Objectives: This clinical research aimed to establish autologous fibroblasts transplantation as a possible treatment for patients with DEJ. The COL7A1 gene expression was also evaluated.
 Methods: Six (3M and 3F), 4 no recurrent wounds 2 after surgery, 15 healthy subjects were included in the study controls. Quantitative real-time polymerase chain reaction (real-time PCR) analysis of perfo...

Amelogenin, the major enamel matrix protein in tooth development, has been demonstrated to play a significant role in tooth enamel formation. Previous studies have identified the alternative splicing of amelogenin in many mammalian vertebrates as one mechanism for amelogenin heterogeneous expression in teeth. While amelogenin and its splicing forms in mammalian vertebrates have been cloned and ...

diacylglycerol acyltransferase1 (dgat1) is a key enzyme in synthesis of triglycerides. a transition mutation resulting substitution of guanine by adenine in dgat1 gene and substitution of lysine by alanine in diacylglycerol-acyltransferase enzyme in cattle has a major effect on milk yield and milk composition traits. in this research, the polymorphism of the region spanning exon 3 to exon 17 of...

This study investigated the atopic march on basis of genetics. research detected 227 variants in filaggrin gene (FLG gene). Missense, silent, non-sense, frame-shift and non-coding mutations were exon 3 FLG patients with bronchial asthma, dermatitis, allergic rhinitis mixed atopy. Missense mutation was at c.8343 G > C (p. Asp2781Glu) all adult asthmatic patients. Whereas, c.8360 T/A Arg2787 His/...

The mouse c-src gene contains a short neuron-specific exon, N1. To characterize the sequences that regulate N1 splicing, we used a heterologous gene, derived from the human beta-globin gene, containing a short internal exon that is usually skipped by the splicing machinery. Various fragments from the src gene were inserted into the globin substrate to measure their effects on the splicing of th...

Recently we have isolated the genomic clones of rat cytochrome c oxidase subunit IV and determined the structural organization of the gene (1). Here we report the complete nucleotide sequence of the gene encoding rat cytochrome c oxidase subunit IV for the record. The rat cytochrome c oxidase subunit IV gene is composed of 6,106 nucleotides and is organized in five exons (exon 1; 44 bp, exon 2;...

introduction: autosomal dominant polycystic kidney disease (adpkd) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. adpkd is genetically heterogeneous with two genes identified: pkd1 (16p13.3, 46 exons) and pkd2 (4q21, 15 exons). eighty five percent of the patients with adpkd have at least one mutation in the pkd1 gene. genetic studies have demonstrate...

A non-small-cell-lung-cancer patient with cerebral metastasis presenting an atypical exon 20 mutation in the EGFR gene had a long-lasting tumor cotrol on mulimodal treatment osimertinib and stereotaxic radiotherapy oligoprogressing lesions. Most exon-20 mutations are resistant to first, second third generation EGFR-directed TKI. This case was discussed our molecular tumour board. As more specif...

AIM Presentation of a prenatally diagnosed case of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy. METHODS DNA obtained from cultivated amniocytes was analyzed for deletions in the survival motor neuron gene and neuronal apoptosis inhibitory protein gene. RESULTS The fetus was diagnosed as an affected homozygote for deletions in exon 7 and exon 8 of the survival m...

Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This ...