Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.

Background: Newborn screening (NBS) aims to detect congenital anomalies, and next-generation sequencing (NGS) has shown promise in this aspect. However, the NBS strategy for monogenic inherited diseases in China remains insufficient.

Methods: We developed a NeoEXOME panel comprising 601 genes that are relevant to the Chinese population found through extensive research on available databases.

Croargoids A-G, Eudesmane Sesquiterpenes from the Bark of .

Seven new sesquiterpenes, named croargoid A-G (-), were isolated from the bark of . Compounds - were the first examples of eudesmane sesquiterpene lactones containing C-OH group. Compound was a highly degraded eudesmane sesquiterpene possessing a rare eleven-carbon skeleton.

Aspidopterys obcordata vine inulin fructan affects urolithiasis by modifying calcium oxalate crystallization.

Aspidopterys obcordata vine is a Chinese Dai ethnic herb used to treat urolithiasis. However, the material basis and underlying mechanisms remain undefined. In this study, a 2.

Structurally diverse limonoids and bio-active evaluation from Trichilia connaroides.

Four new limonoids, named as trichiconlide G (1), 2-hydroxyltrijugin F (2), 23-oxo-21-hydroxyltrijugin F (3), 21-oxo-23-hydroxyltrijugin F (4), along with sixteen known analogues (5-20) were isolated from the leaves and twigs of Trichilia connaroides. Their structures and absolute configurations were determined by spectroscopic analyses, X-ray diffraction analysis, and TD-DFT-ECD calculations. Trichiconlide G (1) is one rare naturally occurring 1,2-seco phragmalin-type limonoid bearing a C-7/28 δ-lactone ring.

Structurally diverse steroids with nitric oxide inhibitory activities from Aglaia lawii leaves.

Eleven previously uncharacterized steroids, along with three analogs were isolated from Aglaia lawii leaves. Their structures were definitely characterized by the methods of NMR, MS, IR, ECD and X-ray crystallography study. Among these unreported compounds, 3-epi-dyscusin C, 3-epi-lansisterone E and (Z)-2α-hydroxyaglawone were C-21 pregnane steroids incorporating a highly oxygenated ring A, while others were Δ-3β-hydroxy-7-ketosteroids bearing different ring D and C-17 aliphatic chains.

Four new steroids from the leaves and twigs of Dysoxylum pallens and their cytotoxic activities.

Four previously undescribed steroids, identified as (3S,7S,8S,9S,10R,13S,14S,16S,17R,20S)-7α-methoxy-ergosta-5,24(28)-dien-3β,16β,20-triol (1), ergosta-5,24(28)-dien-3β,7α,16β-triol (2), ergosta-5,25-dien-3β,7α,16β,20-tetrol (3) and 7α,16β,24α-trihydroxy-varninasterol (4), as well as five known analogues (5-9), were isolated from the leaves and twigs of Dysoxylum pallens Hiern (Meliaceae). Their structures were elucidated based on extensive spectroscopic analysis such as HR-ESI-MS, 1D and 2D NMR, UV, and IR. The absolute configuration of compound 1 was determined by X-ray diffraction analysis.

Mexicanolide-type limonoids from the twigs and leaves of Cipadessa baccifera.

Twelve previously undescribed mexicanolide-type limonoids, including two pairs of isomers, together with seven known analogues were isolated from the twigs and leaves of Cipadessa baccifera. Their structures were determined by extensive spectroscopic methods and electronic circular dichroism (ECD) calculations. Structural variations mainly occurred at the attachment of C-3 and the carbon residues linked to C-17.

Aspidoptoids A-D: Four New Diterpenoids from Vine.

Four new diterpenoids, named aspidoptoids A-D (-), together with two known analogues (-) were isolated from vine. Aspidoptoids A-B (-) are the first examples of phenylethylene-bearing 20-nor-diterpenoids of which aspidoptoid B () possesses a rare 3,10-oxybridge. Their structures and absolute configuration were determined by extensive spectroscopic analyses (IR, HRESIMS, 1D and 2D NMR) and electronic circular dichroism (ECD) calculation.

Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review.

Background: Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic information. This report also provides more knowledge about trisomy 8 mosaicism and the prenatal diagnostic for clinicians.

Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report.

Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.

Bacillus Calmette-Guérin-inoculation at different time points influences the outcome of C57BL/6 mice infected with Plasmodium chabaudi chabaudi AS.

Bacillus Calmette-Guérin (BCG) is an attenuated Mycobacterium tuberculosis vaccine. We performed a series of co-infection experiments with BCG-Plasmodium chabaudi chabaudi Landau, 1965 AS using C57BL/6 mice to analyse whether BCG can affect the development of protective immunity to infection with Plasmodium spp. and the mechanism of this protection.

Serum miR-26a as a diagnostic and prognostic biomarker in cholangiocarcinoma.

In order to determine the diagnostic and prognostic value of miR-26a in Cholangiocarcinoma (CCA), we compared miR-26a levels in serum from 66 CCA patients and 66 healthy controls, which was followed by serum analysis between the pre-operative serum and post-operative serum of these CCA patients. We found the concentration levels of miR-26a in serum of CCA patients were significantly higher than that from healthy controls (P < 0.01).

A very rare case of trisomy 4q32.3-4q35.2 and trisomy 21q11.2-21q22.11 in a patient with recombinant chromosomes 4 and 21.

We report the case of a patient with a clinical phenotype consistent with Down Syndrome (DS) who has a novel karyotypic abnormality. Karyotypic analyses were performed to investigate the cause of two spontaneous abortions. A balanced translocation between chromosomes 4 and 21 was identified, along with an additional abnormal chromosome 21.

Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China.

Objective: Hemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. A wide range of mutations, showing extensive molecular heterogeneity, have been described in hemophilia B patients.

SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus.

The collagen, type IX, alpha 1 (COL9A1) gene was previously identified as a candidate gene for idiopathic congenital talipes equinovarus (ICTEV), a congenital lower limb deformity in humans. In the present study, increased expression levels of COL9A1 were identified in the abductor hallucis muscle of ICTEV patients compared with those in control samples. The COL9A1 gene is regulated by SRY (sex‑determining region Y)‑box 9 (SOX9).

[Mechanism of GLI3 gene transcription regulation in idiopathic congenital talipes equinovarus].

Objective: To investigate the mechanism of transcription regulation of GLI3 gene in idiopathic congenital talipes equinovarus.

Methods: pGL3-Gli3 luciferase report vectors were constructed, and the activity of Gli3 promoter was explored. A P-Match software was used to analyze the sequence upstream of the transcription start site of rat Gli3 gene, which was subsequently verified with chromatin immunoprecipitation assay (CHIP) and electrophoretic mobility shift assay (EMSA).

[Possible role of GLI3 gene in the pathogenesis of idiopathic congenital talipes equinovarus].

Objective: To investigate the relationship between GLI3 gene and pathogenesis of idiopathic congenital talipes equinovarus (ICTEV).

Method: Potential mutations in the coding region of GLI3 were detected among 84 patients with ICTEV by denaturing gradient electrophoresis. Expression of GLI3 in the ICTEV patients' disease tissues was assessed by reverse transcription PCR.

[The regulation of UTROPHIN expression by EN1].

To investigate possible factors up-regulating the expression of UTROPHIN, potential regulatory elements in the promoter of the human UTROPHIN was predicted by P-match software and verified by EMSA and ChIP. The mechanism of EN1 regulation of the human UTROPHIN expression was evaluated by RNA interference and real-time PCR analyses. Two potential EN1 binding sites in UTROPHIN promoter region were predicted by P-Match software but only the second site was verified to interact directly with EN1 by EMSA and ChIP.

[Molecular and prenatal diagnosis of a pedigree with spinocerebellar ataxia].

Objective: To identify the type of a pedigree with spinocerebellar ataxia, and carry out asymptomatic carrier detection and prenatal diagnosis.

Methods: The blood samples of two patients in the spinocerebellar ataxia pedigree were collected. Based on the clinical characteristics of the pedigree and the disease incidence in China, the regions containing the CAG repeat of the SCA1, SCA2 and SCA3/MJD genes were amplified by polymerase chain reaction (PCR).

[The functions of GLI3 and EN1 genes in idiopathic congenital talipes equinovarus].

To investigate the role of gene Gli3 in idiopathic congenital talipes equinovarus (ICTEV), we constructed the Gli3 luciferase reporter gene expression vectors to analyze the promoter activity of the rat gene Gli3. The regulatory element in the promoter region of the rat Gli3 was predicted using P-Match software and further verified by ChIP experiment. Meanwhile, the correlation between the rat En1 and ICTEV was evaluated by RT-PCR, immunohistochemistry, and Western blotting analyses.

The expression of Gli3, regulated by HOXD13, may play a role in idiopathic congenital talipes equinovarus.

Background: Idiopathic congenital talipes equinovarus (ICTEV) is a congenital limb deformity. Based on extended transmission disequilibrium testing, Gli-Kruppel family member 3 (Gli3) has been identified as a candidate gene for ICTEV. Here, we verify the role of Gli3 in ICTEV development.

Identification of genetic variants in the human indoleamine 2,3-dioxygenase (IDO1) gene, which have altered enzyme activity.

Objectives: Indoleamine 2,3-dioxygenase (IDO), a rate-limiting enzyme in tryptophan catabolism, is a key regulator of immune tolerance. We identified genetic variations in the IDO1 gene and evaluated their functional activities using in-vitro transfection studies.

Methods: We resequenced the exons and the intron/exon borders of the IDO1 gene in 96 samples from the Coriell DNA Repository.