Single nucleotide polymorphisms of CFAP43 and TEX14 associated with idiopathic male infertility in a Vietnamese population.

Male infertility is a multifactorial disease due to spermatogenesis impairment, with etiology remaining unknown for roughly one-third of infertile cases. Several studies have demonstrated that genetic variants are male infertility risk factors. CFAP43 and TEX14 are involved in the spermatogenesis process.

HLA alleles associated with susceptibility and severity of the COVID-19 in Vietnamese.

The diversity of clinical manifestations in COVID-19 has been observed not only among individuals but also among various populations in globally. HLA molecules play a central role in physiology, protective immunity, and deleterious, disease-related autoimmune reactivity or overreaction. This study exploited the association between HLA frequencies and SARS-CoV-2 susceptibility and disease severity among the Vietnamese cohort (159 patients and 52 controls).

Investigation of ortho-positronium annihilation for porous materials with different geometries and topologies.

In this work, we present the results of the ortho-positronium (o-Ps) annihilation lifetimes and nitrogen adsorption measurements for different porous materials and an approach for describing the annihilation of o-Ps in a pore, which results in a surface-volume formula (SVF) for calculating the pore-related o-Ps lifetime. This proposed formula gives the relationship between the o-Ps annihilation rate and the effective pore radius, bulk composition, and pore structure, including pore geometry and topology. The pore-related o-Ps lifetimes of different materials calculated by the SVF are consistent with experimental results for both micro- and mesopores (and macropores) with different geometries and topologies.

-Amylase and -glucosidase inhibitors from the aerial parts of (Lam.) K. Larsen.

One new compound, 4,7-dihydroxy-2-hydroxymethyl-5,6-dimethoxyanthraquinone (), along with eight known compounds (-) were isolated from the methanol extracts of the aerial parts of (Lam.) K. Larsen.

Assessing polygenic risk score models for applications in populations with under-represented genomics data: an example of Vietnam.

Most polygenic risk score (PRS)models have been based on data from populations of European origins (accounting for the majority of the large genomics datasets, e.g. >78% in the UK Biobank and >85% in the GTEx project).

A comprehensive evaluation of polygenic score and genotype imputation performances of human SNP arrays in diverse populations.

Regardless of the overwhelming use of next-generation sequencing technologies, microarray-based genotyping combined with the imputation of untyped variants remains a cost-effective means to interrogate genetic variations across the human genome. This technology is widely used in genome-wide association studies (GWAS) at bio-bank scales, and more recently, in polygenic score (PGS) analysis to predict and stratify disease risk. Over the last decade, human genotyping arrays have undergone a tremendous growth in both number and content making a comprehensive evaluation of their performances became more important.

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel variants.

Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature aging, mainly arising from biallelic (CS-A) or (CS-B) variants. In this study we describe siblings suffering from classical Cockayne syndrome but without photosensitivity, which delayed a clinical diagnosis for 16 years. By whole-exome sequencing we identified the two novel compound heterozygous variants c.

Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome.

We describe a case of Cockayne syndrome without photosensitivity in a Vietnamese family. This lack of photosensitivity prevented the establishment of a confirmed medical clinical diagnosis for 16 years. Whole-exome sequencing (WES) identified a novel missense variant combined with a known nonsense variant in the ERCC6 gene, NM_000124.

A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p.

Effect of Soluble Adenylyl Cyclase (ADCY10) Inhibitors on the LH-Stimulated cAMP Synthesis in Mltc-1 Leydig Cell Line.

In contrast to all transmembrane adenylyl cyclases except ADCY9, the cytosolic soluble adenylyl cyclase (ADCY10) is insensitive to forskolin stimulation and is uniquely modulated by calcium and bicarbonate ions. In the present paper, we focus on ADCY10 localization and a kinetic analysis of intracellular cAMP accumulation in response to human LH in the absence or presence of four different ADCY10 inhibitors (KH7, LRE1, 2-CE and 4-CE) in MTLC-1 cells. ADCY10 was immuno-detected in the cytoplasm of MLTC-1 cells and all four inhibitors were found to inhibit LH-stimulated cAMP accumulation and progesterone level in MLTC-1 and testosterone level primary Leydig cells.

Stimulation of dendritic cell functional maturation by capsid protein from chikungunya virus.

Objectives: Chikungunya virus (ChikV) infection is characterized by persistent infection in joints and lymphoid organs. The ChikV Capsid protein plays an important role in regulating virus replication. In this study, we hypothesized that capsid protein may stimulate dendritic cell (DC) activation and maturation and trigger an inflammatory response in mice.

Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease.

Background: Early-onset Parkinson's disease (EOPD) refers to that of patients who have been diagnosed or had onset of motor symptoms before age 50, accounting for 4% of Parkinson's disease patients. The PRKN and PINK1 genes, both involved in a metabolic pathway, are associated with EOPD.

Methods: To identify variants associated with EOPD, coding region of PARKIN and PINK1 genes in 112 patients and 112 healthy individuals were sequenced.

Excessive radon-based radiation in indoor air caused by soil building materials in traditional homes on Đồng Văn karst plateau, northern Vietnam.

Radon-based radiation from natural soil building materials is an important factor likely influencing residents' health as a contributing source of natural radiation. This survey aims to quantify the nuclide-specific α-radiation of isotopes Rn and Rn in common types of houses in a region of northern Vietnam, Đồng Văn karst plateau, to preliminarily (i) evaluate the total annual effective dose rates and (ii) assess the relative risk of cancer induction from indoor α-radiation for inhabitants. The average Rn concentrations in all house types were lower than 100 Bq m, but Rn abundances were far higher than Rn, even up to >1000 Bq m in air close to a wall of unfired-soil bricks.

Extensive Ethnolinguistic Diversity in Vietnam Reflects Multiple Sources of Genetic Diversity.

Vietnam features extensive ethnolinguistic diversity and occupies a key position in Mainland Southeast Asia. Yet, the genetic diversity of Vietnam remains relatively unexplored, especially with genome-wide data, because previous studies have focused mainly on the majority Kinh group. Here, we analyze newly generated genome-wide single-nucleotide polymorphism data for the Kinh and 21 additional ethnic groups in Vietnam, encompassing all five major language families in Mainland Southeast Asia.

Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing.

Background And Methods: Syndactyly is a congenital disorder caused by an irregularity in limb formation during the embryonic development. Many studies have demonstrated the critical effect of genetic factor in controlling the outcome of non-syndromic syndactyly. However the signaling pathway causing this disease has not been fully understood.

The paternal and maternal genetic history of Vietnamese populations.

Vietnam exhibits great cultural and linguistic diversity, yet the genetic history of Vietnamese populations remains poorly understood. Previous studies focused mostly on the majority Kinh group, and thus the genetic diversity of the many other groups has not yet been investigated. Here we analyze complete mtDNA genome sequences and ~2.

Polymorphisms of and Genes Associated with Gout Risk in Vietnamese Population.

Gout is a common form of inflammatory arthritis caused by the crystallization of uric acid. Previous studies have demonstrated that the genetic predisposition of gout varies in different ethnic populations. However the association study of genetic variants with gout remains unknown in the Vietnamese population.

Complete human mtDNA genome sequences from Vietnam and the phylogeography of Mainland Southeast Asia.

Vietnam is an important crossroads within Mainland Southeast Asia (MSEA) and a gateway to Island Southeast Asia, and as such exhibits high levels of ethnolinguistic diversity. However, comparatively few studies have been undertaken of the genetic diversity of Vietnamese populations. In order to gain comprehensive insights into MSEA mtDNA phylogeography, we sequenced 609 complete mtDNA genomes from individuals belonging to five language families (Austroasiatic, Tai-Kadai, Hmong-Mien, Sino-Tibetan and Austronesian) and analyzed them in comparison with sequences from other MSEA countries and Taiwan.

Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure.

2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) or dioxin, is commonly considered the most toxic man-made substance. Dioxin exposure impacts human health and diseases, birth defects and teratogenesis were frequently observed in children of persons who have been exposed to dioxin. However, the impact of dioxin on human mutation rate in trios has not yet been elucidated at the whole genome level.

Xanthine oxidase inhibitors from Archidendron clypearia (Jack.) I.C. Nielsen: Results from systematic screening of Vietnamese medicinal plants.

Objective: To screen Vietnamese medicinal plants for xanthine oxidase (XO) inhibitory activity and to isolate XO inhibitor(s) from the most active plant.

Methods: The plants materials were extracted by methanol. The active plant materials were fractionated using different organic solvents, including n-hexane, ethyl acetate, and n-butanol.

Regulation of dendritic cell function by insulin/IGF-1/PI3K/Akt signaling through klotho expression.

Insulin or insulin-like growth factor 1 (IGF-1) promotes the activation of phosphoinositide 3 kinase (PI3K)/Akt signaling in immune cells including dendritic cells (DCs), the most potent professional antigen-presenting cells for naive T cells. Klotho, an anti-aging protein, participates in the regulation of the PI3K/Akt signaling, thus the Ca-dependent migration is reduced in klotho-deficient DCs. The present study explored the effects of insulin/IGF-1 on DC function through klotho expression.