Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia.

The genetic factors contributing to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder, remain elusive for ~20%-35% of patients with complex and abnormal clinical phenotypes. Our study aimed to identify causative variants of PCD-associated pathogenic candidate genes using whole-exome sequencing (WES). All patients were diagnosed with PCD based on clinical phenotype or transmission electron microscopy images of cilia.

Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome.

Primary ciliary dyskinesia (PCD), a rare genetic disorder, is mostly caused by defects in more than 40 known cilia structure-related genes. However, in approximately 20-35% of patients, it is caused by unknown genetic factors, and the inherited pathogenic factors are difficult to confirm. Kartagener syndrome (KTS) is a subtype of PCD associated with situs inversus, presenting more complex genetic heterogeneity.

A deficient or an excess of dietary threonine level affects intestinal mucosal integrity and barrier function in broiler chickens.

The aim of this study was to investigate the effects of deficient or excess of dietary threonine (Thr) levels on intestinal integrity and barrier function of broilers. A total of 432 1-day-old commercial broilers (Arbor Acre) were assigned to four experiment groups consisting of six replicates of 18 birds. The treatments were designed as follows: 85%, 100%, 125% and 150% of NRC (Nutrient requirements of poultry (9th edn).

Pathogenic variants of PROC gene caused type I activity deficiency in a familial Chinese venous thrombosis.

Pathogenic mutation of protein C (PROC) gene results into the deficiency of PROC activity. This study aimed to identify the pathogenic genetic variants and to explore the functional consequence in Chinese familial venous thrombosis (VTE). Whole exome sequencing was performed to identify the pathogenic variants of anticoagulant factors.

iTRAQ-based proteomic analysis of human umbilical vein endothelial cells with platelet endothelial aggregation receptor-1 knockdown.

The disorders of hemostasis and coagulation were believed to be the main contributors to the pathogenesis of pulmonary thromboembolism (PTE), and platelets are the basic factors regulating hemostasis and coagulation and play important roles in the process of thrombosis. This study investigated the proteome of human umbilical vein endothelial cells (HUVECs) with platelet endothelial aggregation receptor-1 (PEAR1) knockdown using the isobaric tags for relative and absolute quantitation (iTRAQ) method and analyzed the role of differential abundance proteins (DAPs) in the regulation of platelets aggregation. Our results showed that the conditioned media-culturing HUVECs with PEAR1 knockdown partially suppressed the adenosine diphosphate (ADP)-induced platelet aggregation.

Diagnostic value of platelet-derived microparticles in pulmonary thromboembolism: A population-based study.

An early and accurate diagnosis of pulmonary thromboembolism (PTE) remains challenging. The present study aimed to evaluate the diagnostic value of platelet-derived microparticles in PTE based on a population study. A total of 102 patients with PTE, 102 healthy controls and 40 patients suspected with PTE were enrolled in this study.

Immunology repertoire study of pulmonary sarcoidosis T cells in CD4+, CD8+ PBMC and tissue.

Sarcoidosis is a systemic granulomatous disorder highly related with immune response. The diversity and stability of the immune system could be measured by hypervariable complementarity-determining region 3 (CDR3) segments of the T cell receptor (TCR). Here we used a combination of multiplex PCR and next-generation sequencing to conduct a good quality analysis of the T-cell receptor BV complementarity-determining region 3 (TCR BV CDR3) gene in peripheral blood mononuclear cells (PBMCs) from 7 sarcoidosis patients and lung sarcoidosis tissue from 6 patients.

PEAR1 gene polymorphism in a Chinese pedigree with pulmonary thromboembolism.

To explore the correlation between platelet endothelial aggregation receptor-1 (PEAR1) genetic polymorphism and pulmonary thromboembolism (PTE).Variant loci of the PEAR1 gene were screened in a PTE pedigree, followed by verification using Sanger sequencing. These polymorphic loci were validated in 101 PTE patients and 132 matched normal patients using MassARRAY single nucleotide polymorphism (SNP) genotyping methods.

[Life history characteristics of different genotype clones of Brachionus calyciflorus (Rotifera) population in Jinghu Lake].

By means of life table demographic approach, the life-table demographic parameters and the percentage of mictic females in the offspring of thirteen genetically different Brachionus calyciflorus clones were studied at 15 degrees C, 20 degrees C, 25 degrees C and 30 degrees C. The results showed that the responses of the generation time, average lifespan, life expectancy at hatching, intrinsic rate of population increase, net reproductive rate, and percentage of mictic females in the offspring of B. calyciflorus to increasing temperature differed with rotifer clones.