Generation of a human induced pluripotent stem cell line (SMUSHi002-A) from an ALS patient carrying a heterozygous mutation c.1562G > A in the FUS gene.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Affected patients experience gradual loss of their spinal cord and cortical motor neurons with consequent muscle weakness and emaciation, and eventual respiratory failure. The pathogenesis of ALS remains largely unknown although the FUS (sarcoma fusion gene) gene is known to be one of the major pathogenic genes.

Periconceptional folate and gestational diabetes mellitus: a systematic review and meta-analysis of cohort studies.

Objective: To examine the relationship between periconceptional folate exposure and risk of gestational diabetes mellitus (GDM).

Methods: Several electronic databases, including PubMed, Embase, China National Knowledge Infrastructure (CNKI), China Biology Medicine (CBM), and Cochrane Library, were searched for all relevant cohort studies by January 2021. Studies on relationship between folate exposure (intake or status) and GDM risk were included.

Generation of a human induced pluripotent stem cell line (SBWCHi001-A) from a patient with NEDSDV carrying a pathogenic mutation in CTNNB1 gene.

Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare disease. Patients with NEDSDV are usually accompanied by microcephaly, severe mental retardation, spasticity, and global developmental delay. Recent studies showed that mutations in CTNNB1 are responsible for the phenotype.

Identification of novel and gene mutations in Chinese amyotrophic lateral sclerosis patients with HRM analysis.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive loss of motor neurons. More than 30 genes have been linked to ALS to date, including and , which exhibit similar roles in RNA metabolism. This study explored the use of high-resolution melting (HRM) analysis to screen for and mutation hotspot regions in 146 Chinese ALS patients, which achieved 100% detection.

Quantitative analysis of chromatin accessibility in mouse embryonic fibroblasts.

Genomic DNA of eukaryotic cells is hierarchically packaged into chromatin by histones. The dynamic organization of chromatin fibers plays a critical role in the regulation of gene transcription and other DNA-associated biological processes. Recently, numerous approaches have been developed to map the chromatin organization by characterizing chromatin accessibilities in genome-wide.

Effects of long term low- and high-dose sodium arsenite exposure in human transitional cells.

Epidemiological studies have revealed the association between increased risk of bladder cancer and chronic arsenic exposure. Here, we explored biological effects of arsenic in T24. Microarray analysis was applied to analyze mRNA in T24 following 0, 2 or 5 μM sodium arsenite (As) exposure for 72 hours.