HMGA2 gene polymorphisms and Wilms tumor susceptibility in Chinese children: a four-center case-control study.

Wilms tumor is a kidney malignancy that typically occurs in children. Aberrant expression of HMGA2 gene is commonly seen in many malignant tumors. Yet, HMGA2 gene polymorphisms on Wilms tumor risk are not established.

Control of spintronic and electronic properties of bimetallic and vacancy-ordered vanadium carbide MXenes via surface functionalization.

MXenes are 2D transition metal carbides with high potential for overcoming limitations of conventional two-dimensional electronics. In this context, various MXenes have shown magnetic properties suitable for applications in spintronics, yet the number of MXenes reported so far is far smaller than their parental MAX phases. Therefore, we have studied the structural, electronic and magnetic properties of bimetallic and vacancy-ordered MXenes derived from a new (VZr)AlC MAX phase to assess whether MXene exfoliation would return stable magnetic materials.

Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.

Background: PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG might lead to the loss of PMM2, which is responsible for the conversion of mannose 6- phosphate into mannose 1-phosphate. Most patients with PMM2-CDG have central nervous system involvement, abnormal coagulation, and hepatopathy.

Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility.

Wilms tumor is one of the most common pediatric solid tumors. The pair-like homeobox 2b (PHOX2B) gene is an important transcription factor that regulates cellular proliferation and differentiation in early life. The association between PHOX2B single nucleotide polymorphisms (SNPs) and Wilms tumor risk has not been investigated.

rs4938723 T>C Decreases Neuroblastoma Risk: A Replication Study in the Hunan Children.

Neuroblastoma is the most common seen solid neural tumor in children less than age one. As mutation in the gene is observed in several types of human malignancies, there likely to be similar events that contribute to the pathogenesis of neuroblastoma. We hypothesize that polymorphism in the gene might predispose to neuroblastoma.

Structure and magnetic properties of highly oriented LaBaCoO films deposited on Si wafers with Pt/Ti buffer layer.

Fabrication of highly crystalline oxide films onto silicon wafers has long been a critical obstacle for integrating multi-functional oxides into silicon-based technology. Herein, Pt/Ti is used as a buffer layer for the integration of highly oriented crystalline LaBaCoO (LBCO) thin films onto silicon via pulsed laser deposition. LBCO films are highly (00l) oriented with smooth and sharp LBCO/Pt interfaces.

NbSeTe-a new layered transition metal dichalcogenide superconductor.

Transition metal dichalcogenides (TMDCs) usually exhibit layered polytypic structures due to the weak interlayer coupling. 2H-NbSe is one of the most widely studied in the pristine TMDC family due to its high superconducting transition temperature (T   =  7.3 K) and the occurrence of a charge-density wave (CDW) order below 33 K.

Superconducting behavior of a new metal iridate compound, SrIr, under pressure.

Herein, we investigated the pressure dependence of electric transport in a new type of superconducting metal iridate compound, SrIr, that exhibits a superconducting transition temperature, T , as high as 6.6 K at ambient pressure, in order to complete the T -pressure (p ) phase diagram. Very recently, this sample's superconductivity was discovered by our group, but the superconducting behavior has not yet been clarified under pressure.

Body Mass Index Drives Changes in DNA Methylation: A Longitudinal Study.

Rationale: Previous EWASs (Epigenome-Wide Association Studies) suggest that obesity may be the cause, not a consequence, of changes in DNA methylation (DNAm). However, longitudinal observations are lacking.

Objective: To identify 5'-cytosine-phosphate-guanine-3' in DNA (CpG) sites associated with body mass index (BMI) and examine the temporal relationship between dynamic changes in DNAm and BMI in a longitudinal cohort.

Thermally switchable terahertz wavefront metasurface modulators based on the insulator-to-metal transition of vanadium dioxide.

Active use of phase transition phenomena for reversibly tuning the properties of functional materials in devices currently is an attractive research area of materials science. We designed and fabricated two kinds of metasurface modulators for dynamically controlling the wavefront of terahertz (THz) radiation based on the temperature-induced insulator-to-metal phase transition of vanadium dioxide (VO). The modulators designed are based on the C-shaped slot antenna array.

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017.

Thermoelectric Figure-of-Merit of Fully Dense Single-Crystalline SnSe.

Single-crystalline SnSe has attracted much attention because of its record high figure-of-merit ≈ 2.6; however, this high has been associated with the low mass density of samples which leaves the intrinsic of fully dense pristine SnSe in question. To this end, we prepared high-quality fully dense SnSe single crystals and performed detailed structural, electrical, and thermal transport measurements over a wide temperature range along the major crystallographic directions.

Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.

In this study, we evaluated the incidence and genetic characteristics of hyperphenylalaninemia (HPA) in Xiamen, China. We analyzed the newborn screening data of HPA, obtained using a fluorometric method and tandem mass spectrometry (MS/MS), from 2013 to 2017. The suspected positive samples were further diagnosed using MassArray technology, multiplex ligation-dependent probe amplification (MLPA), and Sanger sequencing.

Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.

Background: Isovaleric acidemia (IVA), a rare autosomal recessive disorder in leucine metabolism caused by defected IVD gene, is characterized by episodes of acute metabolic crisis and psychomotor development retardation. This study aimed to determine the clinical, biochemical, and mutation spectrum of patients with IVA from mainland China.

Methods: Eight patients (three boys and five girls) from eight unrelated families were collected, IVD gene mutations and phenotypes were examined.

gene polymorphisms and neuroblastoma susceptibility in Chinese children.

Neuroblastoma is a heterogeneous cancer frequently occurring in childhood. Germline mutations of oncogene are implicated in several types of cancer. However, whether common single nucleotide polymorphisms (SNPs) in gene are associated with neuroblastoma risk has received relatively few attentions.

LncRNA HOTAIR-mediated Wnt/β-catenin network modeling to predict and validate therapeutic targets for cartilage damage.

Background: Cartilage damage is a crucial feature involved in several pathological conditions characterized by joint disorders, such as osteoarthritis and rheumatoid arthritis. Accumulated evidences showed that Wnt/β-catenin pathway plays a role in the pathogenesis of cartilage damage. In addition, it is experimentally documented that lncRNA (long non-coding RNA) HOTAIR plays a key role in the regulation of Wnt/β-catenin pathway based on directly decreased WIF-1 expression.

MYCN gene polymorphisms and Wilms tumor susceptibility in Chinese children.

Background: Wilms tumor, derived from embryonic cells, accounts for a large proportion of pediatric renal tumors. MYCN encoded by MYCN proto-oncogene, a member of the MYC family, is a BHLH transcription factor. It plays a critical role in tumorigenesis and predicts poor clinical outcomes in various types of cancer.

Polymorphisms and Neuroblastoma Risk in Chinese Children: A Three-Center Case-Control Study.

Neuroblastoma is a life-threatening extracranial solid tumor, preferentially occurring in children. However, its etiology remains unclear. is a critical gene in the base excision repair (BER) system responsible for maintaining genome stability.

LIN28A gene polymorphisms confer Wilms tumour susceptibility: A four-centre case-control study.

Wilms tumour is a renal malignancy that commonly occurs in children. LIN28A gene overexpression has been reported to be involved in various human malignancies, while its roles in Wilms tumour risk are still under investigation. Here, we genotyped four LIN28A polymorphisms in 355 Wilms tumour patients and 1070 healthy controls from four hospitals in China.

Association of miR-34b/c rs4938723 and TP53 Arg72Pro Polymorphisms with Neuroblastoma Susceptibility: Evidence from Seven Centers.

Neuroblastoma is a pediatric malignancy arising from the developing peripheral nervous system. p53 and downstream effector miR-34b/c have critical tumor suppressing functions. TP53 Arg72Pro (rs1042522 C > G) and miR-34b/c rs4938723 (T > C) polymorphisms have been known to modify cancer susceptibility.

Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients.

Purpose: To study the roles of sequence alterations in the optineurin () gene-coding region in normal-tension glaucoma (NTG) among Chinese patients.

Methods: Genomic DNA was extracted from 190 NTG patients and 201 control subjects. The thirteen exons of were amplified by polymerase chain reaction and analyzed by direct sequencing.

A Deep Learning-Based Decision Support Tool for Precision Risk Assessment of Breast Cancer.

Purpose: The Breast Imaging Reporting and Data System (BI-RADS) lexicon was developed to standardize mammographic reporting to assess cancer risk and facilitate the decision to biopsy. Because of substantial interobserver variability in the application of the BI-RADS lexicon, the decision to biopsy varies greatly and results in overdiagnosis and excessive biopsies. The false-positive rate from mammograms is estimated to be 7% to approximately 10% overall, but within the BI-RADS 4 category, it is greater than 70%.

Cis-regulatory genetic variants in the CCR5 gene and natural HIV-1 control in black South Africans.

Studies have investigated CCR5 haplotypes (HHA, HHB, HHC, HHD, HHE, HHF*1, HHF*2, HHG*1, HHG*2), defined by seven 5'UTR single nucleotide polymorphisms (SNPs), CCR2-V64I and CCR5Δ32, in HIV-1 disease. CCR5 cis-regulatory regions were sequenced, CCR2-V64I and CCR5Δ32 genotyped, and compared in HIV-1-infected black South Africans: 71 HIV-1 controllers (23 elite controllers, 37 viraemic controllers (VCs), 11 high viral load long-term non-progressors) and 74 progressors. The HHE haplotype and 3'UTR +2919 T > G SNP heterozygosity were underrepresented in total controllers and VCs vs.