E. Stur
SETD5 gene variant associated with mild intellectual disability - a case report
The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself in a large spectrum of intensity, in some.. Read More»
Genet. Mol. Res. 16(2): gmr16029615
DOI: 10.4238/gmr16029615
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report
Table of Contents | Genet. Mol. Res. 2016 (2) Research Article Effect of uric acid on mitochondrial function and oxidative stress in hepatocytes Authors: Y. Yang Y. Zhou S. Cheng J.L. Sun H. Yao L. Ma Here, we investigated the effect of uric acid (UA) on hepatocyte mitochondria. Hepatocytes cultured in vitro were treated with varying concen.. Read More»
Genet. Mol. Res. 15(2): gmr.15028251
DOI: 10.4238/gmr.15028251
Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of EspÃ?Ârito Santo, Brazil
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the dise.. Read More»
Genet. Mol. Res. 15(2): gmr.15028189
DOI: 10.4238/gmr.15028189
Ã?Â?F508 mutation screening of healthy individuals from two populations in EspÃ?Ârito Santo State, Brazil
The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency have been recorded across different areas of Brazil. This study aimed to compare the distribution of ΔF508 among healthy individuals of admixed Portuguese descent from Espírito Santo (ES), a st.. Read More»
Genet. Mol. Res. 15(4): gmr15049387
DOI: 10.4238/gmr15049387
MTHFR C677T and A1298C polymorphisms as predictors of radiotherapy response in head and neck squamous cell
The C677T and A1298C polymorphisms in methylenetetrahydrofolate reductase (MTHFR), which regulates the release of active folate in the body, may have reduced activity. Given that folate participates in important intracellular pathways, such as nucleotide synthesis and biomolecule methylation, it seems plausible that patients with head and neck squamous cell carcinoma (HNSCC) may respond differe.. Read More»
Genet. Mol. Res. 14(4): 2015.October.26.6
DOI: 10.4238/2015.October.26.6
Prognostic significance of head and neck squamous cell carcinoma repair gene polymorphism
The aims of this study were to analyze the polymorphisms XRCC1 Arg194Trp, XRCC1 Arg399Gln, XRCC3 Thr241Met, XPC Lys939Gln, ERCC1 Asn118Asn, and RAD51 -98G>C and to verify their influence on radiotherapy response and prognosis of patients with head and neck squamous cell carcinoma (HNSCC). Peripheral blood DNA was extracted from 311 patients and analyzed by PCR-RF.. Read More»
Genet. Mol. Res. 14(4): 2015.October.16.11
DOI: 10.4238/2015.October.16.11
Keratins 17 and 19 expression as prognostic markers in oral squamous cell carcinoma
Five-year survival rates for oral squamous cell carcinoma (OSCC) are 30% and the mortality rate is 50%. Immunohistochemistry panels are used to evaluate proliferation, vascularization, apoptosis, HPV infection, and keratin expression, which are important markers of malignant progression. Keratins are a family of intermediate filaments predominantly expressed in epit.. Read More»
Genet. Mol. Res. 14(4): 2015.November.24.21
DOI: 10.4238/2015.November.24.21
FAS ligand expression in inflammatory infiltrate lymphoid cells as a prognostic marker in oral squamous cell carcinoma
Currently, the most important prognostic factor in oral squamous cell carcinoma (OSCC) is the presence of regional lymph node metastases, which correlates with a 50% reduction in life expectancy. We have previously observed that expression of hypoxia genes in the tumor inflammatory infiltrate is statistically related to prognosis in OSCC. FAS and FASL expression levels in OSCC havepreviously be.. Read More»
Genet. Mol. Res. 14(3): http://dx.doi.org/2015.September.22.8
DOI: http://dx.doi.org/10.4238/2015.September.22.8
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