Mutations
Hereditary hemochromatosis in a Brazilian university hospital in S�£o Paulo State (1990-2000)
Authors: Ana L.C. Martinelli, Rui Filho, Samantha Cruz, Rendrik Franco,Marli Tavella, Marie Secaf, Leandra Ramalho, Sergio Zucoloto, Sandra Rodrigues and Marcos Zago
Hereditary hemochromatosis (HH) is the most common genetic disease among individuals of European descent. Two mutations (845G→A, C282Y and 187C→G, H63D) in the hemochromatosis gene (HFE gene) are associated with HH. About 85-90% of patients of northern European descent with HH are C282Y homozygous. The prevalence of .. Read More»
- Genet. Mol. Res. 4(1):
Sequence analysis of the regulatory region of the TNF-RII gene in Polish Holstein-Friesian cows
Authors: A. Stachura, E. Kaczmarczyk and B. BojarojÃ?Â?-Nosowicz
Tumor necrosis factor receptor type II (TNF-RII) is a surface glycoprotein that can form a complex with TNF-α and participate in the body’s immune response. Functions of TNF-RII are impaired in the pathogenesis of viral diseases. We analyzed sequences in the regulatory region of the TNF-RII gene in cattle. An attempt was also made to identify .. Read More»
- Genet. Mol. Res. 12(2):
- 2013.April.2.19
- DOI:
- 10.4238/2013.April.2.19
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
New compound heterozygous mutations of p. Thr101Ilefs*2 and p. Thr306Ale in a child from a Chinese family with 17�±-hydroxylase/17, 20-lyase deficiency
Authors: H. Xiao, H. Zhang, T. Li, D. Wu, L.T. Qin, T. Wang, B. Zhang and S.X. Liao
We determined whether a child with 17a-hydroxylase/17, 20-lyase deficiency possessed the sex-determining region (SRY) gene, and examined the mutations present in the CYP17A1 gene that led to 17a-hydroxylase/17, 20-lyase deficiency. In the child, karyotype analysis was performed and polymerase chain reaction analysis and electrophoretic techniques were use.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.August.10.12
- DOI:
- 10.4238/2015.August.10.12
Mitochondrial transfer RNA mutations and hypertension
Authors: S.L. Yin, C. Lan, H. Pei, and Z.Q. Zhu
Mutations in mitochondrial DNA have been found to be associated with hypertension. Of these, mitochondrial transfer RNA (mt-tRNA) is a hot spot for these pathogenic mutations. It is generally believed that these mutations may result in the failure of mt-tRNA metabolism, thereby worsening mitochondrial dysfunction and resulting in hypertension. mt-tRNA is .. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.21.42
- DOI:
- 10.4238/2015.December.21.42
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
Cystic fibrosis in Uruguay
Authors: Gerardo Luzardo, Isabel Aznarez, Beatriz Crispino, Adriana Mimbacas, Liria MartÃ?Ânez, Rossana Poggio, Julian Zielenski, Lap-Chee Tsui and Horacio Cardoso
We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electroly.. Read More»
- Genet. Mol. Res. 1(1):