Epithelial Na(+) channel (ENaC) subunits (α, β, and γ) found in functional complexes are translated from mature mRNAs that are similarly processed by the inclusion of 13 canonical exons. We examined whether individual exons 3-12, encoding the large extracellular domain, are required for functional channel expression. Human ENaCs with an in-frame deletion of a single α-subunit exon were expresse...

After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly homologous SMN copy gene complicates the detection of exon 7 deletions. This paper describes the adjustme...

Having your work published in a good journal is the life-blood of research. Publications are the key element in scientific communication and influence future funding and cancer development for the authors. Every year more and more manuscripts are submitted and competition for acceptance is fierce. The editors of EJC recently held a workshop to discuss ways to improve manuscript writing, and thi...

OBJECTIVE The human GH-binding protein (GHBP) is derived from the GH receptor (GHR) through proteolytic cleavage of its extracellular domain. Two isoforms of the GHBP exist, differing in the retention or exclusion of exon 3: E3(+)GHBP and E3(-)GHBP. Our study aimed to answer the questions whether the level of E3(+)GHBP in the serum correlates with the GHR exon 3 expression and whether or not th...

Objective: To compare the response of first-generation EGFR-TKI (epidermal growth factor receptortyrosine kinase inhibitors) in non-small cell lung cancer (NSCLC) patients with single common anduncommon EGFR mutation.Methods: Patients were divided into two groups, uncommon (exon 21 L861Q, exon 18 G719X, exon18 delE709) and mutation group 19 deletion, L858R). Health-related qualityof life (HRQOL...

Human erythroid alpha-spectrin alleles responsible for hereditary elliptocytosis (alphaHE alleles) undergo increased incorporation into red blood cell membranes when the polymorphism alphaLELY (LELY: Low Expression LYon) occurs in trans. The alphaLELY polymorphism is characterized by a mutation in exon 40 at codon 1857 (CTA --> GTA, Leu --> Val) and the partial (50%) skipping of exon 46, which ...

A total of 226 index cases from high-risk hereditary breast and ovarian cancer families of German origin who had tested negative for small nucleotide alterations in BRCA1 and BRCA2 were analyzed for gross genomic rearrangements at the two gene loci by the multiplex ligation-dependent probe amplification technique. Six large genomic alterations were identified in BRCA1, while no gross rearrangem...

The CRISPR/Cas9 system is a great revolution in biology. This technology allows the modification of genes in vitro and in vivo in a wide variety of living organisms. In most Duchenne muscular dystrophy (DMD) patients, expression of dystrophin (DYS) protein is disrupted because exon deletions result in a frame shift. We present here the CRISPR-induced deletion (CinDel), a new promising genome-ed...