Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene.

Background: Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease. Our goal is to analyze intronic variants in PKHD1 at the mRNA level.

Three exonic variants in the gene cause aberrant splicing in a minigene assay.

X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level. However, growing evidence indicates that some of these variants may alter pre-mRNA splicing, causing diseases.

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay.

Type IV collagen is an integral component of basement membranes. Mutations in COL4A1, one of the key genes encoding Type IV collagen, can result in a variety of diseases. It is clear that a significant proportion of mutations that affect splicing can cause disease directly or contribute to the susceptibility or severity of disease.

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the SALL1 gene, which encodes zinc finger protein believed to function as a transcriptional repressor.

Disentangling influences of driving forces on intra-annual variability in sediment discharge in karst watersheds.

The intra-annual variability in sediment discharge was considerably influenced by the climate variability and vegetation dynamics. Because of the coupled or relationships between climatic and vegetation variables, it is still challenging to decouple the direct and indirect effects of climate variability and vegetation dynamics on hydrological and sediment transport processes. The purpose of this study is to decouple influences of individual driving force on intra-annual distribution of sediment discharge during 2003-2017 using the partial least squares structural equation model (PLS-SEM) method in four typical karst watersheds of Southwest China.

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.

Background: X-linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of the pre-mRNA by altering various splicing regulatory signals. The male patients with XLAS have a strong genotype-phenotype correlation.

Functional analysis of the CTNS gene exonic variants predicted to affect splicing.

Cystinosis is a severe, monogenic systemic disease caused by variants in CTNS gene. Currently, there is growing evidence that exonic variants in many diseases can affect pre-mRNA splicing. The impact of CTNS gene exonic variants on splicing regulation may be underestimated due to the lack of routine studies at the RNA level.

Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 gene or PKD2 gene. There is increasing evidence that some of these variants, which are described as missense, synonymous or nonsense mutations in the literature or databases, may be deleterious by affecting the pre-mRNA splicing process.

Results: This study aimed to determine the effect of these PKD1 and PKD2 variants on exon splicing combined with predictive bioinformatics tools and minigene assay.

Idealizing Tauc Plot for Accurate Bandgap Determination of Semiconductor with Ultraviolet-Visible Spectroscopy: A Case Study for Cubic Boron Arsenide.

The Tauc plot is widely used to determine the bandgap of semiconductors, but the actual plot often exhibits significant baseline absorption below the expected bandgap, leading to bandgap discrepancies from two different extrapolations. In this work, we first discuss the origin of baseline absorption and show that both extrapolation methods can produce significant errors by simulating Tauc plots with varying levels of baseline absorption. We then propose and experimentally verify a new method that idealizes the absorption spectrum by removing its baseline before constructing the Tauc plot.

Carbon hollow fiber membranes for a molecular sieve with precise-cutoff ultramicropores for superior hydrogen separation.

Carbon molecular sieve (CMS) membranes with rigid and uniform pore structures are ideal candidates for high temperature- and pressure-demanded separations, such as hydrogen purification from the steam methane reforming process. Here, we report a facile and scalable method for the fabrication of cellulose-based asymmetric carbon hollow fiber membranes (CHFMs) with ultramicropores of 3-4 Å for superior H separation. The membrane fabrication process does not require complex pretreatments to avoid pore collapse before the carbonization of cellulose precursors.

Air/water interfacial assembled rubbery semiconducting nanofilm for fully rubbery integrated electronics.

A rubber-like stretchable semiconductor with high carrier mobility is the most important yet challenging material for constructing rubbery electronics and circuits with mechanical softness and stretchability at both microscopic (material) and macroscopic (structural) levels for many emerging applications. However, the development of such a rubbery semiconductor is still nascent. Here, we report the scalable manufacturing of high-performance stretchable semiconducting nanofilms and the development of fully rubbery transistors, integrated electronics, and functional devices.

Ultra-conformal drawn-on-skin electronics for multifunctional motion artifact-free sensing and point-of-care treatment.

An accurate extraction of physiological and physical signals from human skin is crucial for health monitoring, disease prevention, and treatment. Recent advances in wearable bioelectronics directly embedded to the epidermal surface are a promising solution for future epidermal sensing. However, the existing wearable bioelectronics are susceptible to motion artifacts as they lack proper adhesion and conformal interfacing with the skin during motion.