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...

PURPOSE In a previous study, we found a hyaluronidase 3 (HYAL3) gene mutation in exon 2 at position 188 by genome sequencing in a lung squamous cell carcinoma patient. The mutation results in substitution of serine for alanine. The aim of the study was to screen the HYAL3 gene mutation in Chinese lung squamous cell carcinoma patients and explore the correlation between mutation of HYAL3 with cl...

Dear Editor, Hydroa vacciniforme-like lymphoma (HVLL) is a disorder of childhood that is associated with Epstein–Barr virus (EBV). The characteristic clinical sign of HVLL is papulovesicular eruption and subsequent ulceration/scarring primarily on the face and upper extremities [1]. The neoplastic cells of HVLL are usually T cells and natural killer (NK) cells. Recently, increase of circulating...

Myostatin (MSTN) is a member of the transforming growth factor-β superfamily that negatively regulates skeletal muscle development and growth. In the present study, partial genomic fragments of MSTN were screened for single nucleotide polymorphisms (SNPs) in selected common carp individuals from wild populations, and two SNPs in intron 2 (c.371 + 749A > G, c.371 + 781T > C) and two synonymous S...

background: gastrointestinal stromal tumor (gist) is the most common mesenchymal neoplasm of the gastrointestinal tract. they are believed to originate from the interstitial cells of cajal. most of these tumors contain activating mutations in the kit receptor tyrosine kinase. this is the first study in iran to evaluate gists at the molecular level. methods: in the present study, during 5 years ...

OBJECTIVE To test for PTPN11 mutations in clinically diagnosed cases of Noonan syndrome. METHODS 17 individuals with clinical diagnosis of Noonan syndrome were included in the study. Sanger sequencing of all the 15 exons of PTPN11 was done. A genotype-phenotype correlation was attempted. RESULTS Mutation in PTPN11 was detected in 11 out of 17 (64.7%) patients with Noonan syndrome; 72% had m...

Molecular information using gene variants could support livestock selection to improve productivity. This study aimed identify the in part of MSTN (part third exoncoding region), a known for its significant effect on muscle growth. DNA was isolated from 95 Madura cattle blood samples collected Pamekasan, Madura. PCR used amplify region exon, and one-way sequencing conducted obtain thesequence a...