Human Genetics
Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil
Authors: G.A. Molfetta, D.L. Zanette, J.E. Santos and W.A. Silva Jr
Familial hypercholesterolemia (FH) is a dominant, autosomal disease characterized by high LDL levels in blood plasma, and is caused by a defect in the gene encoding the LDL receptor (LDLR). The clinical diagnosis is based on personal and familial history, physical examination findings, and measures of high LDL cholesterol conc.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039226
- DOI:
- 10.4238/gmr16039226
MiR-200c inhibits metastasis of breast tumor via the downregulation of Foxf2
Authors: T. Zhang, J.G. Wan, J.B. Liu and M. Deng
The forkhead box F2 (Foxf2) gene suppresses epithelial-mesenchymal transition via the modulation of transcription of zinc finger E-box-binding homeobox 1 (Zeb1) and epithelial (E)-cadherin, thereby inhibiting tumor metastasis. Additionally, the specific binding of microRNA (miR)-200c to Foxf2 mRNA impedes metastatic pulmonary .. Read More»
- Genet. Mol. Res. 16(3):
- gmr16038971
- DOI:
- 10.4238/gmr16038971
Assessment of genetic diversity of a native population of Eplingiella fruticosa: a plant with therapeutic potential
Authors: D.C. Silva, L.E.C. Diniz, A.F. Blank, D.A.C. Nizio, J.A.O. Pinto, K.L.G. Pereira and M.F. Arrigoni-Blank
Eplingiella fruticosa (Salzm. ex Benth.) Harley & J.F.B. Pastore, ex Hyptis fruticosa Salzm. ex Benth. is an aromatic and medicinal plant of the family Lamiaceae, found mainly in regions with intense anthropic activity. Information on the genetic diversity of this species is scarce. However, it can be assessed using molecu.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039749
- DOI:
- 10.4238/gmr16039749
Synergic effect of oral contraceptives, GSTP1 polymorphisms, and high-risk HPV infection in development of cervical lesions
Authors: B.S. Chagas, A.P.A.D. Gurgel, S.S.L. Paiva J�ºnior, R.C.P. Lima,M.N. Cordeiro, R.R. Moura, A.V.C. Coelho, K.C.G. Nascimento,J.C. Silva Neto, S. Crovella and A.C. Freitas
Human papillomavirus (HPV) infection is considered a risk factor for cervical cancer. Even if the high-risk HPV (HR-HPV) infection is necessary, environmental co-factors and genetic susceptibility also play an important role in cervical cancer development. In this study, a possible association of rs1695 GSTP1 polymorphisms, HR.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039742
- DOI:
- 10.4238/gmr16039742
Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study
Authors: M.F. Mattos, L. Uback, P.M. Biselli-Chicote, J.M. Biselli, E.M. Goloni-Bertollo and E.C. Pavarino
Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals witho.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039738
- DOI:
- 10.4238/gmr16039738
Analysis of p53 gene polymorphism (codon 72) in symptomatic patients with atherosclerosis
Authors: M.H. Lagares, K.S.F. Silva, A.M. Barbosa, D.A. Rodrigues, I.R. Costa, J.V.M. Martins, M.P. Morais, F.L. Campedelli and K.K.V.O. Moura
Atherosclerosis is a multifactorial pathological disease that alters the morphology and function of arterial walls. The atheroma growth leads to vessel hardening and lumen narrowing, limiting the blood flow. The atheroma plaque can eventually break, expose highly thrombogenic material and lead to platelet activation and subseq.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039721
- DOI:
- 10.4238/gmr16039721
First cytotoxic, genotoxic, and antigenotoxic assessment of Euterpe oleracea fruit oil (aÃ?§aÃ?Â) in cultured human cells
Authors: E.S. Marques, M.S.F. Tsuboy, J.C.T. Carvalho, P.C.P. Rosa, F.F. Perazzo, I.O.M. Gaiv�£o and E.L. Maistro
Euterpe oleracea Mart., popularly known as “açaí”, is a tropical fruit from the Amazon region where it has considerable economic importance. Açaí has been used as food and for several medicinal purposes. Despite the widespread use of this fruit, there is a lack of data regarding the safe.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039700
- DOI:
- 10.4238/gmr16039700
miR-367 promotes uveal melanoma cell proliferation and migration by regulating PTEN
Authors: J.W. Ling, P.R. Lu, Y.B. Zhang, S. Jiang and Z.C. Zhang
We aimed to investigate the biological role of miR-367 in uveal melanoma cell growth and migration, and the underlying mechanism responsible. Quantitative real-time polymerase chain reaction was performed to evaluate miR-367 expression in uveal melanoma tissue samples and cell lines. A miR-367 mimic, miR-367 inhibitor, and neg.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039067
- DOI:
- 10.4238/gmr16039067
Correlation analysis of ADAMTS-4, VCAM-1, and TAK1 expression in cartilage tissue from spine tuberculosis
Authors: Z.X. Qiu, Z.S. Sha, X.M. Che and M.Y. Wang
A disintegrin and metalloproteinase with thrombospondin motifs 4 (ADAMTS-4) can effectively degrade articular cartilage matrix proteoglycan and damage the intervertebral disc of spinal tuberculosis patients, resulting in deterioration of the physical properties of articular cartilage. Transforming growth factor β activate.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16038961
- DOI:
- 10.4238/gmr16038961
Genetic diversity analyses of tropical goats from some countries of Middle East
Authors: R.M. Al-Atiyat
The genetic structure of 10 goat breeds from four countries of the Middle East and Horn of Africa was investigated at 17 microsatellite loci. The average allele number and richness were 9.65 and 5.78, respectively. The mean expected heterozygosity per population was 0.703, 0.715, 0.719, 0.699, 0.749, 0.719, 0.731, 0.721, 0.719.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039701
- DOI:
- 10.4238/gmr16039701