OBJECTIVES To better understand the relationship between mutation of the guanosine triphosphate cyclohydrolase I (GCH1) gene and the etiology of DYT5 dystonia and to accumulate data on the mutation in the Japanese population for genetic diagnosis of the disease. SETTING Japanese population. Patients Eight Japanese patients with suspected DYT5 dystonia were analyzed. Intervention Direct genomi...

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by deletion and/or mutation of the survival motor neuron protein Gene (SMN1) that results in the expression of a truncated protein lacking the C terminal exon-7. Whereas SMN has been shown to be an important component of diverse ribonucleoprotein (RNP) complexes, its function in neurons is unknown. We hypothesize that the activ...

The present study evaluated the color vision of 44 patients with Duchenne muscular dystrophy (DMD) (mean age 14.8 years; SD 4.9) who were submitted to a battery of four different color tests: Cambridge Colour Test (CCT), Neitz Anomaloscope, Ishihara, and American Optical Hardy-Rand-Rittler (AO H-R-R). Patients were divided into two groups according to the region of deletion in the dystrophin ge...

A Japanese subject with homozygous familial hypercholesterolemia was found to have a 7.8-kilobase deletion in the gene for the low density lipoprotein receptor. The deletion joins intron 15 to the middle of exon 18, which encodes the 3' untranslated region, thereby removing all 3' splice acceptor sites distal to intron 15. By S1 nuclease mapping, we demonstrated that the 5' splice donor site of...

Naf1 (Nef-associated factor 1)/TNIP1/ABIN-1 (A20-binding inhibitor of NF-kappaB activation) is a cellular protein that interacts and cooperates with the NFkappaB inhibiting protein A20. It is reported that Naf1 attenuates epidermal growth factor (EGF)/extracellular-signal-regulated kinase2 (ERK2) nuclear signaling. Naf1 also binds to Nef, which plays a key role in acquired immunodeficiency synd...

PURPOSE KIT mutations, the most prevalent genetic event in gastrointestinal stromal tumors (GIST), are associated with malignant features and poor prognosis. Aggressive GISTs possess a high propensity to spread to the liver. This study aimed to explore the role of KIT mutations in GIST liver metastasis. EXPERIMENTAL DESIGN A total of 170 GISTs were used to determine the association between KI...

Introduction: Despite improvements in the diagnosis and treatment of lung cancer in the past two decades, it has remained the most common cause of death from cancer worldwide. Among all genes that are mutated in lung cancer, TP53 located on chromosome 17P13/1 has a significant diagnostic and prognostic value. TP53 mutations have been extensively studied in lung cancer and TP53 mutational spectr...

Maple syrup urine disease (MSUD) or branched-chain a -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 a -ketoacid dehydro...

Cutaneous squamous cell carcinoma (cSCC) is one of the most common and fastest increasing forms cancer worldwide with metastatic potential. Long non-coding RNAs (lncRNAs) are a group RNA molecules essential regulatory functions for both physiological pathological processes. In this study, we identified plasmacytoma variant translocation 1 (PVT1) as lncRNA upregulated in cSCC compared to healthy...

background: tay-sachs disease (tsd), or gm2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase a (hexa), resulting in lysosomal accumulation of gm2 ganglioside. the aim of this study was to identify the tsd-causing mutations in an iranian population. methods: in this study, we examined 31 patients for tsd-causing mu...