Introduction: Sodium leak channel, non-selective (NALCN) is an ion channel with important function in neuronal excitability. The activity of NALCN essential the balance rhythmic behaviors. Infantile hypotonia psychomotor retardation and characteristic facies 1 (IHPRF1), which occurs due to biallelic variants, leads dysmorphic characteristics global developmental delay. We hereby report 2 non-re...

objective autosomal recessive congenital ichthyosis (arci) is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, lamellar ichthyosis (li) and nonbullous congenital ichthyosi-formis erythroderma (ncie). lamellar ichtyosis is caused by mutations in the tgm1 gene that encodes transglutaminase 1 enzyme, which is critical for the assembly of the...

A case-control study often compares the prevalence of a specific disease among persons with normal alleles and persons with variant alleles, which generates an odds ratio (OR). The most common type of allele variation, single-nucleotide polymorphism, consists of a major allele (M) and a minor allele (m). Thus, the genotype can be a major allele homozygote (MM), a heterozygote (Mm) or a minor al...

OBJECTIVE Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance. MATERIALS & METHODS Four unrelated Iranian families with six affected...

BACKGROUND Recent studies in mice have established that an endothelial cell protein, glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1), is essential for the lipolytic processing of triglyceride-rich lipoproteins. METHODS AND RESULTS We report the discovery of a homozygous missense mutation in GPIHBP1 in a young boy with severe chylomicronemia. The muta...

PURPOSE The purpose of this study was to identify the effect of detraining on motor unit potential area (SMUP), muscular function and physical performance, according to CNTF gene polymorphism. METHODS For this study, GG (normal homozygote, n = 8) group and GA + AA (mutation heterozygote and homozygote, n = 10) group were divided by CNTF gene polymorphism and both groups were performed detrain...

This study aimed to evaluate the relationship between growth hormone (GH) gene polymorphism and estimated body weight in Harri sheep. One hundred Harri sheep lambs were used to determine the birth weight (BW) and weight at 120 days of age. The daily live-weight gain (DLWG) 0-120 days (g) was calculated. The complete CDS of the Harri sheep GH gene is 2117pb in length (GenBank acc. no. KU255857)....