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Human Genetics

Human Genetics   Research Article

Impact and significance of EGCG on Smad, ERK, and ?²-catenin pathways in transdifferentiation of renal tubular epithelial cells

Authors: C.G. Zhao, P. Zhou and Y.B. Wu

We investigated the impact and signal transduction mechanisms of epigallocatechin-3-gallate (EGCG) on transdiffer-entiation of renal tubular epithelial cells. Rat renal tubular epithelial cells (NRK-52E) were randomly divided into a normal control group, transforming growth factor (TGF)-b1-induced group (10 ng/mL), and intervention groups with 200 mg/L EG.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.30.14
DOI:
http://dx.doi.org/10.4238/2015.March.30.14
Human Genetics   Research Article

Effect of casein genes - beta-LGB, DGAT1, GH, and LHR - on milk production and milk composition traits in crossbred Holsteins

Authors: A. Molee, C. Poompramun and P. Mernkrathoke

The objectives of this study were to determine the effects of a single gene and composite genotype of the casein gene family, including the beta-lactoglobulin gene (beta-LGB), acyl-CoA: diacylglycerol acyltransferase 1 gene (DGAT1), growth hormone gene (GH), and luteinizing hormone receptor gene (LHR) on milk yield, milk composition, the percentage of fat.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.30.15
DOI:
http://dx.doi.org/10.4238/2015.March.30.15
Human Genetics   Research Article

Expression and localization of cFLIP anti-apoptotic protein in the porcine corpus luteum and corpora albicans during the estrous cycle and pregnancy

Authors: H.Z. Jin, W.S. Shi, Y. Tian, Y. Liu, Y. Jin and N. Manabe

We determined expression and localization of the anti-apoptotic cellular FLICE inhibitory protein (cFLIP) in the porcine corpora lutea (CL) and corpus albicans (CA) during estrous and pregnancy. The CL and CA were collected at different stages of estrous to determine cFLIP immunolocalization, and mRNA and protein expression. The mRNA expression of the sho.. Read More»

Genet. Mol. Res. 14(3):
2015.July.27.14
DOI:
10.4238/2015.July.27.14
Human Genetics   Research Article

Single nucleotide polymorphisms in the ORM1-like 3 gene associated with childhood asthma in a Chinese population

Authors: F.F. Yang Y. Huang Q.B. Li J.H. Dai Z. Fu

Single nucleotide polymorphism (SNP)-based genome-wide association studies have revealed that polymorphisms of the ORM1-like 3 (ORMDL3) gene are associated with childhood asthma. We investigated genetic associations of SNPs in and around the ORMDL3 gene with childhood asthma in a Chinese population. Genomic DNA was extracted f.. Read More»

Genet. Mol. Res. 11(4):
2012.October.19.1
DOI:
10.4238/2012.October.19.1
Human Genetics   Research Article

Characterization of NF1 frameshift mutations in pediatric patients with neurofibromatosis type I

Authors: J. Villa-Morales, E. L?³pez-Mu?±oz, D. Ju?¡rez-Melchor, N. Garc?­a-Hern?¡ndez, F. Minauro-Sanmiguel, J. Aguirre-Hern?¡ndez, G. Guti?©rrez-Iglesias and D.J. Arenas-Aranda

Neurofibromatosis type I is an autosomal dominant disease with complete penetrance and variable age-dependent expressivity. It is caused by heterozygous mutations in neurofibromin 1 (NF1). These occur throughout the length of the gene, with no apparenthotspots. Even though some mutations have been found repeatedly, most have been observed only once. This,.. Read More»

Genet. Mol. Res. 14(3):
2015.July.27.21
DOI:
10.4238/2015.July.27.21
Human Genetics   Research Article

Treatment and mechanism of BMMSCs on deep II degree scald of hamster skin

Authors: M. Ma, T. Jiang, N. Li, A. Aliyaand A. Tuhan

In this study, we examined the treatment and mechanism of BMMSC on a deep II degree scald of the hamster skin. A deep II degree scald model on the skin of 40 hamsters was duplicated and divided randomly into a stem cell plantation group (group A) and model control group (group B). Skin cells were cultured in vitro until the allogeneic BMMSCs of the 5th ge.. Read More»

Genet. Mol. Res. 14(3):
2015.July.27.12
DOI:
10.4238/2015.July.27.12
Human Genetics   Letter to the Editor

Mitochondrial DNA mutations may not be frequent in patients with aplastic anemia - Genet. Mol. Res. 11 (3): 2130-2137 â??Complete sequence analysis of mitochondrial DNA of aplastic anemia patientsâ?

Authors: J. Zhang N. Li J.-Y. Lin Q. Li J. Hai D.-W. Xu X.-L. Qian

Genet. Mol. Res. 11(4):
2012.December.21.2
DOI:
10.4238/2012.December.21.2
Human Genetics   Research Article

Impact of caffeine on ?² cell proliferation and apoptosis under the influence of palmitic acid

Authors: L. Chen, M. Yu, T. Shen, J. Xia and B.L. Xu

We examined the influence of caffeine on the proliferation and apoptosis of b cells cultured in vitro in the presence of the free fatty acid palmitic acid (PA). Different concentrations of caffeine (1-100 mM) and free fatty PA were added to cultured b cells. The MTT assay was used to analyze cell proliferative activity; flow cytometry was used to measure .. Read More»

Genet. Mol. Res. 14(2):
2015.May.29.4
DOI:
10.4238/2015.May.29.4
Human Genetics   Research Article

Retrospective analysis of live birth prevalence of children with Down syndrome in Denizli, Turkey

Authors: Retrospective analysis of live birth prevalence of children with Down syndrome in Denizli, Turkey

Down syndrome (DS) is the most frequent chromosome abnormality among live births. Its prevalence increases with maternal age, and can be diagnosed by antenatal screening. We examined prevalence variations of DS in Denizli, Turkey, through a retrospective study. Sixteen years of survey data were retrieved from the two main state hospital registries from re.. Read More»

Genet. Mol. Res. 11(4):
Human Genetics   Research Article

Human papillomavirus infection in Brazilian women with normal cervical cytology

Authors: P.M. Miranda, B.C.V. Pitol, M.S. Moran, N.N.T. Silva, P.M. Felix, J.L. Lima-Filho, C.M. Carneiro, I.D.C.G. Silva, R.F. Carvalho, A.A. Lima, W. Be?§ak and R.C. Stocco

We examined the prevalence of human papillomavirus (HPV) infection in a sample of Brazilian women presenting normal cervical cytology. Possible interactions between patient characteristics and HPV infection were analyzed in order to provide background data to improve cervical cancer screening and prophylaxis. Cervical samples .. Read More»

Genet. Mol. Res. 11(2):
http://dx.doi.org/2012.June.29.8
DOI:
http://dx.doi.org/10.4238/2012.June.29.8