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Human Genetics

Human Genetics   Research Article

Association between ERCC1 and ERCC2 polymorphisms and breast cancer risk in a Chinese population

Authors: R. Zhao and M.F. Ying

We conducted a case-control study to investigate the role of ERCC1 rs3212986 and ERCC2 rs13181 gene polymorphisms in the development of breast cancer. Between March 2012 and March 2014, a total of 242 newly diagnosed breast cancer patients with histopathologically confirmed primary breast cancer and 242 healthy controls were recruited. Genotyping of ERCC1.. Read More»

Genet. Mol. Res. 15(1):
gmr.15017263
DOI:
10.4238/gmr.15017263
Human Genetics   Research Article

Relationship between vitamin D (1,25-dihydroxyvitamin D3) receptor gene polymorphisms and primary biliary cirrhosis risk: a meta-analysis

Authors: F. Fang, J. Wang, J. Pan, G.H. Su, L.X. Xu and G. Li

The vitamin D (1,25-dihydroxyvitamin D3) receptor (VDR) gene encodes a protein that functions in the transcriptional regulation of vitamin D-responsive genes and plays a role in innate immunity and adaptive immune responses. In this study, we investigated the relationship between VDR polymorphisms (BsmI, ApaI, and TaqI) and primary biliary cirrhosis (PBC).. Read More»

Genet. Mol. Res. 14(1):
2015.February.6.1
DOI:
10.4238/2015.February.6.1
Human Genetics   Research Article

Major congenital anomalies: a five-year retrospective regional study in Turkey

Authors: A.G. Tomatir H. Demirhan H.��. Sorkun A. K�¶ksal F. ��zerdem N. ��ilengir

We examined the distribution and demographic characteristics of congenital anomalies in a Turkish province for five years. The records of 63,159 live births between 2000 and 2004 were examined retrospectively. Major congenital anomalies were classified according to year, organ system, gender, family relationship, maternal age,.. Read More»

Genet. Mol. Res. 8(1):
vol8-1gmr506
DOI:
10.4238/vol8-1gmr506
Human Genetics   Research Article

Analysis of thyroid peroxidase antibody in early pregnancy

Authors: L. Lin, X.L. Zhang and Y. Long

This study aimed to investigate the thyroid peroxidase antibody (TPOAb) positive rate and how TPOAb affects thyroid function between 7 and 12 weeks of gestation. Six hundred and eleven cases of healthy primipara were enrolled in this study between September 2010 and June 2011, and all of them were given a regular prenatal chec.. Read More»

Genet. Mol. Res. 13(3):
2014.July.7.3
DOI:
10.4238/2014.July.7.3
Human Genetics   Research Article

Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree

Authors: X. Jin, Y.H. Chen, Z. Liu, Y. Deng, N.N. Li, H. Huang, M. Qi, X. Yi and J. Zhu

Autosomal dominant optic atrophy (ADOA) is an optic neuropathy characterized by bilateral optic nerve pallor and decreased visual acuity. It has been reported to be associated with two genes, OPA1, OPA3, and the OPA4, OPA5, and OPA8 loci. However, mutationsin OPA1 constitute the most prevalent cause of ADOA. The purpose of this study was to identify the u.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.21.8
DOI:
http://dx.doi.org/10.4238/2015.September.21.8
Human Genetics   Research Article

Wnt/�²-catenin aids in regulating the proliferation of hepG2 cells mediated by thy-1

Authors: B.Q. Cheng, Y. Jiang, Q. Zhu and W.G. Lin

Cancer stem cells have been found to play important roles in carcinoma. Although thy-1 has been identified as a potential stem cell marker of liver cancer, whether the Wnt/β-catenin signaling pathway plays an important role in regulating hepatocarcinoma proliferation and apoptosis mediated by thy-1 remains unknown. Our re.. Read More»

Genet. Mol. Res. 13(3):
2014.July.7.4
DOI:
10.4238/2014.July.7.4
Human Genetics   Research Article

Association between V4 polymorphism in the ADAM33 gene and asthma risk: a meta-analysis

Authors: W. Zheng, L. Wang, X. Su and X.F. Hu

In this study, we evaluated the associations between the V4 (rs2787094 G>C) polymorphism in a disintegrin and metalloproteinase domain 33 (ADAM33) gene and asthma risk. We searched Web of Science, PubMed, Google Scholar, EBSCO, Cochrane Library, and CBM databases from inception through August 2013, without language restrictions. Meta-analysis was perfo.. Read More»

Genet. Mol. Res. 14(1):
2015.February.6.2
DOI:
10.4238/2015.February.6.2
Human Genetics   Research Article

Genetic diversity in somatic mutants of grape (Vitis vinifera) cultivar Italia based on random amplified polymorphic DNA

Authors: S.H.Z. Maia C.A. Mangolin S.A.O. Collet M.F.P.S. Machado

Random amplified polymorphic DNA (RAPD) markers were used to detect polymorphism and to examine relationships among four table grape clones from northwestern Paraná, in southern Brazil. The 10 primers used for RAPD fingerprints generated 126 reproducible fragments, of which 63, 68, 76, and 72 were polymorphic in cultiva.. Read More»

Genet. Mol. Res. 8(1):
vol8-1gmr536
DOI:
10.4238/vol8-1gmr536
Human Genetics   Research Article

Genetic analyses of the major and minor locus groups of bacterial wilt resistance in tobacco using a diallel cross design

Authors: Y.L. Qian1*, J. Chen2*, J.J. Dong3, Z.C. Wu4, Y.H. Liu3, B.Y. Xue3, F.W. Shao3 and X.Y. Sun1

Tobacco germplasm samples with various levels of resistance to bacterial wilt were selected to construct F1 combinations of parental inbred lines and orthogonal diallel crosses using samples collected in 2009 (15 germplasms), 2010 (15 germplasms), and 2011 (16 germplasms). A total of 1/2P (P + 1) experimental materials were used for analysis. Based on the.. Read More»

Genet. Mol. Res. 15(1):
gmr.15017223
DOI:
10.4238/gmr.15017223
Human Genetics   Research Article

Decreased MEFV gene expression in rheumatoid arthritis patients

Authors: E.O. Etem, S.S. Koca, D. Erol, S. Yolbas, E. Oz, H. Elyas and A. Is�±k

Rheumatoid arthritis (RA) is a major cause of adult chronic inflammatory arthritis and an autoimmune disease of unknown etiology in which the inflammatory pathology involves T cell activation. Genetic mutations in the Mediterranean fever (MEFV) gene, encoding pyrin, influence the severity of RA, but the underlying mechanisms are not completely understood... Read More»

Genet. Mol. Res. 14(1):
2015.February.6.3
DOI:
10.4238/2015.February.6.3