Mutation
Analysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome
Authors: L.B. Queiroz, B.D. Lima, J.F. Mazzeu, R. Camargo, M.S. C�³rdoba, I.Q. Magalh�£es, C. Martins-de-S�¡ and I. Ferrari
It has been reported that patients with Down syndrome (DS) frequently develop transient myeloproliferative disorder (TMD) and less commonly myeloid leukemia in DS (ML-DS). We examined the pathogenetic relationship of these conditions with somatic mutations of the GATA1 gene in children with both TMD and ML-DS. To determine the incidence of GATA1 mutations.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.October.18.1
- DOI:
- 10.4238/2013.October.18.1
Associations between clinical characteristics and oncogene expression in patients with non-small cell lung cancer
Authors: Y. Han, D.P. Yu, S.J. Zhou, X.Y. Song, Y.S. Li, N. Xiao, Z.D. Liu, X.J. Sun, Q.Y. Zhao and S.K. Liu.
More than 40 oncogenes associated with non-small cell lung cancer (NSCLC) have been identified with varied gene expression. The correlations between specific clinical characteristics and oncogene expression in NSCLC patients were examined. From October 2011 to September 2012, a total of 60 patients with NSCLC (male:female, 34:24; mean age, 59.5 ± 1.. Read More»
- Genet. Mol. Res. 13(4):
RUNX2 mutations in cleidocranial dysplasia
Authors: K.-E. Lee1, F. Seymen2, J. Ko1, M. Yildirim2, E.B. Tuna2, K. Gencay2 and J.-W. Kim1,3
The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal dominant skeletal dysplasia that is characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavic.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.October.15.5
- DOI:
- 10.4238/2013.October.15.5
Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system
Authors: A.G. Zamani, A. Acar and M.S. Yildirim
The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics ce.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.October.29.9
- DOI:
- 10.4238/2013.October.29.9
Polymorphism of SREBP1 is associated with beef fatty acid composition in Simmental bulls
Authors: L. Xu*, L.P. Zhang*, Z.R. Yuan, L.P. Guo, M. Zhu, X. Gao, H.J. Gao, J.Y. Li and S.Z. Xu
The sterol regulatory element binding factor 1 gene (SREBP1) plays an important role in the biosynthesis of fatty acids and cholesterol, and in lipid metabolism. The objective of this study was to investigate the effect of genetic polymorphisms of SREBP1 on the fatty acid composition of muscle and carcass traits in Simmental bulls and Snow Dragon black ca.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.November.22.7
- DOI:
- 10.4238/2013.November.22.7
Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia
Authors: P.C. Lee, H.H. Lam, S.A. Ghani, V. Subrayan and K.H. Chua
Mutations in the PAX6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population. Therefore, the objective of this study was to investigate the PAX6 mutation in a Malaysian family with congenital aniridia. In this study, a complete ophthalmic examination was performed on a Dusun et.. Read More»
- Genet. Mol. Res. 13(2):
- 2014.March.24.15
- DOI:
- 10.4238/2014.March.24.15
Complete sequence analysis of mitochondrial DNA of aplastic anemia patients
Authors: X. Cui, F. Liu, J.Q. Wang, W.J. Zhang, J.Y. Wang, K. Liu, S.Y. Cui, J. Zhang and R.R. Xu
This study was primarily undertaken to test the hypothesis that mitochondrial DNA (mtDNA) mutations may be associated with aplastic anemia (AA). We analyzed mtDNA sequences from 15 patients with AA. The samples were obtained from bone marrow, and patients’ oral epithelial cells were collected for normal tissue comparison. Total DNA was amplified by .. Read More»
- Genet. Mol. Res. 11(3):
- 2012.August.6.16
- DOI:
- 10.4238/2012.August.6.16
Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis
Authors: M. Li, J.Y. Liang, Z.H. Sun, H. Zhang and Z.R. Yao
Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is a rare autosomal recessive disorder characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, and mental retardation. It is caused by mutations in the gene coding for neurotrophic tyrosine kinase receptor type 1 (NTRK1; MIM# 191315). We screened .. Read More»
- Genet. Mol. Res. 11(3):
- 2012.May.18.8
- DOI:
- 10.4238/2012.May.18.8
Study of PIK3CA, BRAF, and KRAS mutations in breast carcinomas among Chinese women in Qinghai
Authors: Y.L. Wang, X. Dai, Y.D. Li, R.X. Cheng, B. Deng, X.X. Geng and H.J. Zhang
Phosphatidylinositol-3-OH kinase and RAS-activated signaling pathways play an important role in tumor formation. Abnormalities in relevant genes play essential roles in the occurrence and development of many human cancers. Studies of breast cancer have mainly focused on the women in western countries, but few studies have exam.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.18.49
- DOI:
- 10.4238/2015.November.18.49
In vitro induction of tetraploid garlic with trifluralin
Authors: Z.-H. Cheng, X.-J. Zhou, M.A. Khan, L. Su and H.-W. Meng
Garlic (Allium sativum) is propagated asexually. Since sexual cross breeding is almost impossible, means for effective breeding are not currently available and the available production cultivars are seriously aged and degenerated. A possible alternative for breeding is chemical induction. Trifluralin, a type of herbicide, has been reported to provoke chro.. Read More»
- Genet. Mol. Res. 11(3):
- 2012.July.10.13
- DOI:
- 10.4238/2012.July.10.13