Human Genetics
Sulcus vocalis: evidence for autosomal dominant inheritance
Authors: R.H.G. Martins, T.M. Gon�§alves, D.S. Neves, T.A. Fracalossi, E.L.M. Tavares and D. Moretti-Ferreira
We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy (one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four pat.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.19.5
- DOI:
- 10.4238/2011.December.19.5
Analysis of the association between polymorphisms in the vitamin D receptor (VDR) gene and dental caries in a Chinese population
Authors: X.P. Hu, Z.Q. Li, J.Y. Zhou, Z.H. Yu, J.M. Zhang and M.L. Guo
Environmental influences on the development and progression of dental caries are well known; however, there is little evidence of a genetic component imparting susceptibility to dental caries. The aim of this study was to investigate the relationship between a single nucleotide polymorphism in the vitamin D receptor TaqI locus and dental caries susceptibi.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.28.15
- DOI:
- http://dx.doi.org/10.4238/2015.September.28.15
Correlation among RKIP expression, NF-�ºB p65 levels, and T-lymphocyte subsets in gastric cardia adenocarcinoma
Authors: H. Wei1, H.Q. Gao, H.B. Li, S.J. Qi1, W.L. Liu, L. Xu, H. Li, J.X. Liu and Z.M. Dong
The aim of this study was to characterize variations in Raf kinase inhibitor protein (RKIP) expression and related signaling molecules in gastric cardia adenocarcinoma. Cancerous and precancerous tissues were collected from patients with gastric cardia adenocarcinoma and normal tissue was collected from healthy controls. RKIP expression was detected in th.. Read More»
- Genet. Mol. Res. 14(4):
Epidemiological analysis of pneumoconiosis in the Xinjiang Uygur Autonomous Region and cases reported by the Urumqi Railway Bureau
Authors: G.T. Liu, X.J. Li, Y.H. Wei, W.L. Wei, X.H. Wang, H. Yuan and H. Wufuer
This study investigated the incidence and development of pneumoconiosis in the Xinjiang Uygur Autonomous Region and cases reported by the Urumqi Railway Bureau to provide a scientific basis for developing prevention and control measures against pneumoconiosis. Data from pneumoconiosis cases were input into Excel and analyzed by SPSS version 17.0. There we.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.6.8
- DOI:
- 10.4238/2015.March.6.8
Increased gene coverage and Alu frequency in large linkage disequilibrium blocks of the human genome
Authors: Y. Wang, P.Y. Fong, F.C.C. Leung, W. Mak and P.C. Sham
The human genome has linkage disequilibrium (LD) blocks, within which single-nucleotide polymorphisms show strong association with each other. We examined data from the International HapMap Project to define LD blocks and to detect DNA sequence features inside of them. We used permutation tests to determine the empirical signi.. Read More»
- Genet. Mol. Res. 6(4):
Sex-biased gene flow in African Americans but not in American Caucasians
Authors: Goncalves VF, Prosdocimi F, Santos LS, Ortega JM and Pena SDJ
We have previously shown evidence of strong sex-biased genetic blending in the founding and ongoing history of the Brazilian population, with the African and Amerindian contribution being highest from maternal lineages (as measured by mitochondrial DNA) and the European contribution foremost from paternal lineages (estimated f.. Read More»
- Genet. Mol. Res. 6(2):
Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches
Authors: L.B. Minasi, I.P. Pinto, J.G. de Almeida, A.V. de Melo,D.M.C. Cunha, C.L. Ribeiro, G.P. Silva, M.G. Brasil, D.M. Silva, C.C. da Silva and A.D. da Cruz
We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence i.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.6.15
- DOI:
- 10.4238/2015.March.6.15
Effects of angiotensin II intervention on MMP-2, MMP-9, TIMP-1, and collagen expression in rats with pulmonary hypertension
Authors: X.M. Wang, K. Shi, J.J. Li, T.T. Chen, Y.H. Guo, Y.L. Liu, Y.F. Yang and S. Yang
This study investigated the effects of angiotensin II (AngII) intervention, using captopril and losartan, on the expression of matrix metalloproteinase-2 (MMP-2), MMP-9, tissue inhibitor of metalloproteinase-1 (TIMP-1), and collagen in rats with pulmonary hypertension, in an effort to understand mechanisms underlying pulmonary vascular remodeling. A total.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.6.17
- DOI:
- 10.4238/2015.March.6.17
Genetic analysis of STR markers on chromosome 21 in a Han population from southeast China
Authors: Y.N. Zhu, S.M. Lu, M. Wang, F.X. Shen, Y. Chen and J.J. Hu
Short tandem repeats (STRs) are highly polymorphic sequences and have been extensively used as genetic markers in mapping studies, disease diagnosis, and human identity testing. In this study, 11 STR markers on chromosome 21, including D21S1432, D21S11, D21S1246, D21S1412, D21S1437, D21S1442, D21S2039, D21S1270, D21S1435, D21S1409, and D21S1446, were anal.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.6.18
- DOI:
- 10.4238/2015.March.6.18
Protein interaction and microRNA network analysis in osteoarthritis meniscal cells
Authors: M. Wang, C. Liu, Y. Zhang, Y. Hao, X. Zhang and Y.M. Zhang
Osteoarthritis is the most common form of arthritis among elderly adults. Herein, we performed protein-protein interaction (PPI) and miRNA network analysis to evaluate the global correlation between miRNA regulation and the PPI network in human osteoarthritis. Our results showed that desmoplakin (DSP), cystatin A (CSTA), calmodulin 1, tyrosine kinase endo.. Read More»
- Genet. Mol. Res. 12(1):
- 2013
- DOI:
- 10.4238/2013