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Human Genetics   Research Article

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
Human Genetics   Research Article

Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease

Authors: Y. Lv, L.H. Cao2, H. Pang, L.N. Lu, J.L. Li, Y. Fu, S.L. Qi4, Y. Luo and J. Li-Ling

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder characterized by nystagmus, impaired motor development, ataxia, and progressive spasticity. Genetically defective or altered levels of proteolipid protein (PLP1) or gap-junction alpha protein 12 gene have been found to be a common cause. Here we report on.. Read More»

Genet. Mol. Res. 11(3):
2012.August.6.7
DOI:
10.4238/2012.August.6.7
Plant Genetics   Research Article

Diversity of propanil-degrading bacteria isolated from rice rhizosphere and their potential for plant growth promotion

Authors: A.R.L. Proc�³pio, R.E.L. Proc�³pio, A.A. Pizzirani-Kleiner and I.S. Melo

The herbicide propanil has long been used in rice production in southern Brazil. Bacteria isolated from contaminated soils in Massaranduba, Santa Catarina, Brazil, were found to be able to grow in the presence of propanil, using this compound as a carbon source. Thirty strains were identified as Pseudomonas (86.7%), Serratia (.. Read More»

Genet. Mol. Res. 11(3):
2012.August.6.6
DOI:
10.4238/2012.August.6.6
Animal Genetics   Research Article

Development and characterization of microsatellite markers for the Chinese endangered medicinal plant Tetrastigma hemsleyanum

Authors: Y.H. Wang, N. Chen, Y.C. Zhang and C.X. Fu

Tetrastigma hemsleyanum (Vitaceae) is an endangered medicinal plant endemic to China. Because of its widely known efficacy for treating many health problems, wild resources of this species are currently undergoing a rapid decline. Few studies have been conducted examining the population genetics or development of microsatellite loci for this plant. In thi.. Read More»

Genet. Mol. Res. 13(4):
2014.October.31.21
DOI:
10.4238/2014.October.31.21
Human Genetics   Research Article

Breeding biofortified cowpea lines for semi-arid tropical areas by combining higher seed protein and mineral levels

Authors: C.A.F. Santos and L.S. Boiteux

One strategy to mitigate human malnutrition in semi-arid areas is to increase the protein and mineral content of cowpea cultivars. Total seed protein, potassium, calcium, iron, zinc, and sodium contents were quantified in elite cowpea lines, with the aim to develop cultivars that had improved levels of these nutrients. Eighty-seven F6 lines derived from 6.. Read More»

Genet. Mol. Res. 12(4):
2013.December.16.4
DOI:
10.4238/2013.December.16.4
Human Genetics   Research Article

Frequencies of -308G/A (TNFA) and -509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil

Authors: L.S. Torres, E. Belini Junior, D.G. Silva, C.L. Lobo, M.A. Ruiz and C.R. Bonini-Domingos

Sickle cell anemia is an affection that causes chronic inflammation, with consequences for vaso-occlusion, oxidative stress and cytokine production. Genetic polymorphisms in markers involved in this process can modulate the inflammatory response, including polymorphisms -308G/A of TNFA (tumor necrosis factor alpha) and -509C/T of TGFB1 (transforming growt.. Read More»

Genet. Mol. Res. 12(4):
2013.December.16.1
DOI:
10.4238/2013.December.16.1
Human Genetics   Research Article

Developmental characteristics of pectoralis muscle in Pekin duck embryos

Authors: L.H. Gu, T.S. Xu, W. Huang, M. Xie, W.B. Shi, S.D. Sun and S.S. Hou

To confirm the entire developmental process and transition point of embryonic Pekin duck pectoral muscle, and to investigate the association between pectoral muscle development and their regulating genes, anatomical and morphological analyses of embryonic Pekin duck skeletal muscles were performed, and the expression patterns of its regulating genes were .. Read More»

Genet. Mol. Res. 12(4):
2013.December.13.6
DOI:
10.4238/2013.December.13.6
Human Genetics   Research Article

Structure, function, and localization of aquaporins: their possible implications on gamete cryopreservation

Authors: A.D. Sales, C.H. Lobo, A.A. Carvalho, A.A. Moura and A.P.R. Rodrigues

The discovery of water channels (aquaporins, AQPs) was a landmark event for the clarification of water transport through the plasma membrane. AQPs belong to a family of intrinsic membrane proteins that act as selective channels for water and for solutes such as glycerol and urea. AQPs were found in different tissues and organs, including male and female r.. Read More»

Genet. Mol. Res. 12(4):
2013.December.13.5
DOI:
10.4238/2013.December.13.5
Human Genetics   Research Article

RXR agonists inhibit high glucose-induced upregulation of inflammation by suppressing activation of the NADPH oxidase-nuclear factor-�ºB pathway in human endothelial cells

Authors: R.B. Ning, J. Zhu, D.J. Chai, C.S. Xu, H. Xie, X.Y. Lin, J.Z. Zeng and J.X. Lin

An inflammatory response induced by high glucose is a cause of endothelial dysfunction in diabetes and is an important contributing link to atherosclerosis. Diabetes is an independent risk factor of atherosclerosis and activation of retinoid X receptor (RXR) has been shown to exert anti-atherogenic effects. In the present study, we examined the effects of.. Read More»

Genet. Mol. Res. 12(4):
2013.December.13.3
DOI:
10.4238/2013.December.13.3
Medical Genetics   Research Article

High resolution computed tomography and classification of children with interstitial lung diseases

Authors: M.L. He, H. Lai, Y. Cao, Y.Z. Shuai and S.C. Yu

High resolution computed tomography (HRCT) was used to classify children with interstitial lung diseases (ILD). Sixty children with ILD underwent HRCT in supine position under free-respiratory conditions during scanning. Children under 5 years old were sedated with chloral hydrate and the scanning scope was from the lung apex .. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.9.9
DOI:
http://dx.doi.org/10.4238/2014.June.9.9