pregnancy (TOP) for fetal anomalies and to suggest perinatal management.

Methods: BD surveillance data were collected from 52 registered hospitals in Hunan between 2015 and 2018. The PD and TOP rates of BDs were calculated to examine the associations between infant sex, maternal age, and region.

Small RNA and mRNA Sequencing Reveal the Roles of microRNAs Involved in Pomegranate Female Sterility.

Female sterility is a key factor restricting plant reproduction. Our previous studies have revealed that pomegranate female sterility mainly arose from the abnormality of ovule development. MicroRNAs (miRNAs) play important roles in ovule development.

Noninvasive prenatal diagnosis of β-thalassemia by relative haplotype dosage without analyzing proband.

Background: β-thalassemia is one of the most common monogenic diseases in the world. Southeast China is a highly infected area affected by four β-thalassemia mutation types (HBB:c.-78A>G, HBB:c.

The pomegranate (Punica granatum L.) draft genome dissects genetic divergence between soft- and hard-seeded cultivars.

Complete and highly accurate reference genomes and gene annotations are indispensable for basic biological research and trait improvement of woody tree species. In this study, we integrated single-molecule sequencing and high-throughput chromosome conformation capture techniques to produce a high-quality and long-range contiguity chromosome-scale genome assembly of the soft-seeded pomegranate cultivar 'Tunisia'. The genome covers 320.

Molecular investigation in Chinese patients with primary carnitine deficiency.

Background: Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation caused by mutations in the SLC22A5 that lead to low serum carnitine levels and decreased intracellular carnitine accumulation. Characteristic clinical findings are hypoketotic hypoglycemia and skeletal and cardiac myopathy.

Objective: To genetically diagnose 24 unrelated Chinese patients with PCD, including 18 infants and six adults.

Characterization of a NAC transcription factor involved in the regulation of pomegranate seed hardness (Punica granatum L.).

The pomegranate, Punica granatum L., which has been cultivated since antiquity, is known to be a superfruit, possessing an array of functional anti-oxidants and various other health benefits. The hardness of pomegranate seeds is an important indicator of fruit quality, which in turn affects economic value and market demand.

Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly.

Primary autosomal recessive microcephaly (MCPH) is a rare hereditary disease characterized by congenitally small with brain circumference of the head below 3 standard deviations (SD). By far, 18 MCPH genes have been reported to be associated with the disease. SASS6 gene functioned in assembly of centrioles that the majority of MCPH genes present at the centrosome.

Complementary iTRAQ-based proteomic and RNA sequencing-based transcriptomic analyses reveal a complex network regulating pomegranate (Punica granatum L.) fruit peel colour.

Peel colour is an important factor affecting the marketability of pomegranate fruits. Therefore, elucidating the genetic mechanism of fruit peel colour development may be useful for breeding pomegranate cultivars with enhanced fruit peel colours. In this study, we combined an iTRAQ-based proteome-level analysis with an RNA sequencing-based transcriptome-level analysis to detect the proteins and genes related to fruit peel colour development in pomegranate.