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Human Genetics

Human Genetics   Research Article

Association of miR-196a2, miR-27a, and miR-499 polymorphisms with isolated congenital heart disease in a Chinese population

Authors: K. Yu, Y. Ji, H. Wang, Q.K. Xuan, B.B. Li, J.J. Xiao, W. Sun and X.Q. Kong

We hypothesized that single nucleotide polymorphisms (SNPs) in certain microRNAs contribute to congenital heart disease (CHD) phenotypes. Five hundred and seventy-three subjects were enrolled in this study. DNA extracted from peripheral blood cells was used for SNP genotyping of miR-196a2 (rs11614913), miR-27a (rs11671784, rs8.. Read More»

Genet. Mol. Res. 15(4):
gmr15048929
DOI:
10.4238/gmr15048929
Human Genetics   Research Article

Reduced miRNA-218 expression in pancreatic cancer patients as a predictor of poor prognosis

Authors: B.-S. Li, H. Liu and W.-L. Yang

microRNA-218 (miR-218) is a vertebrate-specific miRNA that plays a crucial role in tumorigenesis and tumor progression. This study analyzed the miR-218 expression level and clinical significance in pancreatic cancer. One hundred and seven pairs of pancreatic cancer and adjacent normal tissues were analyzed by quantitative reverse-transcriptase polymerase .. Read More»

Genet. Mol. Res. 14(4):
2015
DOI:
10.4238/2015
Human Genetics   Case Reports

Serious pulmonary infection in a splenectomized patient with adult type 1 Gaucher disease

Authors: Y. Zhang, Y.F. Mao and J.M. Du

A 49-year-old man with a history of Gaucher disease type 1, resulting in serious splenomegaly and eating disorder, was referred to our department and underwent a splenectomy under general anesthesia. Gaucher disease is very rare, and its first signs are unexplained splenomegaly and hypersplenism. On preoperative examination, the patient’s platelet c.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.13.13
DOI:
http://dx.doi.org/10.4238/2015.April.13.13
Human Genetics   Research Article

Association between IL-4 gene polymorphisms, IL-4 serum levels, and ankylosing spondylitis

Authors: X.L. Liu, J.K. Ren and Y.L. Su

We aimed to investigate the effect of two common polymorphisms in interleukin-4 (IL-4) on serum IL-4 levels and the development of ankylosing spondylitis (AS) in the Chinese population. A total of 420 inpatients and outpatients diagnosed with AS were enrolled as the case group, and 330 healthy volunteers were selected as the c.. Read More»

Genet. Mol. Res. 15(4):
gmr15048898
DOI:
10.4238/gmr15048898
Human Genetics   Research Article

Conventional and contrast-enhanced ultrasound assessment of craniocerebral gunshot wounds

Authors: D. Deng, G. Dan, J. Tao, X.-B. Wu, Z. Chen, M. Chang, M.-S. Liao and F. He

This study aimed to investigate the characteristic features of craniocerebral gunshot wounds by conventional ultrasound (CUS) and evaluate the efficacy of contrast-enhanced ultrasound (CEUS) in differentiation of tissue condition in wounds. Twenty crossbreed dogs (treatment: N = 15; control: N = 5) were used in the study. Pipe-shaped hyperechoes of varyin.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.13.14
DOI:
http://dx.doi.org/10.4238/2015.April.13.14
Human Genetics   Research Article

Calpain-10 gene polymorphisms and risk of type 2 diabetes mellitus in Mexican mestizos

Authors: V.J. Picos-C�¡rdenas , E. S�¡inz-Gonz�¡lez , A. Miliar-Garc�­a ,A. Romero-Zazueta, R. Quintero-Osuna, E. Leal-Ugarte,V. Peralta-Leal and J.P. Meza-Espinoza

The calpain-10 gene is expressed primarily in tissues important in glucose metabolism; thus, some of its polymorphisms have been associated with type 2 diabetes. In this study, we examined the association between the calpain-10 single-nucleotide polymorphism (SNP)-43, SNP-19, and SNP-63 and type 2 diabetes in Mexican mestizos. We included 211 patients and.. Read More»

Genet. Mol. Res. 14(1):
2015.March.27.6
DOI:
10.4238/2015.March.27.6
Human Genetics   Research Article

Intestinal alkaline phosphatase and sodium butyrate may be beneficial in attenuating LPS-induced intestinal inflammation

Authors: A.D.B. Melo, H. Silveira, C. Bortoluzzi, L.J. Lara, C.A.P. Garbossa, G. Preis, L.B. Costa and M.H. Rostagno

In this study, we evaluated the effect of intestinal alkaline phosphatase (IAP) and sodium butyrate (NaBu) on lipopolysaccharide (LPS)-induced intestinal inflammation. Intestinal alkaline phosphatase and RelA/p65 (NF-κB) gene expressions in porcine jejunum explants were evaluated following exposure to sodium butyrate (Na.. Read More»

Genet. Mol. Res. 15(4):
gmr15048875
DOI:
10.4238/gmr15048875
Human Genetics   Research Article

Abnormal gene expression profile reveals the common key signatures associated with clear cell renal cell carcinoma: a meta-analysis

Authors: H.J. Zhang, Z.Q. Sun, W.Q. Qian and L. Sheng

The aims of this study were to identify the common gene signatures of clear cell renal cell carcinoma (CCRCC), and to expand the respective protein-protein interaction networks associated with CCRCC regulation. For the latter, we utilized multiple gene expression data sets from the National Center for Biotechnology Information (NCBI) Gene Expression Omnib.. Read More»

Genet. Mol. Res. 14(1):
2015.March.27.7
DOI:
10.4238/2015.March.27.7
Human Genetics   Research Article

Case study of a patient presenting both type II bipolar affective disorder and Klinefelter syndrome

Authors: H. Delavenne, J.M. Khoury, F. Thibaut and F.D. Garcia

Klinefelter syndrome (KS) is the most common sex chromosomal disorder with an estimated prevalence of 1 in 500-1000. Increased incidences of anxiety, depression, substance abuse, psychotic and behavioral disorders, and sexual disorders have been reported in patients with KS. The aim of this case study was to report a case of a.. Read More»

Genet. Mol. Res. 15(4):
gmr15048872
DOI:
10.4238/gmr15048872
Human Genetics   Research Article

Association between growth differentiation factor-15 and chronic heart failure in coronary atherosclerosis patients

Authors: Z.D. Zhu and T. Sun

We explored the association between plasma growth differentiation factor 15 (GDF-15) levels and chronic heart failure (CHF) in coronary heart disease patients. We measured plasma GDF-15 and N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels in 269 untreated coronary heart disease patients (98 with CHF, 84 without CHF, and 87 control patients) us.. Read More»

Genet. Mol. Res. 14(1):
2015.March.27.8
DOI:
10.4238/2015.March.27.8