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Human Genetics   Research Article

Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome

Authors: L.Q. Wu, J.J. Hu, J.J. Xue and D.S. Liang

Congenital nephrotic syndrome of the Finnish type (CNF) is a lethal, autosomal recessive disorder mainly caused by mutations in the NPHS1 gene; it is found at a relatively high frequency in Finns. We investigated the disease-causing mutations in a Chinese family with CNF and developed a prenatal genetic diagnosis for their lat.. Read More»

Genet. Mol. Res. 10(4):
2011.October.18.1
DOI:
10.4238/2011.October.18.1
Medical Genetics   Research Article

Effects of MMP-1 and MMP-3 gene polymorphisms on gene expression and protein level in lumbar disc herniation

Authors: B. Eser, O. Eser, Y. Yuksel, H. Aksit, E. Karavelioglu, M. Tosun and Z. Sekerci

The aim of this study was to identify the possible correlation between polymorphisms in matrix metalloproteinase (MMP)-1 and MMP-3 and their corresponding protein levels in disctissues obtained from patients with lumbar disc herniation (LDH) using biochemical and immunohistochemical analyses. Blood and disc samples were obtained from 100 patients with LDH.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038669
DOI:
10.4238/gmr.15038669
Animal Genetics   Short communication

Isolation and characterization of polymorphic microsatellite loci in Aleurodicus dispersus (Hemiptera, Aleyrodidae)

Authors: G.-C. Ma, X. Wu, C.-L. Ma, H.-L. Wu, H.-Y. Hu, L.-M. Niu and Y.-G. Fu

Ten microsatellite markers were isolated and characterized from Aleurodicus dispersus, the spiraling whitefly, an exotic pest species that is considered to be one of the most serious agricultural pests on Hainan Island, China. The polymorphism of these loci was examined in individual whiteflies from Hainan Island and from the .. Read More»

Genet. Mol. Res. 10(4):
2011.October.18.2
DOI:
10.4238/2011.October.18.2
Human Genetics   Research Article

HLA-B51 subtypes in Turkish patients with Beh�§etâ��s disease and their correlation with clinical manifestations

Authors: D.D. Demirseren, G.G. Ceylan, G. Akoglu, S. Emre, S. Erten, A. Arman and A. Metin

Behçet’s disease (BD) is a multisystemic inflammatory disease believed to be triggered by microbial or environmental factors on a genetic platform. Clinically, it may have an impact on many body systems, including the mucocutaneous, ocular, articular, vascular, and neurological systems. In this study, we aimed to .. Read More»

Genet. Mol. Res. 13(3):
2014.July.2.8
DOI:
10.4238/2014.July.2.8
Medical Genetics   Research Article

A potential indicator of denervated muscle atrophy: the ratio of myostatin to follistatin in peripheral blood

Authors: R.H. Wu, P. Wang, L. Yang, Y. Li, Y. Liu and M. Liu

Myostatin is a secreted negative regulator of muscle mass, and follistatin antagonizes the function of several members of the TGF-b family, including myostatin. Previously, myostatin expression was found to be closely associated with atrophy of the gastrocnemius muscle, showing a linear correlation, after sciatic nerve injury... Read More»

Genet. Mol. Res. 10(4):
2011.October.21.7
DOI:
10.4238/2011.October.21.7
Microbial Genetics   Research Article

Detection of Salmonella Enteritidis in asymptomatic carrier animals: comparison of quantitative real-time PCR and bacteriological culture methods

Authors: B.M. Maciel, J.C.T. Dias, C.C. Romano, N. Sriranganathan, M. Brendel and R.P. Rezende

Quantification of Salmonella in asymptomatic carrier animals can be used to assess microbial risk and monitor the level of contamination in domestic animals used for food production. We examined the sensitivity, specificity and accuracy of real-time qPCR, without pre-enrichment or selective enrichment stages, for the quantific.. Read More»

Genet. Mol. Res. 10(4):
2011.October.24.1
DOI:
10.4238/2011.October.24.1
Animal Genetics   Research Article

Association of chicken growth hormone polymorphisms with egg production

Authors: Y.J. Su, J.T. Shu, M. Zhang, X.Y. Zhang, Y.J. Shan, G.H. Li, J.M. Yin, W.T. Song, H.F. Li and G.P. Zhao

Growth hormone (GH) has diverse functions in animals, together with other hormones from the somatotropic axis. Here, chicken GH (cGH) was investigated in recessive white chickens and Qingyuan partridge chickens as a candidate gene affecting egg production traits. Chicken egg production traits were studied in association with 4.. Read More»

Genet. Mol. Res. 13(3):
2014.July.4.3
DOI:
10.4238/2014.July.4.3
Medical Genetics   Research Article

A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population

Authors: W. Zeng, L. Liu, Y. Tong, H.M. Liu, L. Dai and M. Mao

Congenital heart defects (CHDs) are the most common birth defects; genes involved in homocysteine/folate metabolism may play important roles in CHDs. Methionine synthase reductase (MTRR) is one of the key regulatory enzymes involved in the metabolic pathway of homocysteine. We investigated whether two polymorphisms (A66G and C.. Read More»

Genet. Mol. Res. 10(4):
2011.October.25.7
DOI:
10.4238/2011.October.25.7
Human Genetics   Research Article

Correlation between polymorphisms in the estrogen receptor �± gene and coronary heart disease: A meta-analysis

Authors: W. Zhou, K.H. He and M.H. Chen

The aim of this study was to conduct a systematic evaluation the correlation between polymorphisms in the estrogen receptor α gene (ESRα) and coronary heart disease susceptibility. Case-control studies until August 2015 analyzing the correlation between the ESRα PvuII T/C polymorphism and coronary heart disease were obtained from various.. Read More»

Genet. Mol. Res. 15(3):
gmr.15037835
DOI:
10.4238/gmr.15037835
Animal Genetics   Research Article

Two genetic stocks of Steindachneridion melanodermatum living in sympatry in nature and genetic variability of wild parents and F1 generation

Authors: D.A. Matoso, M. da Silva, M.C.S. Cortinhas, M.M. Cestari, M.C. de Almeida, M.R. Vicari and R.F. Artoni

Steindachneridion melanodermatum is a large Brazilian catfish, highly prized for sport fishing and for its meat. Specimens of this species, both caught in nature from Iguacu River and F1 fish born in captivity, were analyzed with regard to patterns of RAPD molecular markers. Genetic similarity ranged from 0.57 to 0.95; two gro.. Read More»

Genet. Mol. Res. 10(4):
2011.October.25.8
DOI:
10.4238/2011.October.25.8