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Human Genetics

Human Genetics   Research Article

Is there a relationship between polyploidy and stressful environments? A case study of inselbergs in northeastern Brazil

Authors: S.R. Pitrez, L.A. Andrade, F.N.M. Assis and L.P. Felix

The aim of this study was to examine the hypothesis that plants with higher ploidy levels are selected by environments under more extremely stressful conditions than the same (or closely related) species from less rigorous terrestrial or epiphytic habitats. Therefore, we analyzed the chromosome numbers of 26 species belonging to 21 genera and 13 families .. Read More»

Genet. Mol. Res. 13(4):
2014.October.20.11
DOI:
10.4238/2014.October.20.11
Human Genetics   Research Article

Effectiveness of bacterial infection-related cytokine profile (BIRCP) determination for monitoring pathogen infections in children with hemopathy in the bone marrow inhibition phase

Authors: X.D. Chen, B. Chen, Y.M. Tang, H. Song, S.W. Shi, S.L. Yang, W.Q. Xu, B.H. Pan, F.Y. Zhao, N. Zhao, L.Y. Zhang and J.Q. Mao

Genet. Mol. Res. 13(4):
Human Genetics   Research Article

Lack of association between the vitamin D receptor polymorphism rs2228570 and chronic periodontitis in a Han Chinese population

Authors: X. Wang, T.L. Zhang and D. Chen

The vitamin D receptor (VDR) is involved in the immune response and bone metabolism, both of which are implicated in the pathogenesis of chronic periodontitis (CP). In this study, we investigated the association between the VDR single nucleotide polymorphism rs2228570 and CP susceptibility in a Han Chinese population consistin.. Read More»

Genet. Mol. Res. 14(4):
2015.October.9.18
DOI:
10.4238/2015.October.9.18
Human Genetics   Research Article

XRCC3 T241M polymorphism and lung cancer risk in the Han Chinese population: a meta-analysis

Authors: J.H. Zhang1,2, Q.L. Wen3, C. Yang2, A.L. Li2, Y. Liu2 and X.S. Li1

Numerous studies have evaluated the association between the X-ray repair cross-complementing group 3 (XRCC3) T241M polymorphism and lung cancer risk; however, the actual association is controversial. We examined whether the T241M polymorphism confers a lung cancer risk in China. We searched the PubMed, Google Scholar, and China National Knowledge Infrastr.. Read More»

Genet. Mol. Res. 13(4):
Human Genetics   Research Article

KCNE1 112G>A polymorphism and atrial fibrillation risk: a meta-analysis

Authors: H.G. Han, H.S. Wang, Z. Yin, H. Jiang, M. Fang and J. Han

KCNE1, a membrane protein that spans the membrane once is responsible for modulating potassium channel functions and plays an important role in the etiology of arrhythmia. Emerging evidence indicates that a common polymorphism (112G>A; rs1805127 G>A) in the KCNE1 gene contributes to atrial fibrillation (AF) risk; however, these studies showed inconc.. Read More»

Genet. Mol. Res. 13(4):
2014.October.20.12
DOI:
10.4238/2014.October.20.12
Human Genetics   Research Article

Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation

Authors: N. Zhao, Y. Sui, X.F. Li, W. Liu, Y.P. Lu, W.H. Feng, C. Ma, Y.W. Wang, H.X. Bao, F. Huang, H. Wang, D.X. Yi, W.T. Han and M. Jiang

We studied four Chinese families with pure hereditary spastic paraplegia (HSP) to investigate the clinical features and associated genetic mutations. Linkage analysis was performed for all families to map the disease locus onto autosomal chromosomes, and related loci involved in HSP on the X chromosome were also examined. Polymerase chain reaction (PCR) s.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.33
DOI:
10.4238/2015.November.18.33
Human Genetics   Research Article

Protection effect of atorvastatin in cerebral ischemia-reperfusion injury rats by blocking the mitochondrial permeability transition pore

Authors: T. Song, J. Liu, X. Tao and J.G. Deng

The aim of this study was to investigate the influence of atorvastatin on the opening of the mitochondrial permeability transition pore (MPTP) and the expression of cytochrome C (Cyt C) in Sprague-Dawley rats with cerebral ischemia-reperfusion (I/R). The rat model of cerebral artery ischemia was established by the suture-occluded method with ischemia for .. Read More»

Genet. Mol. Res. 13(4):
2014.December.18.5
DOI:
10.4238/2014.December.18.5
Human Genetics   Research Article

Etiological factors, prognostic assessment, and outcomes of patients with acute kidney injury and multiple organ dysfunction syndrome

Authors: Z. Gao1, D.W. Mu2, L. Guo3, X.M. Li1 and L.D. Lun1

This clinical study assessed the etiological factors implicated in acute kidney injury (AKI). AKI has a complicated etiology with many serious complications. Understanding the interactions among these factors will help physicians treat patients with AKI. This retrospective study analyzed the etiological factors and assessed the incidence and outcome of 12.. Read More»

Genet. Mol. Res. 13(4):
/2014.October.20.13
DOI:
/10.4238/2014.October.20.13
Human Genetics   Research Article

Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients

Authors: A.I. G�¼ney, D. Javadova, D. K�±rac, K. Ulucan, G. Koc, D. Ergec, H. Tavukcu and T. Tarcan

Infertility affects about 10-15% of all couples attempting pregnancy with infertility attributed to the male partner in approximately half of the cases. Proposed causes of male infertility include sperm motility disturbances, Y chromosome microdeletions, chromosomal abnormalities, single gene mutations, and sperm mitochondrial.. Read More»

Genet. Mol. Res. 11(2):
2012.April.27.2
DOI:
10.4238/2012.April.27.2
Human Genetics   Research Article

Interaction of six candidate genes in essential hypertension

Authors: D.C. Hu, X.L. Zhao, J.C. Shao, W. Wang, J. Qian, A.H. Chen, H.Q. Zhang, H. Guo, J. Jiang and H.Y. Li

We explored the interaction of 6 candidate genetic mutations in essential hypertension (EH). The mutations AGT M235T, ACE I/D, eNOS Glu298Asp, ET-2 A985G, ANP T2238C, and NPRC A-55C were detected using a genechip microarray in 100 patients with EH and 97 controls from the Han population living in the Yunnan Province of China. Risks of EH were evaluated wi.. Read More»

Genet. Mol. Res. 13(4):
2014.October.20.14
DOI:
10.4238/2014.October.20.14