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EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature
Authors: S.X. Huang, J.L. Liang, W.G. Sui, H. Lin, W. Xue, J.J. Chen, Y. Zhang, W.W. Gong, Y. Dai and M.L. Ou
Ectodermal dysplasia (ED) represents a collection of rare disorders that result from a failure of development of the tissues derived from the embryonic ectoderm. ED is often associated with hair, teeth, and skin abnormalities, which are serious conditions affecting the quality of life of the patient. To date, a large number of genes have been found to be .. Read More»
- Genet. Mol. Res. 14(3):
- 2015.August.28.21
- DOI:
- 10.4238/2015.August.28.21
Notification of Huntington�s disease as primary cause of death in Brazil from 1984 to 2008
Authors: I.P. Vaz and C.L.A. Paiva
The aim of this article was to conduct a retrospective observational study on reported deaths due to Huntington’s disease (HD) in Brazil in the past 25 years (from 1984 to 2008). Data were obtained from the Brazilian Mortality Information System (SIM/DATASUS), the official system of Brazilian Mortality Database. The data.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15028257
- DOI:
- 10.4238/gmr.15028257
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
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
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
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
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):
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):
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):
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