Small Molecule Fluorescent Probes for Glutathione S-Transferase.

Cytoplasmic glutathione S-transferase (GST) is a key enzyme in cellular detoxification, catalysing the nucleophilic attack of glutathione (GSH) with toxic electrophilic substrates to produce less harmful compounds, thus aiding cellular detoxification. Studies have shown that GST is closely associated with the development of resistance to chemotherapeutic drugs, pesticides, herbicides and antibiotics, and the development of drug resistance in organisms poses new challenges in areas such as environmental protection and tumour therapy. In order to clarify the mechanism of GST in the development of drug resistance and detect the content of GST more accurately, this paper summarized the mechanism of GST on the development of drug resistance in different organisms, the types and research progress of organic small molecule fluorescence probes for GST imaging detection are introduced.

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice.

Syndactyly type V (SDTY5) is an autosomal dominant extremity malformation characterized by fusion of the fourth and fifth metacarpals. In the previous publication, we first identified a heterozygous missense mutation Q50R in homeobox domain (HD) of HOXD13 in a large Chinese family with SDTY5. In order to substantiate the pathogenicity of the variant and elucidate the underlying pathogenic mechanism causing limb malformation, transcription-activator-like effector nucleases (TALEN) was employed to generate a Hoxd13Q50R mutant mouse.

Rapid Screening of 34 Emerging Contaminants in Surface Water by UHPLC-Q-TOF-MS.

Objectives: To establish a rapid screening method for 34 emerging contaminants in surface water by ultra-high performance liquid chromatography-quadrupole-time of flight mass spectrometry (UHPLC-Q-TOF-MS).

Methods: The pretreatment conditions of solid phase extraction (SPE) were optimized by orthogonal experimental design and the surface water samples were concentrated and extracted by Oasis HLB and Oasis MCX SPE columns in series. The extracts were separated by Kinetex EVO C18 column, with gradient elution of 0.

The effect of total sleep deprivation on working memory: evidence from diffusion model.

Study Objectives: Working memory is crucial in human daily life and is vulnerable to sleep loss. The current study investigated the impact of sleep deprivation on working memory from the information processing perspective, to explore whether sleep deprivation affects the working memory via impairing information manipulation.

Methods: Thirty-seven healthy adults attended two counterbalanced protocols: a normal sleep night and a total sleep deprivation (TSD).

Nickel-catalyzed direct stereoselective α-allylation of ketones with non-conjugated dienes.

The development of efficient and sustainable methods for the construction of carbon-carbon bonds with the simultaneous stereoselective generation of vicinal stereogenic centers is a longstanding goal in organic chemistry. Low-valent nickel(0) complexes which promote α-functionalization of carbonyls leveraging its pro-nucleophilic character in conjunction with suitable olefin acceptors are scarce. We report a Ni(0)NHC catalyst which selectively converts ketones and non-conjugated dienes to synthetically highly valuable α-allylated products.

[Genetic analysis of two families with Short-rib thoracic dysplasia type 3].

Objective: To explore the pathogenic variants and clinical classification of two fetuses with Short-rib thoracic dysplasia with or without polydactyly (SRTD).

Methods: With informed consent obtained, the phenotypic characteristics of the fetuses were comprehensively examined, and genomic DNA was extracted from fetal skin tissue and peripheral blood samples of the parents with conventional phenol-chloroform method. Whole exome sequencing (WES) was carried out on both fetuses, and the candidate variants were validated by Sanger sequencing.

Identification of FCER1G as a key gene in multiple myeloma based on weighted gene co-expression network analysis.

Purpose: Although the prognosis of multiple myeloma (MM) has remarkably improved with the emerge of novel agents, it remains incurable and relapses inevitably. The molecular mechanisms of MM have not been well-studied. Herein, this study aimed to identify key genes in MM.

Clinical and genetic analysis in Chinese families with synpolydactyly, and cellular localization of HOXD13 with different length of polyalanine tract.

Synpolydactyly (SPD) is caused by mutations in the transcription factor gene . Such mutations include polyalanine expansion (PAE), but further study is required for the phenotypic spectrum characteristics of PAE. We investigated four unrelated Chinese families with significant limb malformations.

CRISPR/Cas9 correction of a dominant cis-double-variant in COL1A1 isolated from a patient with osteogenesis imperfecta increases the osteogenic capacity of induced pluripotent stem cells.

Osteogenesis imperfecta (OI) is a hereditary skeletal disorder that is mainly caused by variants in COL1A1/2. So far, no specific treatment has been developed to correct its underlying etiology. We aimed to gain a better understanding of the pathological mechanisms of OI and develop gene therapies to correct OI-causing variants.

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.

Background: Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑linked gene (PHEX) account for most cases of HR. The aim of this study was to identify causative variants in nine unrelated Chinese families associated with HR, and to determine potential pathogenicity of the identified variants.

Photoinduced Arylation of Acridinium Salts: Tunable Photoredox Catalysts for C-O Bond Cleavage.

A photoinduced arylation of N-substituted acridinium salts has been developed and has exhibited a high functional group tolerance (e.g., halogen, nitrile, ketone, ester, and nitro).

Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.

Background: Spondyloepi(meta)physeal dysplasias (SE[M]D) are a group of inherited skeletal disorders that mainly affect bone and cartilage, and next-generation sequencing has aided the detection of genetic defects of such diseases. In this study, we aimed to identify causative variants in four Chinese families associated with SE(M)D.

Methods: We recruited four unrelated Chinese families all displaying short stature and growth retardation.

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.

Osteogenesis imperfecta (OI) is a rare heritable skeletal disorder which is mainly caused by defected type I collagen. Autosomal recessive OI (AR-OI) is caused by mutations of genes that are responsible for type I collagen modification and folding, and is often associated with more severe phenotypes. Due to the limited number of recessive OI patients, it has been difficult to study the mutation spectrum as well as the correlation of genotype and phenotype.

Catalytic Enantioselective Functionalizations of C-H Bonds by Chiral Iridium Complexes.

The development of catalytic enantioselective transformations, enabling the construction of complex molecular scaffolds from simple precursors, has been a long-standing challenge in organic synthesis. Recent achievements in transition-metal catalyzed enantioselective functionalizations of carbon-hydrogen (C-H) bonds represent a promising pathway toward this goal. Over the last two decades, iridium catalysis has evolved as a valuable tool enabling the stereocontrolled synthesis of chiral molecules via C-H activation.

A review on the recent development of cyclodextrin-based materials used in oilfield applications.

Cyclodextrin has been studied for more than 120 years. Due to the special structure and selectivity of the cyclodextrin cavity, native cyclodextrins, cyclodextrin derivatives and inclusion complexes have received extensive attention and are widely used in medicine, food, the environment, cosmetics, chemical analysis, separation technology, catalysts and other fields. Cyclodextrin-based materials have been applied to oilfields since the early 1980s and performed well in enhancing the performance of petroleum chemicals and improving the efficiency of oil exploration.

Increase in the Number of Bone Marrow Osteoclast Precursors at Different Skeletal Sites, Particularly in Long Bone and Jaw Marrow in Mice Lacking IL-1RA.

Recently, it was shown that interleukin-1β (IL-1β) has diverse stimulatory effects on different murine long bone marrow osteoclast precursors (OCPs) in vitro. In this study, interleukin-1 receptor antagonist deficient () and wild-type (WT) mice were compared to investigate the effects of enhanced IL-1 signaling on the composition of OCPs in long bone, calvaria, vertebra, and jaw. Bone marrow cells were isolated from these sites and the percentage of early blast (CD31 Ly-6C), myeloid blast (CD31 Ly-6C), and monocyte (CD31 Ly-6C) OCPs was assessed by flow cytometry.

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.

Background: Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts.

Methods: Detailed family history and clinical data were collected, and ophthalmological examinations were performed using slit-lamp photography.

Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta.

Osteogenesis Imperfecta (OI) is a rare inherited bone dysplasia, which is mainly caused by mutations in genes encoding type I collagen including and . It has been well established to identify the classical variants as well as consensus splicing-site-variants in these genes in our previous studies. However, how atypical variants affect splicing in OI patients remains unclear.