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Human Genetics

Human Genetics   Research Article

Spermatogenesis in Triatoma melanocephala (Hemiptera: Triatominae)

Authors: K.C.C. Alevi1, P.P. Mendon�§a1, N.P. Pereira1, J.A. Rosa2 and M.T.V. Azeredo-Oliveira1

Triatoma melanocephala is a rare species of Hemiptera. It belonged to the Brasiliensis subcomplex and presents morphological characteristics very close to those of Triatoma vitticeps. We investigated spermatogenesis of T. melanocephala and compared it with that of T. vitticeps in order to determine whether these organisms have similar cytogenetic characte.. Read More»

Genet. Mol. Res. 12(4):
2013.October.24.5
DOI:
10.4238/2013.October.24.5
Human Genetics   Research Article

Correlation of SPECT imaging, biochemical parameters and mutation with systolic dysfunction

Authors: D. Alenizi, N.A. Kizilbash, O. Gill, A. Abukanna, S. Malik, A. Badawy

We investigated systolic dysfunction by the use of biochemical laboratory tests and perfusion single-photon emission computed tomography imaging in 32 Pakistani subjects exhibiting symptoms of this disorder. To investigate underlying genetic causes, such as familial hypercholesterolemia, DNA samples from these subjects were sc.. Read More»

Genet. Mol. Res. 12(4):
2013.November.26.6
DOI:
10.4238/2013.November.26.6
Human Genetics   Research Article

Novel association analysis between HLA-DQB1 polymorphisms and rectal cancer based on a cross-validation design

Authors: F.Z. Tong, W.J. Yu, H. Liu

A new study design based on cross-validation of the age at the onset of rectal cancer and the differences between the frequency distributions of relevant genes in 2 groups was developed for identification of disease-related HLA. Patients with rectal cancer were recruited and their age at the time of the first surgery was recor.. Read More»

Genet. Mol. Res. 12(4):
2013.November.26.5
DOI:
10.4238/2013.November.26.5
Human Genetics   Research Article

Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel

Authors: H.L. Xi1*, J.F. Liu1*, L. Li2 and J. Wan1

ATP-sensitive potassium channels play an important role in myocardial electrical activity. Genetic disruption of these channels predisposes the myocardium to cardiac diseases. Herein we investigated whether two polymorphisms, E23K and I337V, located in the Kir6.2 subunit of ATP-sensitive potassium channels are associated with dilated cardiomyopathy (DCM) .. Read More»

Genet. Mol. Res. 12(4):
2013.October.10.4
DOI:
10.4238/2013.October.10.4
Human Genetics   Research Article

Relationship between the acylation-stimulating protein gene and coronary heart disease in the Xinjiang Uygur and Han populations of China

Authors: Y. Chen, Y.T. Ma, S.J. Yang, Y.N. Yang, Z.Y. Fu, X. Xie, X.M. Li and Y.Y. Zheng

The association of the single nucleotide polymorphism 301T>C in the coding region of the acylation-stimulating protein (ASP) gene with coronary heart disease (CHD) was investigated in the Uygur (385 CHD patients and 483 control subjects) and Han (390 CHD patients and 439 control subjects) populations of China. The frequency.. Read More»

Genet. Mol. Res. 13(2):
2014.April.8.6
DOI:
10.4238/2014.April.8.6
Human Genetics   Research Article

Functional polymorphisms of the glutamate receptor N-methyl D-aspartate 2A gene are associated with heroin addiction

Authors: H.J. Zhong1,2, Z.H. Huo1,2, J. Dang1, J. Chen1, Y.S. Zhu1 and J.H. Liu3

Heroin dependence is a debilitating psychiatric disorder with a complex inheritance mechanism. Genetic polymorphisms in functional regions of the glutamate receptor, N-methyl D-aspartate 2A (GRIN2A) gene, which encodes the 2A subunit of the N-methyl D-aspartate (NMDA) receptor, may modulate the risk of heroin addiction. We investigated the potential assoc.. Read More»

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

HLA-B35, a common genetic trait, in a familial case of Henoch-Schoenlein purpura and Berger�s disease

Authors: M.C. Pellegrin, L. Matarazzo, E. Neri, M. Pennesi and S. Crovella

Nephritis characterized by IgA mesangial depositions has been described both in Henoch-Schoenlein purpura (HSP) and in Berger’s disease (BD), but common genetic traits are still uncertain. We report here the case of two brothers, the first affected by HSP with persistent nephritis and the second by BD, accidentally disco.. Read More»

Genet. Mol. Res. 13(2):
2014.April.8.9
DOI:
10.4238/2014.April.8.9
Human Genetics   Research Article

Prognostic implication of molecular aberrations in cytogenetically normal acute myeloid leukemia patients receiving allogeneic hematopoietic stem cell transplantation

Authors: Y.C. Liu1,2,3*, H.H. Hsiao1,2*, P.M. Lin4, W.C. Yang1,3, C.S. Chang1,2, T.C. Liu1,3, J.F. Hsu1, M.Y. Yang5 and S.F. Lin1,2

Different molecular aberrations can be discriminated into certain prognostic subgroups in cytogenetically normal acute myeloid leukemia (CN-AML) patients but their impact on allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains controversial and studies from Asian populations are lacking. Forty-two adult non-M3 AML patients receiving allo.. Read More»

Genet. Mol. Res. 12(4):
2013.November.11.3
DOI:
10.4238/2013.November.11.3
Human Genetics   Research Article

Endothelial cells on the proliferation and expression of intercellular adhesion molecule 1 and interleukin 8 of vascular smooth muscle cells

Authors: H.-P. Tang1*, L.-X. Sun2* and W. Han1*

The aim of this study was to investigate the influence of activated endothelial cells on the proliferation and secretion of vascular smooth muscle cells (VSMCs). Cultured lung microvascular endothelial cells were treated with or without tumor necrosis factor alpha (TNF-α; 10 ng/mL) for 6 h, and the supernatant was collected and filtered. The superna.. Read More»

Genet. Mol. Res. 12(4):
2013.October.10.2
DOI:
10.4238/2013.October.10.2
Human Genetics   Research Article

Study of white matter at the centrum semiovale level with magnetic resonance spectroscopy and diffusion tensor imaging in cerebral small vessel disease

Authors: L.A. Huang, X.Y. Ling, C. Li, S.J. Zhang, G.B. Chi and A.D. Xu

White matter lesion (WML) in magnetic resonance imaging is commonly observed in patients with cerebral small vessel disease (SVD), but the pathological mechanism of WML in SVD is still unclear. We observed the metabolism and microscopic anatomy of white matter in SVD patients. Twelve subjects clinically diagnosed with SVD and .. Read More»

Genet. Mol. Res. 13(2):
2014.April.8.11
DOI:
10.4238/2014.April.8.11