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Human Genetics   Research Article

Splicing mutation of a gene within the Duchenne muscular dystrophy family

Authors: Y.B. Zhu, J.H. Gan, J.W. Luo, X.Y. Zheng, S.C. Wei and D. Hu

The aim of this study was to identify the mutation site and phenotype of the Duchenne muscular dystrophy (DMD) gene in a DMD family. The DMD gene is by far the largest known gene in humans. Up to 34% of the point mutations reported to date affect splice sites of the DMD gene. However, no hotspot mutation has been reported. Cap.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028258
DOI:
10.4238/gmr.15028258
Animal Genetics   Research Article

Genetic effect of an A/G polymorphism in the HSP70 gene on thermotolerance in chicken

Authors: Z.Y. Chen, W.W. Zhang, J.K. Gan, L.N. Kong, X.Q. Zhang,D.X. Zhang and Q.B. Luo

Studying thermotolerance is important for the prevention of thermostress in chickens. This study aimed to analyze the effect of mutations in the heat shock protein 70 (HSP70) gene on chicken thermotolerance. The C.-69A>G SNP in the 5'-flanking region of the HSP70 gene was genotyped in Lingshan and White Recessive Rock (WRR).. Read More»

Genet. Mol. Res. 15(2):
gmr.15028271
DOI:
10.4238/gmr.15028271
Human Genetics   Research Article

Effect of the house dust mite allergen Der p 1 on tryptase release from human mast cells

Authors: D.Q. Wang, Y.Y. Shen, J.H. Xu and H. Tang

This study aimed to investigate the effects of the house dust mite allergen Der p 1 on the secretion of tryptase from the human mast cell line HMC-1. Flow cytometry was used to determine the expression levels of protease-activated receptor-2 (PAR2) on the surface of HMC-1 cells. HMC-1 cells were treated with Der p 1, SLIGRL-NH.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028284
DOI:
10.4238/gmr.15028284
Plant Genetics   Research Article

Enhanced salt tolerance in tomato plants constitutively expressing heat-shock protein in the endoplasmic reticulum

Authors: C. Fu, X.X. Liu, W.W. Yang, C.M. Zhao and J. Liu

The accumulation of unfolded or misfolded proteins in the endoplasmic reticulum (ER) causes ER stress and activates the unfolded protein response (UPR) signaling pathway. The UPR signaling pathway is associated with plant responses to adverse environmental conditions. Thus, changes in the UPR signaling pathway might affect pla.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028301
DOI:
10.4238/gmr.15028301
Human Genetics   Research Article

Exome sequencing in Thai patients with familial obesity

Authors: S. Kaewsutthi, J. Santiprabhob, B. Phonrat, A. Tungtrongchitr,P. Lertrit and R. Tungtrongchitr

Obesity is a major worldwide health issue, with increasing prevalence in adults and children from developed and developing countries. Obesity causes several chronic diseases, including cardiovascular and respiratory diseases, osteoarthritis, hypertension, stroke, type II diabetes, obstructive sleep apnea, and several types of .. Read More»

Genet. Mol. Res. 15(2):
Human Genetics   Research Article

Association between monoamine oxidase B A644G polymorphism and Parkinson�s disease risk: a meta-analysis in the Chinese population

Authors: J.J. Liu, W. Wang, M. Meng, C.S. Liang and J.W. Zhang

Although various individual studies have evaluated the correlation between monoamine oxidase B (MAOB), polymorphism, and Parkinson’s disease (PD), the results remain inconclusive. Therefore, we performed a meta-analysis in the Chinese population to provide comprehensive data on the association between the MAOB polymorphi.. Read More»

Genet. Mol. Res. 15(2):
Human Genetics   Research Article

Serum soluble RAGE level inversely correlates with left ventricular hypertrophy in essential hypertension patients

Authors: Q. Liu, H.B. Chen, M. Luo, H. Zheng

Soluble receptor for advanced glycation end-products (sRAGE) acts as a decoy to prevent interaction between RAGE and its pro-inflammatory ligands. sRAGE levels have been found to decrease in chronic inflammatory diseases, including hypertension. However, few data have been reported concerning the association between serum sRAG.. Read More»

Genet. Mol. Res. 15(2):
Human Genetics   Research Article

ORMDL3 variants associated with bronchiolitis susceptibility in a Chinese population

Authors: X.T. Liu, L. Ren, L.L. Zhou, Q.Y. Xiao, Y. Deng and E.M. Liu

Recent studies revealed common genetic risks for both viral bronchiolitis and asthma. Genome-wide association studies revealed that rs7216389 in the ORMDL3 gene is associated with childhood asthma. We conducted a case-control study examining the associations between ORMDL3 polymorphisms (rs7216389, rs12603332, and rs11650680) and bronchiolitis susceptibil.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.25
DOI:
10.4238/2015.December.29.25
Human Genetics   Research Article

Association of TNF-�± G308A gene polymorphism in essential hypertensive patients without type 2 diabetes mellitus

Authors: N. Ghodsian, M. Akhlaghi, V. Ramachandran, F. Heidari, P. Haghvirdizadeh, S.A. Eshkoor, A. Etemad, J.A. Jamaluddin and P. Ismail

This study aims to investigate the effects of tumor necrosis factor alpha (TNF-α) G308A gene polymorphism on essential hypertension (EHT) with or without type 2 diabetes mellitus (T2DM). The project was conducted on buccal epithelial and blood cells for case and control patients, respectively. Epithelial cells were obtained from the inner part of th.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.4
DOI:
10.4238/2015.December.29.4
Animal Genetics   Research Article

Molecular cloning and expression analysis of female sterile homeotic gene (fsh) in the oriental river prawn Macrobrachium nipponense

Authors: W.Y. Zhang, S.F. Jiang, Y.W. Xiong, H.T. Fu1,, H. Qiao, S.M. Sun, Y.S. Gong and S.B. Jin

The gene female sterile homeotic (fsh) plays crucial roles in molecular function, including protein kinase activity and DNA binding, which are involved in biological processes such as terminal region determination and negative regulation of DNA-dependent transcription. Although fsh has been found in Drosophila melanogaster, little is known regarding its e.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.30.4
DOI:
http://dx.doi.org/10.4238/2015.April.30.4