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Human Genetics   Research Article

Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population

Authors: L. Meng, Y. Gu, X.F. Du, M.H. Shao, L.L. Zhang, G.L. Zhang and X.L. Wang

Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we examined four familial and two sporadic cases and searched for case reports.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.45
DOI:
10.4238/2015.December.29.45
Microbial Genetics   Research Article

Linker length affects expression and bioactivity of the onconase fusion protein in Pichia pastoris

Authors: G.G. Yang, X.Y. Xu, Y. Ding, Q.Q. Cui, Z. Wang, Q.Y. Zhang, S.H. Shi, Z.Y. Lv, X.Y. Wang, J.H. Zhang, R.G. Zhang and C.S. Xu

The aim of this study was to analyze the effect of linker length on the expression and biological activity of recombinant protein onconase (ONC) in fusion with human serum albumin (HSA) in Pichia pastoris. Four flexible linkers with different lengths namely Linker L0, L1: (GGGGS)1, L2: (GGGGS)2, and L3:(GGGGS)3 were inserted into the fusion gene and refer.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.46
DOI:
10.4238/2015.December.29.46
Animal Genetics   Research Article

Expression of OPG, RANKL, and RUNX2 in rabbit periodontium under orthodontic force

Authors: B. Li, Y.H. Zhang, L.X. Wang, X. Li and X.D. Zhang

This study aims to investigate the expression changes of RANKL, RUNX2, and OPG in rabbit periodontal tissues under orthodontic force and explore its effect on the remodeling of periodontal tissues. A total of 16 specific pathogen-free rabbits were used in this study. The maxillary appliance was worn on the right (experimental) side, and the appliance-free.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.48
DOI:
10.4238/2015.December.29.48
Microbial Genetics   Research Article

Direct preparation protocol to obtain mitotic chromosomes from canine mammary tumors

Authors: C.S.D. Morais, P.R.A.M. Affonso, J.A. Bitencourt and A.A. Wenceslau

Currently, mammary neoplasms in female canines are a serious problem in veterinary clinics. In addition, the canine species is an excellent disease model for human oncology because of the biological and genetic similarities between the species. Cytogenetics has allowed further study of the characterization of neoplasms in canines. We hypothesized that the.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.49
DOI:
10.4238/2015.December.29.49
Human Genetics   Research Article

Correlation between serum YKL-40 levels and albuminuria in type 2 diabetes

Authors: J.Y. Han, X.Y. Ma, L.J. Yu, Y. Shao and Q.Y. Wang

We explored the correlation between serum YKL-40 levels and albuminuria in type 2 diabetes mellitus (T2DM) and its clinical significance. This study used a cross-sectional survey method. According to the American Diabetes Association 2007 Clinical Practice Recommendations, 738 patients with T2DM were divided into three groups: a normoalbuminuria group [al.. Read More»

Genet. Mol. Res. 14(4):
2015.December.28.7
DOI:
10.4238/2015.December.28.7
Animal Genetics   Research Article

SNPs in the 5'-regulatory region of the tyrosinase gene do not affect plumage color in ducks (Anas platyrhynchos)

Authors: N.N. Zhang, J.W. Hu, H.H. Liu, H.Y. Xu, H. He and L. Li

Tyrosinase, encoded by the TYR gene, is the rate-limiting enzyme in the production of melanin pigment. In this study, plumage color separation was observed in Cherry Valley duck line D and F1 and F2 hybrid generations of Liancheng white ducks. Gene sequencing and bioinformatic analysis were applied to the 5'-regulatory region of TYR, to explore the connec.. Read More»

Genet. Mol. Res. 14(4):
2015.December.28.11
DOI:
10.4238/2015.December.28.11
Animal Genetics   Research Article

Construction and characterization of recombinant adenovirus carrying a mouse TIGIT-GFP gene

Authors: J.M. Zheng, J.L. Cui, W.T. He, D.W. Yu, Y. Gao, L. Wang, Z.K. Chen and H.M. Zhou

Recombinant adenovirus vector systems have been used extensively in protein research and gene therapy. However, the construction and characterization of recombinant adenovirus is a tedious and time-consuming process. TIGIT is a recently discovered immunosuppressive molecule that plays an important role in maintaining immunological balance. The constructio.. Read More»

Genet. Mol. Res. 14(4):
2015.December.28.14
DOI:
10.4238/2015.December.28.14
Human Genetics   Research Article

Relationship between rs1047763 polymorphism of the C1GALT1 gene and susceptibility to immunoglobulin A nephropathy in Xinjiang Uyghur people

Authors: J.N. Xue, Y. Guo, X. Song, F. Xue, S.F. Yang, H. Jiang, R.Z.W.A. Bu-La and C. Lu

We explored the relationship between rs1047763, a single-nucleotide polymorphism (SNP) of the C1GALT1 gene, and genetic susceptibility to immunoglobulin A nephropathy (IgAN) in Xinjiang Uyghur people. The study comprised 90 patients with IgAN and 90 normal controls recruited from Uyghur people. The distribution of the rs1047763 polymorphism of C1GALT1 in .. Read More»

Genet. Mol. Res. 14(4):
2015.December.28.17
DOI:
10.4238/2015.December.28.17
Animal Genetics   Research Article

Genetic association of growth traits with carcass and meat traits in Nellore cattle

Authors: R.L. Tonussi, R. Espigolan, D.G.M. Gordo, A.F.B. Magalh�£es, G.C. Venturini, F. Baldi, H.N. de Oliveira, L.A.L. Chardulo, H. Tonhati and L.G. de Albuquerque

The aim of this study was to estimate genetic and phenotypic associations of growth traits with carcass and meat traits in Nellore cattle. Data from male and female animals were used for weaning weight (WW; N = 241,416), yearling weight (YW, N = 126,596), weight gain from weaning to yearling (GWY, N = 78,687), and yearling hip height (YHH, N = 90,720), re.. Read More»

Genet. Mol. Res. 14(4):
2015.December.28.20
DOI:
10.4238/2015.December.28.20
Animal Genetics   Research Article

Expression profiles of differentially expressed genes affecting fecundity in goat ovarian tissues

Authors: Y.H. Ling, Q. Quan, H. Xiang, L. Zhu, M.X. Chu, X.R. Zhang and C.Y. Han

Although RNA-Seq is an effective method for identifying and exploring novel functional genes in mammals, it has rarely been applied to study fertility-related genes in the goat. In this study, RNA-Seq was used to screen the estrus ovaries of uniparous and multiparous Anhui white goats (AWGs). In total, 15,890 genes were identified and 2201 of these were f.. Read More»

Genet. Mol. Res. 14(4):
2015.December.28.23
DOI:
10.4238/2015.December.28.23