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Human Genetics

Human Genetics   Research Article

Endothelial progenitor cells derived from the peripheral blood of halfpipe- snowboarding athletes display specific functional properties

Authors: Y.H. Zhao, J.C. Kan, Y.F. Wang, W.J. Guan and Z.Q. Zhu

In this study, we compared the functional properties of endothelial progenitor cells (EPCs) derived from halfpipe-snowboarding athletes who train under hyperoxic conditions with those derived from normal subjects who lived under normoxic conditions. Peripheral blood-derived EPCs were isolated from both halfpipe-snowboarding at.. Read More»

Genet. Mol. Res. 15(4):
gmr15047026
DOI:
10.4238/gmr15047026
Human Genetics   Short communication

The functional polymorphisms -429T>C and -374T>A of the RAGE gene promoter are not associated with gestational diabetes in Euro-Brazilians

Authors: I.C.R. Santos, D.R. Daga, H.R. Frigeri, R.R. R�©a, A.C.R. Almeida, E.M. Souza, F.O. Pedrosa, C.M.T. Fadel-Picheth and G. Picheth

The receptor for advanced glycation end products (RAGE or AGER) is a multiligand member of the immunoglobulin superfamily. RAGE is expressed in several tissues, including human myometrium, chorionic villi and placenta. Advanced glycation end products are the best studied ligands of RAGE; they have pro-inflammatory actions in h.. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr817
DOI:
10.4238/vol9-2gmr817
Human Genetics   Short communication

Validation of reference genes for real-time quantitative PCR in tambaqui (Colossoma macropomum)

Authors: A.R. Nascimento, G.F. Silva, G.F. Gualberto and F.L. Almeida

Tambaqui, Colossoma macropomum, is the main native freshwater fish in Brazilian aquaculture. Therefore, intensive research pressure has been applied to the species to support new technologies for tambaqui farming. Molecular biology represents a tool that can be used to investigate every field of applied biology, from fish phys.. Read More»

Genet. Mol. Res. 15(4):
gmr15049228
DOI:
10.4238/gmr15049228
Human Genetics   Research Article

CDKAL1 and type 2 diabetes: a global meta-analysis

Authors: M.A.S. Dehwah, M. Wang and Q.-Y. Huang

CDKAL1 (cyckin-dependent kinase 5 regulatory subunit-associated protein 1-like 1) has been shown to be associated with type 2 diabetes in various ethnic groups; however, contradictory results have been reported. We performed a comprehensive meta-analysis of 21 studies for rs7756992, 17 studies for rs7754840 and 10 studies for .. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr802
DOI:
10.4238/vol9-2gmr802
Human Genetics   Research Article

Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey

Authors: M. Balkan, H. Akbas, H. Isi, D. Oral, A. Turky�±lmaz, S. Kalkanli, S. Simsek, M. Fidanboy, M.N. Alp, A. Gedik and T. Budak

We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and str.. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr827
DOI:
10.4238/vol9-2gmr827
Human Genetics   Research Article

Evaluation on the germplasm of maize (Zea mays L.) landraces from southwest China

Authors: F.B. Chen, Q.L. Yao, H.F. Liu and P. Fang

Because of their local adaptation and economic factors that limit the adoption of commercial hybrids, farmer-saved maize landraces are still grown over a considerable area concentrated in southwest China. To evaluate the potential of using maize landraces, the germplasm characteristics of 96 landraces from southwest China were.. Read More»

Genet. Mol. Res. 15(4):
gmr15049160
DOI:
10.4238/gmr15049160
Human Genetics   Research Article

Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients

Authors: L.K. Pandey, S. Pandey, J. Gupta and A.K. Saxena

Infertility is a major reproductive health threat; the frequency of male infertility due to Y-chromosome microdeletions is 13-18% in the human population; these microdeletions involve recurrent loss of three non-overlapping regions designated as AZFa, AZFb and AZFc, associated with spermatogenic failure. Several contradictory .. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr836
DOI:
10.4238/vol9-2gmr836
Human Genetics   Research Article

The azoospermia factor locus-c region was found to be related to Klinefelter syndrome in Turkish patients

Authors: C. Ceylan, G.G. Ceylan and T.A. Serel

We looked for a possible association between Klinefelter syndrome (KFS) and microdeletions in the Y chromosome in Turkish KFS patients. We examined the frequency of KFS in male patients with proven non-obstructive azoospermia and the types of Y chromosome microdeletions in these KFS patients. Fifty azoospermic patients and 50 .. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr826
DOI:
10.4238/vol9-2gmr826
Human Genetics   Research Article

Role of XRCC1 gene polymorphisms in non-small cell lung cancer cisplatin-based chemotherapy, and their effect on clinical and pathological characteristics

Authors: H.F. Liu, J.S. Liu, J.H. Deng and R.R. Wu

Non-small cell lung cancer (NSCLC) is the most common cancer globally. The XRCC1 protein interacts with ligase and poly(ADP-ribose) polymerase to repair cisplatin-induced DNA damage. The authors of previous studies have reported XRCC1 Arg399Gln, Arg280His, and Arg194Trp polymorphisms and advanced NSCLC prognosis, but the resul.. Read More»

Genet. Mol. Res. 15(4):
gmr15049084
DOI:
10.4238/gmr15049084
Human Genetics   Research Article

C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects

Authors: M.O. Erdogan, S.H. Yildiz, M. Solak, O. Eser, E. Cosar, B. Eser, R. Koken and S. Buyukbas

Association between neural tube defects (NTDs) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was suspected, because the MTHFR gene codes for a key enzyme in folate metabolism. Its deficiency usually leads to significant reductions in plasma concentrations of folate, vitamin B12 and methionine, .. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr816
DOI:
10.4238/vol9-2gmr816