Mutation
Antimutagenic action of the triterpene betulinic acid isolated from Scoparia dulcis (Scrophulariaceae)
Authors: P.L. de Freitas, A.C.S. Dias, V.R. Moreira, S.G. Monteiro and S.R.F. Pereira
The mutagenic and antimutagenic activities of triterpene betulinic acid {3b-3-hydroxy-lup-20(29)-en-28-oic} isolated from the roots of Scoparia dulcis (Scrophulariaceae) were analyzed using the somatic mutation and recombination test (SMART) in the wings of Drosophila melanogaster. The mutagenic potential of betulinic acid was evaluated at 3 different con.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.August.19.7
- DOI:
- 10.4238/2015.August.19.7
Mitochondrial tRNA mutations may be infrequent in hepatocellular carcinoma patients
Authors: G. Li, Y.X. Duan, X.B. Zhang and F. Wu
Mitochondrial DNA mutations have been shown to play important roles in the pathogenesis of hepatocellular carcinoma (HCC). In particular, genes encoding mitochondrial tRNA (mt-tRNA) are hotspots for pathogenic mutations associated with HCC. Recently, an increasing number of studies have reported the involvement of such mutatio.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027665
- DOI:
- 10.4238/gmr.15027665
Detection of a mutation at codon 43 of the rpsL gene in Xanthomonas oryzae pv. oryzicola and X. oryzae pv. oryzae by PCR-RFLP
Authors: Y. Zhang, X. Yang, F.Y. Zhou, A.F. Zhang, X.F. Zhu, Y. Chen, M.G. Zhou and T.C. Gao
The aim of this study was to develop a method to detect a point mutation in the ribosomal S12 protein (rpsL) gene in streptomycin-resistant strains of Xanthomonas oryzae pv. oryzicola and X. oryzae pv. oryzae. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was developed to detect a point mutation in codon 43 of th.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.28.6
- DOI:
- 10.4238/2015.December.28.6
Respiratory chain complex III deficiency in patients with tRNA-leu mutation
Authors: J. Jiang, X.L. Wang and Y.Y. Ma
The aim of this study was to investigate the clinical and genetic profiles of mitochondrial disease resulting from deficiencies in the respiratory chain complex III. Three patients, aged between 8 months and 12 years, were recruited for this study. The activities of mitochondrial respiratory chain complexes in the peripheral leucocytes were spectrophotome.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.28.12
- DOI:
- 10.4238/2015.December.28.12
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report
Authors: E. Stur, R.S. Reis, L.P. Agostini, A.M.A. Silva-Conforti and I.D. Louro
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 i.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15028251
- DOI:
- 10.4238/gmr.15028251
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration
Authors: Y.N. Zong and X.D. Kong
We investigated the genetic mutations involved in Wilson’s disease to improve prenatal genetic diagnosis and presymptomatic diagnosis. The polymerase chain reaction (PCR) was used to amplify the exons and exon-intron boundaries of the ATP7B gene in 35 Wilson’s disease pedigrees. The PCR products were further analyzed by Sanger sequencing. Pren.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.28.25
- DOI:
- 10.4238/2015.December.28.25
Splicing mutation of a gene within the Duchenne muscular dystrophy family
Authors: Y.B. Zhu, J.H. Gan, J.W. Luo, X.Y. Zheng, S.C. Wei and D. Hu
The aim of this study was to identify the mutation site and phenotype of the Duchenne muscular dystrophy (DMD) gene in a DMD family. The DMD gene is by far the largest known gene in humans. Up to 34% of the point mutations reported to date affect splice sites of the DMD gene. However, no hotspot mutation has been reported. Cap.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15028258
- DOI:
- 10.4238/gmr.15028258
Deciphering the spectrum of somatic mutations in the entire mitochondrial DNA genome
Authors: X.Z. Chen, Y. Fang, Y.H. Shi, J.H. Cui, L.Y. Li, Y.C. Xu and B. Ling
The mitochondrion is a crucial intracellular organelle responsible for regulating cellular energy metabolism, producing free radicals, initiating and executing the apoptotic pathways. Previous studies have shown that somatic mutations in mitochondrial DNA are associated with various tumors, which may be involved during carcinogenesis and tumor progression.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.30.5
- DOI:
- http://dx.doi.org/10.4238/2015.April.30.5
Salmonella enterica Typhimurium fljBA operon stability: implications regarding the origin of Salmonella enterica I 4,[5],12:i:-
Authors: M.P.O. Tomiyama, C.H. Werle, G.P. Milanez, D.B. N�³brega, J.P. Pereira, A.P. Calarga, F. Flores and M. Brocchi
Salmonella enterica subsp enterica serovar 4,5,12:i:- has been responsible for many recent Salmonella outbreaks worldwide. Several studies indicate that this serovar originated from S. enterica subsp enterica serovar Typhimurium, by the loss of the flagellar phase II gene (fljB) and adjacent sequences. However, at least two different clones of S. enterica.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.29.13
- DOI:
- 10.4238/2015.December.29.13
Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population
Authors: L. Meng, Y. Gu, X.F. Du, M.H. Shao, L.L. Zhang, G.L. Zhang and X.L. Wang
Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we examined four familial and two sporadic cases and searched for case reports.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.29.45
- DOI:
- 10.4238/2015.December.29.45