Human Genetics

Comparative phylogenetic study of Stichotrichia (Alveolata: Ciliophora: Spirotrichea) based on 18S-rDNA sequences

Authors: T.S. Paiva B.N. Borges M.L. Harada I.D. Silva-Neto

Since molecular phylogenies of stichotrich ciliates started to be published, some remarkable contradictions to morphology- based classifications have been reported, such as the Convergent Evolution of Urostylids and Uroleptids (CEUU) hyphothesis, the Halteria paradox, the polyphyly of Oxytricha and of Stichotrichia. We hypothe.. Read More»

Genet. Mol. Res. 8(1):

vol8-1gmr529

DOI:

10.4238/vol8-1gmr529

Phenotype characterization and sequence analysis of BMP2 and BMP4 variants in two Mexican families with oligodontia

Authors: Y. Mu Z. Xu C.I. Contreras J.S. McDaniel K.J. Donly S. Chen

Both BMP2 and BMP4 are involved in tooth development. We examined phenotypes and BMP2 and BMP4 gene variations in two Mexican oligodontia families. Physical and oral examinations and panoramic radiographs were performed on affected and unaffected members in these two families. The affected members lacked six or more teeth. DNA sequencing was performed to .. Read More»

Genet. Mol. Res. 11(4):

2012.September.25.5

DOI:

10.4238/2012.September.25.5

Isolation and characterization of HC1: a novel human DNA repair gene

Authors: D.O. Lopes F.C. Falconi A.M. Goes Y. Canitrot J.S. Hoffmann C. Cazaux G.R. Franco A.M. Macedo S.D.J. Pena C.R. Machado

Nucleotide excision repair (NER) acts on a broad spectrum of large lesions, while base excision repair removes individual modified bases. Although both processes have been well studied in human cells, novel genes involved in these DNA repair pathways have been described. Using a heterologous complementation approach, we identi.. Read More»

Genet. Mol. Res. 8(1):

vol8-1gmr554

DOI:

10.4238/vol8-1gmr554

Validation of associations between ESR1 variants and breast cancer risk in Chinese cohorts

Authors: X. Li, G.Y. Yao, F.X. Li, Y.R. Qiu and X.X. Yang

Estrogen receptor-a (ER) protein plays a key role in breast carcinogenesis, and common genetic variants in the corresponding gene locus have been associated with breast cancer risk in different populations. Here, we analyzed estrogen receptor 1 (ESR1) associations in two hospital-based studies of patients from the south of China. Three single-nucleotide p.. Read More»

Genet. Mol. Res. 15(3):

gmr.15036683

DOI:

10.4238/gmr.15036683

Influence of the c.1517G>C genetic variant in the XRCC1 gene on pancreatic cancer susceptibility in a Chinese population

Authors: Z.M. Zhao, C.G. Li, M.G. Hu, Y.X. Gao and R. Liu

We investigated the influence of the c.1517G>C genetic variant in the X-ray repair complementing group 1 gene (XRCC1) on pancreatic cancer (PC) susceptibility in Chinese patients. A total of 390 PC patients and 392 controls were enrolled in this case-control study. The genotypes of c.1517G>C genetic variants were determi.. Read More»

Genet. Mol. Res. 13(2):

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

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

Th1/Th2 cytokine expression in diabetic retinopathy

Authors: Y.L. Cao, F.Q. Zhang and F.Q. Hao

Diabetic retinopathy (DR), an important complication of diabetes mellitus (DM), is not well understood. T helper cell balance (Th1/Th2) is involved in various autoimmune diseases; however, its role in DR is not understood. This study explores changes in Th1 and Th2 cytokine expression during DR. Blood samples were collected from 25 healthy volunteers (nor.. Read More»

Genet. Mol. Res. 15(3):

gmr.15037311

DOI:

10.4238/gmr.15037311

Primary open angle glaucoma was not found to be associated with p53 codon 72 polymorphism in a Brazilian cohort

Authors: R.E. Silva J.T. Arruda F.W. Rodrigues K.K.V.O. Moura

Genet. Mol. Res. 8(1):

vol8-1gmr578

DOI:

10.4238/vol8-1gmr578

Low miR-29c expression is a prognostic marker in hepatocellular carcinoma

Authors: C.W. Dong, Y.X. Wang, F.T. Du, W. Ding and S.Y. Hu

A previous study has revealed that miR-29c functions as a tumor suppressor in hepatocellular carcinoma (HCC), but the clinical significance and prognostic value of miR-29c in HCC have not been investigated. Paired human HCC tissues and adjacent noncancerous tissues were obtained from 91 patients, between 2008 to 2014. Quantitative real-time PCR (qRT-PCR) .. Read More»

Genet. Mol. Res. 15(3):

gmr.15037316

DOI:

10.4238/gmr.15037316