Optimization and Clinical Application Potential of Single Nucleotide Polymorphism Detection Method Based on CRISPR/Cas12a and Recombinase Polymerase Amplification.

Conventional methods for detecting single nucleotide polymorphisms (SNPs) in clinical practice often require substantial time, labor, and specialized equipment, limiting their widespread application. To address this limitation, we refined our previous SNP detection method, IMAS-RPA [introducing an extra mismatched base adjacent to the single-base mutant site by recombinase polymerase amplification (RPA)], resulting in an updated version termed IMAS-RPAv2. We began by introducing a suboptimal protospacer adjacent motif (PAM) sequence, GTTG, into the double-stranded DNA (dsDNA) products using either RPA or reverse transcription RPA.

The impact of PM on lung function and chronic respiratory diseases: insights from genetic evidence.

Background: PM has been associated with various adverse health effects, particularly affecting lung function and chronic respiratory diseases. However, the genetic causality relationship between PM exposure and lung function as well as chronic respiratory diseases remains poorly understood.

Method: We conducted a two-sample Mendelian randomization analysis to investigate the causal impact of PM on lung function and chronic respiratory diseases.

Rapid Enrichment of a Native Multipass Transmembrane Protein via Cell Membrane Electrophoresis through Buffer pH and Ionic Strength Adjustment.

Supported membrane electrophoresis is a promising technique for collecting membrane proteins in native bilayer environments. However, the slow mobility of typical transmembrane proteins has impeded the technique's advancement. Here, we successfully applied cell membrane electrophoresis to rapidly enrich a 12-transmembrane helix protein, glucose transporter 1 with antibodies (GLUT1 complex), by tuning the buffer pH and ionic strength.

Maternal tobacco exposure during pregnancy and atopic dermatitis in offspring: A systematic review and meta-analysis.

The main purpose of this review was to examine the evidence of the relationship between active smoking or passive smoking during pregnancy and atopic dermatitis in offspring. The protocol was written following the PRISMA Checklist and was registered in the PROSPERO database (registration number CRD42022381136). We implemented a comprehensive search in PubMed, Embase and Web of Science databases to identify all potentially related articles from inception through 1 December 2022.

Size-selective adhesion of calcium oxalate monohydrate crystals to lipid membranes.

The retention of calcium oxalate monohydrate (COM) crystals on cell membranes is pivotal in kidney stone formation. However, the mechanisms underlying COM attachment to neutral lipid membranes remain unclear. In this study, we demonstrate that COM exhibits size-selective adhesion to fluid lipid membranes composed of lipids with distinct sizes.

Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies.

Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by complex mutations in the dystrophin gene (). Currently, there is no integrative method for the precise detection of all potential variants, a gap which we aimed to address using long-read sequencing. The captured long-read sequencing panel developed in this study was applied to 129 subjects, including 11 who had previously unsolved cases.

A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.

Background: Oculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis, ophthalmoplegia and weakness of the facial, pharyngeal and limb muscles. Trinucleotide repeat expansions in non-coding regions of LRP12, G1PC1, NOTCH2NLC and RILPL1 were reported to be the etiologies for OPDM.

Results: In this study, we performed long-read whole-genome sequencing in a large five-generation family of 156 individuals, including 21 patients diagnosed with typical OPDM.

Using the Water Absorption Ability of Dried Hydrogels to Form Hydrogel-Supported Lipid Bilayers.

The formation of supported lipid bilayers (SLBs) on hydrogels can act as a biocompatible anti-fouling interface. However, generating continuous and mobile SLBs on materials other than conventional glass or mica remains a significant challenge. The interaction between lipid membrane vesicles and a typical hydrogel is usually insufficient to induce membrane vesicle rupture and form a planar lipid membrane.

Particulate matter and inflammatory skin diseases: From epidemiological and mechanistic studies.

Epidemiological and toxicological studies have confirmed that exposure to atmospheric particulate matter (PM) could affect our cardiovascular and respiratory systems. Recent studies have shown that PM can penetrate the skin and cause skin inflammation, but the evidence is limited and contradictory. As the largest outermost surface of the human body, the skin is constantly exposed to the environment.

Non-Electroneutrality Generated by Bacteriorhodopsin-Incorporated Membranes Enhances the Conductivity of a Gelatin Memory Device.

We have previously demonstrated the potential of gelatin films as a memory device, offering a novel approach for writing, reading, and erasing through the manipulation of gelatin structure and bound water content. Here, we discovered that incorporating a bacteriorhodopsin (BR)-lipid membrane into the gelatin devices can further increase the electron conductivity of the polypeptide-bound water network and the ON/OFF ratio of the device by two folds. Our photocurrent measurements show that the BR incorporated in the membrane sandwiched in a gelatin device can generate a net proton flow from the counter side to the deposited side of the membrane.

Point-of-care detection of Neisseria gonorrhoeae based on RPA-CRISPR/Cas12a.

Gonorrhea, caused by Neisseria gonorrhoeae (N. gonorrhoeae), is a persistent global public health threat. The development of low-cost, point-of-care testing is crucial for gonorrhea control, especially in regions with limited medical facilities.

Cas12a/Guide RNA-Based Platforms for Rapidly and Accurately Identifying Staphylococcus aureus and Methicillin-Resistant S. aureus.

In order to ensure the prevention and control of methicillin-resistant Staphylococcus aureus (MRSA) infection, rapid and accurate detection of pathogens and their resistance phenotypes is a must. Therefore, this study aimed to develop a fast and precise nucleic acid detection platform for identifying S. aureus and MRSA.

Two CRISPR/Cas12a-based methods for fast and accurate detection of single-base mutations.

Current single-base mutation detection approaches are time-consuming, labor-intensive, and costly. This highlights the critical need for speedy and accurate technology capable of detecting single-base alterations. Using clustered regularly interspaced short palindromic repeats/associated protein 12a (CRISPR/Cas12a), two fundamental approaches for getting 100% differentiation of single-base mutations have been established, by which fluorescence signals could be detected for variants but not for wild strains.

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Purpose: Pheochromocytoma/paraganglioma (PCC/PGL; collectively known as PPGL) can be driven by germline and somatic mutations in susceptibility genes. We aimed to investigate the mutation profile and clinical features of pathogenic genes in highly genetically heterogeneous PPGL and to preliminary explore molecular therapeutic targets in PPGL.

Methods: We established a panel of 260 genes, including susceptibility genes of PPGL and other important tumorigenic genes to sequence 107 PPGL tissues.

Ambient temperature exposure and risk of outpatient visits for dermatologic diseases in Xinxiang, China: a time-series analysis.

The effect of ambient temperature on dermatologic diseases has received widespread attention. Previous studies have shown that ambient temperature might affect specific dermatologic diseases, but results were inconsistent. This study aims to assess the short-term effect of ambient temperature on outpatient visits due to dermatologic diseases (DMs) in Xinxiang, China.

Convergence between germline and somatic mutations in pancreatic neuroendocrine tumors.

Objectives: The pancreatic neuroendocrine tumors (PanNETs) are a group of clinically heterogeneous neoplasms. Although previous studies illustrated the somatic mutation pattern for PanNETs, the germline mutation pattern is still unclear. Here, we comprehensively screened the underlying germline mutations in a cohort of multiple endocrine neoplasia type 1 (MEN1)-related and sporadic PanNETs to reveal the characteristics of germline mutation in PanNET patients.

Formation of Supported Thylakoid Membrane Bioanodes for Effective Electron Transfer and Stable Photocurrent.

The light-dependent reactions of photosynthesis use light energy to generate photoelectrons traveling through the thylakoid membranes (TMs). Extracting the photoelectrons from the TMs to form bioanodes can have various applications. Most studies focus on modifying the electrode materials to increase the collected photocurrent.

Development of Cell Membrane Electrophoresis to Measure the Diffusivity of a Native Transmembrane Protein.

The lateral diffusion of transmembrane proteins in cell membranes is an important process that controls the dynamics and functions of the cell membrane. Several fluorescence-based techniques have been developed to study the diffusivities of transmembrane proteins. However, it is challenging to measure the diffusivity of a transmembrane protein with slow diffusion because of the photobleaching effect caused by long exposure times or multiple exposures to light.

Higher nitrogen content and auxin export from rice tiller enhance low-ammonium-dependent tiller outgrowth.

In the early growth stage, nutrient uptake by rice roots is weak. However, rice tillering at this stage would require high N input. Thus, it is vital to clarify the mechanism involved in tillering capacity with low N inputs.

Effects of ambient temperature on outpatient visits for dermatitis in Xinxiang, China: a time-series analysis.

Previous studies have reported regional variations in the relationship between ambient temperature and dermatitis, which therefore remain inconclusive. This study aimed to understand the short-term effects of ambient temperature in outpatients with dermatitis in Xinxiang. Routine data of dermatitis outpatient visits between January 1, 2015, and December 31, 2018 were acquired from the First Affiliated Hospital of Xinxiang Medical University.

Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas.

Purpose: Recently, pheochromocytomas and paragangliomas (PPGLs) have been strongly suspected as hereditary tumors, as approximately 40% of patients carry germline mutations. In the cancers where defects occur to corrupt DNA repair and facilitate tumorigenesis, a strong association has been observed. Therefore, the purpose of this study was to investigate the effect of mutations for its possible pathogenicity in PPGLs.

Corrigendum: Sequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the Gene Based on Long-Read Sequencing.

[This corrects the article DOI: 10.3389/fgene.2021.

Sequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the Gene Based on Long-Read Sequencing.

Exon deletions make up to 80% of mutations in the DMD gene, which cause Duchenne and Becker muscular dystrophy. Exon 45-55 regions were reported as deletion hotspots and intron 44 harbored more than 25% of deletion start points. We aimed to investigate the fine structures of breakpoints in intron 44 to find potential mechanisms of large deletions in intron 44.