Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #443 (2001) Online http://journals.wiley.com/1059-7794/pdf/mutation/443.pdf

Abstract

Rett syndrome is an X-linked dominant neurodevelopmental disorder that affects females almost exclusively. The recent identification of mutations of the methyl-CpG-binding protein 2 gene (MECP2) in patients with RTT, encouraged us to analyze the gene in 37 Japanese patients divided into classical RTT (14 cases), variant RTT (13 cases), and mentally retarded patients with Rettlike features (10 cases). Mutations in MECP2 were identified from most of the patients with classical and variant RTT (25 of 27 cases). Six reported common mutations were detected in 17 cases, and rare single nucleotide substitutions were found in 3 patients. In addition, one insertion mutation (1189insA) and four deletion mutations including one double deletion mutant (451delG, 100del4, 1124del53 and 881del289 plus 1187del8) were newly identified. In the 10 mentally retarded patients with Rett-like features, however, no mutation was detected in the coding region of MECP2. The finding of MECP2 mutations in 92.5 % of patients with RTT indicates that RTT fulfilling the diagnostic criteria are due to genetic alteration.

Development of a low-cost copro-LAMP assay for simultaneous copro-detection of Toxocara canis and Toxocara cati

“…Genomic DNA (gDNA) extraction from cestode parasites was performed using the DNeasy Blood & Tissue Kit® (QIAGEN), following the manufacturer's instructions. The extraction of gDNA from nematode parasites was performed according to Repetto et al (2013), and DNA from E. coli (abundant in canine and feline feces) was extracted using the phenol-chloroform method (Sambrook and Russell, 2001). In each case, DNA concentrations were determined using a Nanodrop® Nd 1000 (Thermo Fisher Scientific, Waltham, Massachusetts, United States) and DNA integrity was assessed by electrophoresis in 1% agarose gel stained with GelRed® (Biotium®, San Francisco, California, United States) and UV visualization.…”

Time-Resolved Transcriptomics and Constraint-Based Modeling Identify System-Level Metabolic Features and Overexpression Targets to Increase Spiramycin Production in Streptomyces ambofaciens

“…Manipulation of E. coli DNA was performed as indicated by Sambrook and Russell (2001). PCR amplification conditions were 94°C for 5 min followed by 34 cycles of 94°C for 1 min, 65°C for 1 min and 72°C for 1 min, and finally 72°C for 10 min.…”