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Human Genetics   Research Article

Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia

Authors: L.H. Cao L. Wang C.Y. Ji L.B. Wang H.W. Ma Y. Luo

Spondyloepiphyseal dysplasia (SED) is an autosomal dominant skeletal dysplasia characterized by short stature, abnormal epiphyses and flattened vertebral bodies. SED is mainly caused by mutations in the gene encoding the type II procollagen Ã?±-1 chain (COL2A1). We looked for mutations in COL2A1 in three unrelated Chinese families with SED. Putative mutatio.. Read More»

Genet. Mol. Res. 11(4):
2012.September.27.1
DOI:
10.4238/2012.September.27.1
Medical Genetics   Research Article

Association between IRF5 polymorphisms and autoimmune diseases: a meta-analysis

Authors: L. Tang, B. Chen, B. Ma and S. Nie

In this study, we investigated the association between 5 interferon regulatory factor-5 (IRF5) single nucleotide polymorphisms (SNPs) and autoimmune diseases using the Medline citation index. Twenty-eight studies with 74 comparisons, including 16 rheumatoid arthritis (RA), 43 systemic lupus erythematous (SLE), 2 juvenile idiop.. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.16.6
DOI:
http://dx.doi.org/10.4238/2014.June.16.6
Animal Genetics   Research Article

Molecular differentiation of species of the genus Zungaro (Siluriformes, Pimelodidae) from the Amazon and Paran�¡-Paraguay River basins in Brazil

Authors: T.A. Boni, A.A. Padial, S.M.A.P. Prioli, L.C. Lucio, T.C. Maniglia, T.S. Bignotto, R.S. Panarari-Antunes, R.A. Prioli and A.J. Prioli

Fish species of the Zungaro genus (Siluriformes, Pimelodidae) are amongst the largest migratory fish in Latin America and have considerable economic importance for commercial fishing in Brazil. However, natural populations of this large catfish are experiencing a severe decline. There are significant taxonomical inconsistencie.. Read More»

Genet. Mol. Res. 10(4):
2011.November.10.2
DOI:
10.4238/2011.November.10.2
Human Genetics   Research Article

Characterization of mitochondrial genotypes in the foundation herd of the Canchim beef cattle breed

Authors: S.C. M�©o C.R. Ferreira M.R. Chiaratti F.V. Meirelles L.C.A. Regitano M.M. Alencar P.F. Barbosa

The Canchim (5/8 Charolais + 3/8 Zebu) beef cattle breed was developed at Southeast-Embrapa Cattle to take advantage of hybrid vigor and to combine the higher growth rate and beef quality of Charolais with tropical adaptations of Zebu. The development of three lineages (old, new, and crossbred) has increased its genetic basis... Read More»

Genet. Mol. Res. 8(1):
vol8-1gmr577
DOI:
10.4238/vol8-1gmr577
Plant Genetics   Research Article

Molecular authentication of the medicinal herb Ruta graveolens (Rutaceae) and an adulterant using nuclear and chloroplast DNA markers

Authors: F. Al-Qurainy, S. Khan, M. Tarroum, F.M. Al-Hemaid and M.A. Ali

Dried parts of different plant species often look alike, especially in powdered form, making them very difficult to identify. Ruta graveolens, sold as a dried medicinal herb, can be adulterated with Euphorbia dracunculoides. The genomic DNA was isolated from the leaf powder (100 mg each) using the modified CTAB method. Interna.. Read More»

Genet. Mol. Res. 10(4):
2011.November.10.3
DOI:
10.4238/2011.November.10.3
Medical Genetics   Research Article

Comparison of integrated traditional Chinese and western medicine therapy on vascular cognitive impairment with no dementia

Authors: L.P. Wang, X.Y. Zhang, N. Liu, Z.Z. Ma and D.S. Fang

The aim of this study was to investigate the clinical effect of western medicine therapy assisted by Ginkgo biloba tablets (GBT) in patients with vascular cognitive impairment with no dementia (VCIND). Eighty patients with VCIND were randomly divided into two groups: the conventional treatment group (control group) and the combined treatment group. The co.. Read More»

Genet. Mol. Res. 14(2):
2015.May.11.22
DOI:
10.4238/2015.May.11.22
Cytogenomics   Research Article

Updates and perspectives on the utilization of molecular makers of complex traits in rice

Authors: G. Li S.W. Kwon Y.J. Park

After complete sequencing of its genome and annotation of the majority of its ~32,000 genes, rice genome has become the model genome among the cereal genomes, and the focus has shifted from structural to functional genomics and application of genomic-derived information in rice breeding. During the past 2 decades, intensive worldwide efforts have led to s.. Read More»

Genet. Mol. Res. 11(4):
2012.September.10.4
DOI:
10.4238/2012.September.10.4
Plant Genetics   Research Article

Comparison of methods to isolate DNA from Caesalpinia ferrea

Authors: C.C. Sousa, S.O. Gomes, A.C.A. Lopes, R.L.F. Gomes, F.B. Britto, P.S.C. Lima and S.E.S. Valente

Molecular markers are important for characterizing the genetic diversity of plants and can provide the basis for strategies to protect and conserve endangered populations. However, numerous molecular techniques are used, requiring an evaluation of fast and efficient methods to extract DNA. Since molecular studies of Caesalpini.. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.16.7
DOI:
http://dx.doi.org/10.4238/2014.June.16.7
Human Genetics   Research Article

Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women

Authors: R.O. Gon�§alves, L.R. Fraga, W.V.B. Santos, A.F.L. Carvalho, B.A.V. Veloso Cerqueira, M. Sarno, M.B.P. Toralles, M.J. Vieira, C.G. Dutra, L. Sch�¼ler-Faccini, M.T.V. Sanseverino, M.S. Gon�§alves, F.S.L. Vianna and O.L.N. Costa

Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations - factorV (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T - in women with recurrent miscarriages. In this case-control .. Read More»

Genet. Mol. Res. 15(3):
gmr.15038156
DOI:
10.4238/gmr.15038156
Human Genetics   Research Article

Oligonucleotide microarray analysis reveals dysregulation of energy-related metabolism in insulin-sensitive tissues of type 2 diabetes patients

Authors: M. Wang, X.C. Wang, L. Zhao, Y. Zhang, L.L. Yao1, Y. Lin, Y.D. Peng and R.M. Hu

Impaired insulin action within skeletal muscle, adipose tissue, and the liver is an important characteristic of type 2 diabetes (T2D). In order to identify common underlying defects in insulin-sensitive tissues that may be involved in the pathogenesis of T2D, the gene expression profiles of skeletal muscle, visceral adipose ti.. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.17.1
DOI:
http://dx.doi.org/10.4238/2014.June.17.1