Mutation
Synonymous codon selection in the hepatitis B virus translation initiation region
Authors: M.-R. Ma, L. Hui, M.-L. Wang, Y. Tang, Y.-W. Chang, Q.-H. Jia, X.-P. Yang, X.-H. Wang and X.-Q. Ha
Hepatitis B virus (HBV) infection is a major health problem worldwide. This virus and its hosts are often fated to continual co-evolutionary interactions. Codon usage analysis has significance for studies of co-evolution between viruses, their hosts, and mRNA translation. Adaptation of the overall codon usage pattern of HBV to that of humans is estimated .. Read More»
- Genet. Mol. Res. 14(3):
- 2015.August.7.4
- DOI:
- 10.4238/2015.August.7.4
Molecular characterization of a Han Chinese family with essential hypertension
Authors: J.F. Zhu, X. Zhang and L. Ling
Mutations in the mitochondrial genome have been found to be associated with essential hypertension. Here, we report the clinical and molecular characterization of a three-generation Han Chinese family with maternally inherited hypertension. Most strikingly, this pedigree exhibited a high penetrance of hypertension. Sequence an.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15028084
- DOI:
- 10.4238/gmr.15028084
Analysis of regulatory mechanism after ErbB4 gene mutation based on local modeling methodology
Authors: C.L. Chen and J.W. Zhao
ErbB4 is an oncogene belonging to the epidermal growth factor receptor family and contributes to the occurrence and development of multiple cancers, such as gastric, breast, and colorectal cancers. Therefore, studies of the regulation of ErbB4 in cancerigenic pathway will advance molecular targeted therapy. Advanced bioinforma.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15028647
- DOI:
- 10.4238/gmr.15028647
Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children
Authors: G.-X. Wang, D.-W. Wang, C.-Y. Yi, J.-S. Qu and Y.-L. Wang
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder characterized by hamartomas in multiple organs and is caused by a wide spectrum of mutations in 1 of 2 causative genes (TSC1 or TSC2). Here, we present mutational analyses of the TSC1 and TSC2 genes in 4 cases of TSC in Chinese Han children, including 2 familial and 2 sporadic.. Read More»
- Genet. Mol. Res. 12(2):
- 2013.April.12.3
- DOI:
- 10.4238/2013.April.12.3
Analysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia
Authors: X.H. Guo, Y.F. Sun, M. Cui1, J.B. Wang, S.Z. Han and J. Miao
This study was carried out to analyze uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1) gene mutations in neonates with unconjugated hyperbilirubinemia, from two different ethnic groups. Polymerase chain reaction and gene sequencing were used to analyze the differences in genotypes and allele frequencies of differ.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15028373
- DOI:
- 10.4238/gmr.15028373
Mutation profile of KRAS and BRAF genes in patients with colorectal cancer: association with morphological and prognostic criteria
Authors: M. Samara, K. Kapatou, M. Ioannou, Ã?Â?. Kostopoulou, R. Papamichali, C. Papandreou, A. Athanasiadis and G. Koukoulis
KRAS and BRAF mutations are well-recognized molecular alterations during colorectal carcinogenesis, but there is little agreement on their effect on tumor characteristics. Therefore, we aimed to evaluate the distribution of the most common KRAS and BRAF mutations in Greek patients with colorectal cancer and their possible associations with clinical histop.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.14.6
- DOI:
- 10.4238/2015.December.14.6
Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa
Authors: M.F. Haddad, O.F. Khabour, K.A.Y. Abuzaideh and W. Shihadeh
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disease causing progressive degeneration of retinal photoreceptor cells. X-linked RP (XLRP), in which photoreceptor degeneration begins in early childhood and complete blindness often occurs by the fourth decade of life, constitutes the most severe form of.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027842
- DOI:
- 10.4238/gmr.15027842
Genetic diversity in mutated and non-mutated rice varieties
Authors: M. Naeem, F. Ghouri, M.Q. Shahid, M. Iqbal, F. S. Baloch, L. Chen, S. Allah, M. Babar and M. Rana
We studied the genetic variability due to mutation induced by γ-rays (10, 15, and 20 Kr) on various traits of twelve rice genotypes. Mutated and non-mutated seeds were sown in the field between July 2013 and 2014 using a split plot design. Yield and yield-related trait data was recorded, which showed significant (P < 0.05) genotypic and irradiati.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.16.11
- DOI:
- 10.4238/2015.December.16.11
R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature
Authors: L.M. Borges and F.M. Ayres
The germline R337H mutation of the TP53 gene has been associated with the development of many tumor types. This systematic review of literature investigated the association between the R337H mutation and the patients’ family history and its predictive and prognostic value in cancer. Data were collected from articles archived in the PubMed, LILACS, M.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.16.4
- DOI:
- 10.4238/2015.December.16.4
Analysis of the beta-globin gene in DNA of suspected thalassemic great apes
Authors: J. Vuch, M.S. Siori, M.P. Bigatti, L. Segat, G. De Fabrizio and S. Crovella
DNA was recovered from teeth of 2 great ape skeletons, Pan troglodytes (Ptr) and Pongo pygmaeus (Ppy), belonging to a 19th-century zoological collection. The skeletons presented morphological alterations possibly associated with β-thalassemia: Ptr had deformation of the calvaria and oro-maxillo-facial bones with porotic hyperostosis and extend.. Read More»
- Genet. Mol. Res. 12(2):
- 2013.May.21.4
- DOI:
- 10.4238/2013.May.21.4