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Genetic Polymorphism

Human Genetics   Research Article

Scientometric analysis: Five years of genetic polymorphisms

Authors: A.M. Barbosa, K.S.F. De Silva, M.H. Lagares, D.A. Rodrigues, J.V.M. Martins, I.R. Da Costa, K.K.V.O. Moura

Scientometrics is a quantitative evaluation of scientific and technological activities. The main objective is to point the number of methodologies used in scientific studies or even the structure of several research centers. This type of metric study belongs to the area of sociology of scientific knowledge. It covers quantitat.. Read More»

Genet. Mol. Res. 17(2):
gmr16039913
DOI:
10.4238/gmr16039913
Human Genetics   Research Article

Genetic Polymorphism in Endometriosis: Trends in Scientific Production

Authors: Maria Gabriela Machado Junqueira, Amanda Fernandes Costa, Felipe de Ara�ºjo Nascimento, K�¡tia Karina Verolli de Oliveira Moura, Fl�¡via Melo Rodrigues

Endometriosis is characterized by the presence of endometrial tissue located outside the uterine cavity. The prevalence is around 6 to 10%. Regarding etiopathogenesis, several theories are accepted, but alterations in the molecular biology of the endometrium seem to be fundamental for the development of endometriosis. Women wi.. Read More»

Genet. Mol. Res. 17(1):
gmr16039891
DOI:
10.4238/gmr16039891
Animal Genetics   Research Article

Effect of genetic polymorphism of �±S1- casein gene on qualitative and quantitative milk traits in native Bulgarian Rhodopean cattle breed

Authors: J Peter Hristov, Denitsa Teofanova, Ani Georgieva, Georgi Radoslavov

Milk protein genetic polymorphisms of the genus Bos provoke a significant scientific interest, mainly associated with their evolution, population structure, breeding and hybridization. The aim of present study is to investigate the influence of the genetic variants of αS1- casein gene with respect to milk production and .. Read More»

Genet. Mol. Res. 17(1):
gmr16039868
DOI:
10.4238/gmr16039868
Human Genetics   Research Article

AluYb8 insertion in the WNK1 gene is not associated with hypertension in a Russian Caucasian population

Authors: Elmira Akhmedova, Svetlana Y. Nikulina, Alla B. Salmina, Anna Chernova, Marina Bazanova, Anna Ohapkina, Aleksey Semenchukov, Paolo E. Maltese, Elena Manara and Matteo Bertelli

WNK1 (With No-lysine Kinase 1), a serine-threonine kinase, regulates blood pressure by acting on various sodium transport-related ion channels. Several studies report a link between common variants of the WNK1 gene and hypertension. No data exists on Russian populations. Our aim was to evaluate the association between the WNK1.. Read More»

Genet. Mol. Res. 16(4):
gmr16039809
DOI:
10.4238/gmr16039809
Human Genetics   Research Article

Assessment of the rs4340 ACE gene polymorphism in acute coronary syndrome in a Western Mexican population

Authors: A. Valdez-Haro, Y. Valle, E. Valdes-Alvarado, F. Casillas-Mu�±oz, J.F. Mu�±oz-Valle, G.L. Reynoso-Villalpando, H.E. Flores-Salinas and J.R. Padilla-Guti�©rrez

Acute coronary syndrome (ACS) is considered one of the main causes of death worldwide. Contradictory findings concerning the impact of the angiotensin-converting enzyme (ACE) gene on cardiovascular diseases have been reported. Previous conclusions point out that the variability in results depends on ethnicity and genetic polym.. Read More»

Genet. Mol. Res. 16(3):
gmr16039779
DOI:
10.4238/gmr16039779
Human Genetics   Research Article

Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study

Authors: M.F. Mattos, L. Uback, P.M. Biselli-Chicote, J.M. Biselli, E.M. Goloni-Bertollo and E.C. Pavarino

Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals witho.. Read More»

Genet. Mol. Res. 16(3):
gmr16039738
DOI:
10.4238/gmr16039738
Human Genetics   Research Article

Association of xeroderma pigmentosum group D (Asp312Asn, Lys751Gln) and cytidine deaminase (Lys27Gln, Ala70Thr) polymorphisms with outcome in Chinese non-small cell lung cancer patients treated with cisplatin-gemcitabine

Authors: M. Zhou, Y.J. Ding, Y. Feng, Q.R. Zhang, Y. Xiang and H.Y. Wan

Xeroderma pigmentosum group D (XPD) plays a key role in the repair of DNA and platinum resistance lesions. Cytidine deaminase (CDA) genes determine the velocity of gemcitabine catalysis. This study aimed to investigate the relationship between XPD and CDA genotypes and outcome in non-small lung cancer (NSCLC) patients. We used.. Read More»

Genet. Mol. Res. 13(2):
2014.April.29.9
DOI:
10.4238/2014.April.29.9
Microbial Genetics   Research Article

Genetic variability and phylogenetic aspects in species of the genus Macrobrachium

Authors: A.L. Guerra, A.V.B. Lima, R.V. Lucato J�ºnior, M.C. Chiachio, F.G. Taddei and L. Castiglioni

The genus Macrobrachium includes prawns, which are widely distributed in lakes, floodplains, and rivers in tropical and subtropical regions of South America. This genus presents nearly 210 known species with great ecological and economic importance. However, few studies are related to the biology of these crustaceans. In this .. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.May.9.7
DOI:
http://dx.doi.org/10.4238/2014.May.9.7
Cytogenomics   Research Article

Genetic contribution of CYP2C9, CYP2C19, and APOE variants in acenocoumarol response

Authors: J.A. Nastasi-Catanese1, J.R. Padilla-Guti�©rrez2, Y. Valle2, F. Ortega-Guti�©rrez3, M.P. Gallegos-Arreola4 and L.E. Figuera5,6

Oral anticoagulants of the coumarin type have an inconveniently narrow therapeutic window, making their use difficult. In Mexico, genetic variables that participate in the heterogeneity of the therapeutic response remain poorly investigated. With the focus on warfarin, extensive pharmacogenomic studies have been performed, including those on the CYP450 fa.. Read More»

Genet. Mol. Res. 12(4):
2013.October.10.7
DOI:
10.4238/2013.October.10.7
Human Genetics   Research Article

Association between CASP-8 gene polymorphisms and cancer risk in some Asian population based on a HuGE review and meta-analysis

Authors: Y.J. Zhang, X.P. Zhong, Y. Chen, S.R. Liu, G. Wu and Y.F. Liu

Genetic variation in the CASP-8 gene reportedly can increase cancer susceptibility by regulating tumor cell proliferation and apoptosis. Several studies have investigated this possibility; however, the conclusions remain controversial. We made a Human Genome Epidemiology (HuGE) review and did a meta-analysis to explore the association between CASP-8 gene .. Read More»

Genet. Mol. Res. 12(4):
2013.February.28.3
DOI:
10.4238/2013.February.28.3