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Human Genetics

Human Genetics   Research Article

Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus

Authors: H. Bardak, M. Gunay, E. Yildiz, Y. Bardak, B. Gunay, H. Ozbas and O. Bagci

The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus (KC). The patient group consisted of 44 patients who had undergone corneal transplant surgery before the age of 30, for advanced and rapidly progressive KC. The control group comprised 250 healthy individuals. We d.. Read More»

Genet. Mol. Res. 15(4):
gmr15049024
DOI:
10.4238/gmr15049024
Human Genetics   Research Article

Liguisticum wallichii inhibits renal carcinoma progression by downregulating UBE3A and through suppression of NF-�ºB signaling

Authors: J.S. Wu, P.M. Zhang, L.J. Sun and X.Z. Liu

Renal carcinoma accounts for a fifth of the morbidity among malignant tumors in China. Ubiquitin-protein ligase E3A (UBE3A) plays an important role in the occurrence and development of gene mutation-induced diseases. This study was designed to investigate the mechanism of Liguistium wallichii in treating renal carcinoma. Hemat.. Read More»

Genet. Mol. Res. 15(4):
gmr15049023
DOI:
10.4238/gmr15049023
Human Genetics   Research Article

Cinnamon effectively inhibits the activity of leukemia stem cells

Authors: X. Guan, M.C. Su, R.B. Zhao, H.M. Ouyang, X.D. Dong, P. Hu, Q. Pei, J. Lu, Z.F. Li, C.R. Zhang and T.-H Yang

Cinnamon is the main component of Sanyangxuedai, which is one of the effective traditional Chinese medicines for treating malignancies. Leukemia is a prevalent malignant disease that Sanyangxuedai has been used to treat. Although successful in several studies, there is a lack of solid evidence as to why Sanyangxuedai has an effect on leukemia, and little .. Read More»

Genet. Mol. Res. 15(3):
gmr.15037662
DOI:
10.4238/gmr.15037662
Human Genetics   Research Article

Human leukocyte antigen-B27 alleles in Xinjiang Uygur patients with ankylosing spondylitis

Authors: H.-Y. Zou, W.-Z. Yu, Z. Wang, J. He and M. Jiao

We investigated the distribution of human leukocyte antigen (HLA)-B27 subtypes in Uygur ankylosing spondylitis patients in Xinjiang. B27-positive patients with ankylosing spondylitis were subtyped by using polymerase chain reaction-sequence-based typing. The HLA-B27 subtype frequencies of Uygur patients were compared with those in Han patients in Xinjiang.. Read More»

Genet. Mol. Res. 14(2):
2015.May.25.17
DOI:
10.4238/2015.May.25.17
Human Genetics   Research Article

Effect of total peony glucoside pretreatment on NF-�ºB and ICAM-1 expression in myocardial tissue of rat with myocardial ischemia-reperfusion injury

Authors: L. Lu, P. Wei, Y. Cao, Q. Zhang, M. Liu, X.D. Liu, Z.L. Wang and P.Y. Zhang

Early recovery of myocardial perfusion is beneficial for myocardial ischemia. However, ischemia-reperfusion (I/R) may exacerbate myocardial injury. Research shows that total peony glucoside (TPG) can inhibit ischemic myocardial cell apoptosis. However, whether it can ameliorate I/R injury remains poorly understood. This study .. Read More»

Genet. Mol. Res. 15(4):
gmr15048978
DOI:
10.4238/gmr15048978
Human Genetics   Research Article

Genetic diversity of Ceratoides arborescens, a species endemic to China, detected by intersimple sequence repeat (ISSR)

Authors: P.C. Wang, L.L. Zhao, B.T. Mo, Y. Zhang, J. Chen and L.B. Wang

In order to investigate genetic diversity and population structure of Ceratoides arborescens, six populations were selected from different steppe types in Inner Mongolia grasslands of China. Intersimple sequence repeat (ISSR) markers were used to assess the genetic diversity within and among natural populations of C. arborescens. Thirteen ISSR primers gen.. Read More»

Genet. Mol. Res. 14(2):
2015.May.25.18
DOI:
10.4238/2015.May.25.18
Human Genetics   Research Article

Role of IL-8 gene polymorphisms in glioma development in a Chinese population

Authors: J.W. Fu, K.W. Wang and S.T. Qi

This case-control study aimed to investigate the role of -251 T>A (rs4073) and -781 C>T (rs2227306) polymorphisms in the interleukin-8 (IL-8) gene in the development of glioma in a Chinese population. One hundred and twenty-seven glioma patients and 284 healthy control subjects were recruited to this study between February 2013 and December 2014. Th.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038127
DOI:
10.4238/gmr.15038127
Human Genetics   Research Article

Genetic ACE I/D and ACTN3 R577X polymorphisms and adolescent idiopathic scoliosis

Authors: R.P. Luciano, M. Wajchenberg, S.S. Almeida, C.E.N. Amorim, L.M.R. Rodrigues, R.C. Araujo, E.B. Puertas and F. Faloppa

The etiology of adolescent idiopathic scoliosis remains unknown. Angiotensin-converting enzyme and α-actinin-3 polymorphisms influence the characteristics of muscle fibers. The aim of this study was to examine the association between idiopathic scoliosis and genetic polymorphism of angiotensin-converting enzyme and &alph.. Read More»

Genet. Mol. Res. 15(4):
gmr15048959
DOI:
10.4238/gmr15048959
Human Genetics   Research Article

Combination of IL-6, IL-10, and MCP-1 with traditional serum tumor markers in lung cancer diagnosis and prognosis

Authors: Y.W. Pan, Z.G. Zhou, M. Wang, J.Q. Dong, K.P. Du, S. Li, Y.L. Liu, P.J. Lv and J.B. Gao

Early detection and treatment is critically important for lung cancer patients. Inflammatory mediators such as IL-6, IL-10, and MCP-1 participate in lung cancer regulation. CEA, CA125, and ProGRP are commonly used serum tumor markers for lung cancer. In this study, we assessed the sensitivity and specificity of CEA, CA125, and.. Read More»

Genet. Mol. Res. 15(4):
gmr15048949
DOI:
10.4238/gmr15048949
Human Genetics   Research Article

Identifying potential PARIS homologs in D. melanogaster

Authors: E.M. Merzetti and B.E. Staveley

Mitochondrial destruction leads to the formation of reactive oxygen species, increases cellular stress, causes apoptotic cell death, and involves a cascade of proteins including PARKIN, PINK1, and Mitofusin2. Mitochondrial biogenesis pathways depend upon the activity of the protein PGC-1α. These two processes are coordin.. Read More»

Genet. Mol. Res. 15(4):
gmr15048934
DOI:
10.4238/gmr15048934