Human Genetics
Production of human factor VIII-FL in 293T cells using the bicistronic MGMT(P140K)-retroviral vector
Authors: A.M. Fontes, F.U.F. Melo, L.J. Greene, V.M. Fa�§a, Y. Lin, S.L. Gerson and D.T. Covas
Hemophilia A is the most common X-linked bleeding disorder; it is caused by deficiency of coagulation factor VIII (FVIII). Replacement therapy with rFVIII produced from human cell line is a major goal for treating hemophilia patients. We prepared a full-length recombinant FVIII (FVIII-FL), using the pMFG-P140K retroviral vecto.. Read More»
- Genet. Mol. Res. 11(1):
- 2012.March.22.8
- DOI:
- 10.4238/2012.March.22.8
Downregulation of microRNA-630 inhibits cell proliferation and invasion and enhances chemosensitivity in human ovarian carcinoma
Authors: Y.T. Zou, J.Y. Gao, H.L. Wang, Y. Wang, H. Wang and P.L. Li
MicroRNAs (miRNAs) are a family of small non-coding RNAs (approximately 21-23 nt long) that can target genes for either degradation of mRNA or inhibition of translation. miRNAs have not been comprehensively studied in human epithelial ovarian carcinoma (EOC). MicroRNA-630 (miR-630) has been frequently observed to be aberrantly expressed in various types o.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.July.31.25
- DOI:
- 10.4238/2015.July.31.25
Sequence variants in the bovine PRDM16 gene associated with body weight in Chinese cattle breeds
Authors: J. Wang, C. Wang, R. Tian, Y.-Z. Huang, X.-S. Lai, X.-Y. Lan, J.-Q. Wang and H. Chen
As a zinc-finger protein, PR domain containing 16 (PRDM16) controls brown fat determination by stimulating brown fat cell production while suppressing the expression of genes for production of white fat cells; mutations in this domain are associated with myelodysplastic syndrome and leukemogenesis. In our study, polymorphisms .. Read More»
- Genet. Mol. Res. 11(1):
- 2012.March.22.5
- DOI:
- 10.4238/2012.March.22.5
Association between TNFSF4 tagSNPs and myocardial infarction in a Chinese Han population
Authors: J. Cheng, J.-M. Cen, M.-Y. Cai, S. Xu, L. Li, Z.-C. Li, X.-L. Yang, C. Chen, X. Liu and X.-D. Xiong
Tumor necrosis factor superfamily member 4 (TNFSF4) plays an important role in atherosclerosis development. However, the biological significance of TNFSF4 variants on myocardial infarction (MI) pathogenesis remains poorly understood. We investigated the influence of 5 TNFSF4 tagging single nucleotide polymorphisms (rs3861950, rs17346501, rs7518045, rs1234.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.June.8.11
- DOI:
- 10.4238/2015.June.8.11
BDNF and DARPP-32 genes are not risk factors for schizophrenia in the Malay population
Authors: H.C. Loh, P.Y. Tang, S.F. Tee, T.J. Chow, Y.C. Cheah and S.S.J. Singh
A number of studies have pointed to the association of BDNF (brain-derived neurotrophic factor) and DARPP-32 (dopamine- and cAMP-regulated phosphoprotein, 32 kDa) with schizophrenia. The purpose of this study was to determine whether these two genes are involved in the pathogenesis of schizophrenia in the Malay population. Two.. Read More»
- Genet. Mol. Res. 11(1):
- 2012.March.22.2
- DOI:
- 10.4238/2012.March.22.2
Genetic polymorphisms in extracellular superoxide dismutase Leu53Leu, Arg213Gly, and Ala40Thr and susceptibility to type 2 diabetes mellitus
Authors: Y.M. Yang, X.R. Xie and A.L. Jin
The most common type of endocrine disease is type 2 diabetes mellitus (T2DM); genetic factors contribute to the development to T2DM. In this study, we investigated the role of the Leu53Leu, Arg213Gly, and Ala40Thr polymorphisms in extracellular superoxide dismutase (EC-SOD) gene in the development of T2DM in a Chinese populati.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048418
- DOI:
- 10.4238/gmr15048418
Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study
Authors: N.M. Cadenas-Benitez, F. Yanes-Sosa, A. Gonzalez-Meneses,L. Cerrillos, D. Acosta, J.M. Praena-Fernandez, O. Neth,I. Gomez de Terreros, and P. Ybot-Gonz�¡lez
Abnormalities in maternal folate and carbohydratemetabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bí.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.March.26.8
- DOI:
- 10.4238/2014.March.26.8
Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family
Authors: B.K. Li, Q. Ding, X.D. Wan and X. Wang
We studied a family with two cousins who were diagnosed with complete androgen insensitivity syndrome, an X-linked disorder caused by mutations in the androgen receptor gene. A pedigree analysis and a molecular study using PCR and DNA sequencing clarified each female family member’s androgen receptor status and revealed .. Read More»
- Genet. Mol. Res. 10(2):
- vol10-2gmr1130
- DOI:
- 10.4238/vol10-2gmr1130
Zinc finger protein A20 overexpression inhibits monocyte homing and protects endothelial cells from injury induced by high glucose
Authors: C.L. Hou, W. Zhang, Y. Wei, J.H. Mi, L. Li, Z.H. Zhou, W. Zeng and D.J. Ying
Diabetes mellitus causes vascular lesions and may ultimately lead to atherosclerosis. One of the earliest steps in the development of atherosclerotic lesions is the adhesion of monocytes to endothelial cells of the vessel wall. It is currently unknown whether zinc finger protein A20 is able to protect endothelial cells from in.. Read More»
- Genet. Mol. Res. 10(2):
- vol10-2gmr1102
- DOI:
- 10.4238/vol10-2gmr1102
Association between BMP-2 and COL6A1 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the cervical spine in Korean patients and family members
Authors: K.H. Kim, S.U. Kuh, J.Y. Park, S.J. Lee, H.S. Park, D.K. Chin, K.S. Kim and Y.E. Cho
COL6A1 and BMP-2 genes have been implicated in ossification of the posterior longitudinal ligament (OPLL) susceptibility in Japanese and Chinese Han populations. However, no study has yet investigated the DNA of unaffected family members of patients with OPLL. This study investigated differences in genetic polymorphisms of BMP.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.March.31.4
- DOI:
- 10.4238/2014.March.31.4