with break points in introns 11 and 13 resulting in loss of exons 12 and 13 (Figure 2A and B). Further examination of the region showed a 34-bp repeat (differing by only 1 bp) flanking the break points, suggesting homologous recombination as the mechanism for generating this deletion. The predicted result of this deletion would be that exon 11 splices directly to exon 14 and remains in frame, r...

Maple syrup urine disease (MSUD) or branched-chain alpha-ketoaciduria is an autosomally inherited disorder in the catabolism of branched-chain amino acids leucine, isoleucine, and valine. The disease is characterized by severe ketoacidosis, mental retardation, and neurological impairments. MSUD can be classified into genetic subtypes according to the genes of the branched-chain alpha-ketoacid d...

The base composition around a recently detected deletion in the human beta-globin gene was determined by direct DNA sequencing of an enzymatically amplified DNA segment. The deletion removes 290 base pairs (bp), including the entire exon 1 and the mRNA cap site. In the vicinity of the deletion endpoints, the normal beta-globin gene contains direct and inverted repeats which may have taken part ...

We herein report a 58-year-old Japanese woman who survived 14 years after surgery for lung adenocarcinoma harboring an epidermal growth factor receptor (EGFR) exon 19 deletion. She developed recurrence, for which she underwent multimodal therapy, including EGFR-tyrosine kinase inhibitor (TKI) administration. She ultimately died from a rapidly progressive right lung tumor that was resistant to E...

The structure of factor IX gene was analyzed in a hemophilia B patient with inhibitor. Genomic DNA, digested with a variety of restriction endonucleases, was hybridized with the cDNA and various genomic factor IX probes. A large subtotal deletion of the gene was observed. The borders of the deletion span from a approximately 125 nucleotide region within the last exon to an unknown domain at lea...

BACKGROUND The aim of this retrospective study is to identify epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer patients and to compare the long-term postoperative outcomes in different EGFR-TKI-targeted therapy effects between the different EGFR mutation groups. METHODS A total of 2094 postoperative non-small cell lung cancer (NSCLC) patients with EGFR gene dete...

Human erythroid a-spectrin alleles responsible for heredinormal sequence at codon 1857 and retaining the exon 46 encoded sequence. The codon 1857 mutation does not adtary elliptocytosis (a alleles) undergo increased incorporation into red blood cell membranes when the polymorphism versely affect dimer formation, but it is responsible for the increased trypsin cleavage between the aIV and aV dom...

A cohort of 404 patients referred for hereditary neuropathy with liability to pressure palsies was tested initially for the common PMP22 whole gene deletion. 94 whole gene deletions were detected, plus three partial gene deletions, and the remaining 307 patients were screened for PMP22 point mutations. Nine point mutations were identified (8.5% of all mutations), eight of which were in exon 5, ...

An exon 19 deletion and a L858R mutation in exon 21 of the epidermal growth factor receptor (EGFR) are the two most common mutations that predict favorable efficacy of EGFR tyrosine kinase inhibitors (TKIs) in patients with non-small cell lung cancer (NSCLC). Many retrospective and prospective studies, as well as meta-analyses including patients with NSCLC with various lines of EGFR TKI treatme...

Bi-allelic frameshift mutations leading to PTC in COL7A1 are frequent causal of recessive dystrophic epidermolysis bullosa (RDEB). Several studies including ours showed that exons encoding the collagenous domain type VII collagen (C7) could be therapeutically skippable without apparent functional consequences for protein function. However, long-term vivo phenotypic targeted exon deletion and co...