I.D. Louro
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 Esp�?rito 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
Comparative analysis of short tandem repeat data obtained by automated and gel electrophoresis techniques
Short tandem repeats (STRs) are commonly used as genetic markers. The detection and analysis of STRs can be used to gather information on polymorphisms of interest to forensic geneticists. Denaturing polyacrylamide gel electrophoresis (PAGE) is an affordable method for the detection of minor sequence changes in DNA, while capillary electrophoresis (CE) is the gold s.. Read More»
Genet. Mol. Res. 15(3): gmr.15038436
DOI: 10.4238/gmr.15038436
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
A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta
Osteogenesis imperfecta is a heterogeneous genetic disorder characterized by bone fragility and deformity, recurrent fractures, blue sclera, short stature, and dentinogenesis imperfecta. Most cases are caused by mutations in COL1A1 and COL1A2 genes. We present a novel splicing mutation in the COL1A1 gene (c.1875+1G>C) in a 16-year-old Brazilian boy diagnosed as a.. Read More»
Genet. Mol. Res. 8(1): vol8-1gmr563
DOI: 10.4238/vol8-1gmr563
Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease
Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family with suspected diagnosis of CMT1A using .. Read More»
Genet. Mol. Res. 7(4): vol7-4gmr500
DOI: 10.4238/vol7-4gmr500
DAP1 high expression increases risk of lymph node metastases in squamous cell carcinoma of the oral cavity
Death-associated protein 1 (DAP1) is a member of the DAP family. Its expression is associated with cell growth and normal death of the neoplastic cells, regulated by the mammalian target of the rapamycin protein. Activated DAP1 negatively regulates autophagy, which has been associated with the development and progression of several diseases, such as cancer, and with prognosis and survival of di.. Read More»
Genet. Mol. Res. 14(3): http://dx.doi.org/2015.September.8.13
DOI: http://dx.doi.org/10.4238/2015.September.8.13
Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene
Osteogenesis imperfecta (OI) is a Mendelian disease with genetic heterogeneity characterized by bone fragility, recurrent fractures, blue sclerae, and short stature, caused mostly by mutations in COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I collagen, respectively. A Brazilian family that showed variable expression of autosomal dominant OI was ide.. Read More»
Genet. Mol. Res. 11(3): 2012.September.12.7
DOI: 10.4238/2012.September.12.7
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
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