Human Genetics
Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondyloÃ?Âepiphyseal dysplasia congenita
Authors: Sangsin1,2,3,4, C. Srichomthong3,4, M. Pongpanich5,6, K. Suphapeetiporn3,4 and V. Shotelersuk3,4
Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face, pectus carinatum, indirect inguinal hernia, platyspondyly, and general.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017624
- DOI:
- 10.4238/gmr.15017624
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients
Authors: B.F. Gamba, G.H. Vieira, D.H. Souza, F.F. Monteiro, J.J. Lorenzini, D.R. Carvalho and D. Morreti-Ferreira
Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% of cases), or by point mutation in the RAI1 gene (10% of cases). Laboratory diagnosis is through cytogenet.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.October.31.17
- DOI:
- 10.4238/2011.October.31.17
Expression profiles of phosphatidylinositol phosphate kinase genes during normal human in vitro erythropoiesis
Authors: T.R. Zaccariotto C. Lanaro D.M. Albuquerque M.N.N. Santos M.A.C. Bezerra F.G.P. Cunha I. Lorand-Metze A.S. Araujo F.F. Costa M.F. Sonati
Phosphatidylinositol phosphate kinases (PIPKs) are enzymes that participate in diverse intracellular signaling pathways. They are classified into 3 functionally distinct subfamilies - PIPKI (a, b, g), PIPKII (a, b, g), and PIPKIII - located in various subcellular compartments. Recently, the PIPKIIa and b-globin genes were found to be overexpressed in reticul.. Read More»
- Genet. Mol. Res. 11(4):
- 2012.November.12.3
- DOI:
- 10.4238/2012.November.12.3
Effect of isokinetic training on shoulder impingement
Authors: T.L. Wang, B.M. Fu, G. Ngai and P. Yung
The aim of this study was to review the literature evaluating the effect of isokinetic training in patients suffering from shoulder impingement syndrome (SIS). Studies published up to March 2011 were located from the Pubmed, Scopus, Lilacs, Physiotherapy Evidence Database, and Cochrane Library databases using “isokinetic.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.January.31.1
- DOI:
- http://dx.doi.org/10.4238/2014.January.31.1
Relationship between RUNX3 methylation and hepatocellular carcinoma in Asian populations: a systematic review
Authors: X.X. Lu, L.Q. Zhu, F. Pang, W. Sun, C. Ou, Y. Li, J. Cao and Y.L. Hu
Runt-related transcription factor 3 (RUNX3) is a potential tumor suppressor that is frequently hypermethylated in hepatocellular carcinoma (HCC). The present meta-analysis of case-control studies was carried out to determine whether RUNX3 hypermethylation is associated with HCC. The PubMed, Embase, and Chines.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.7.11
- DOI:
- 10.4238/2014.July.7.11
Exhaustive search for conservation networks of populations representing genetic diversity
Authors: J.A.F. Diniz-Filho1, J.V.B.P.L. Diniz2 and M.P.C. Telles3
Conservation strategies routinely use optimization methods to identify the smallest number of units required to represent a set of features that need to be conserved, including biomes, species, and populations. In this study, we provide R scripts to facilitate exhaustive search for solutions that represent all of the alleles in networks with the smallest .. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017525
- DOI:
- 10.4238/gmr.15017525
GSTM1 gene polymorphism and the risk of colorectal cancer in a Saudi Arabian population
Authors: M.N. Khabaz1, T. Nedjadi2, M.A. Gari3, J.A. Al-Maghrabi4, H.M. Atta5,M. Bakarman6 and Z.J. Gazzaz7
The enzyme glutathione S-transferase Mu 1 (GSTM1) is encoded by the GSTM1 gene. Polymorphisms in GSTM1 affect the detoxifying function of the enzyme variants. This forms the basis of the debate about the impact of the GSTM1 null/present genotype on colorectal carcinoma risk. We tested the potential influence of GSTM1 polymorphisms on the development of co.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017551
- DOI:
- 10.4238/gmr.15017551
Evaluation of associations between single nucleotide polymorphisms in the FRMD3 and CARS genes and diabetic nephropathy in a Kuwaiti population
Authors: S. Al-waheeb1, M. Alwohhaib2, A. Abdelghani3, S. Al-Sharrah2, E. Al-Shafey4,A. Al-Sahow4, N. Alyatama5, A.A. Dashti2 and N. Hussain3
Diabetic nephropathy is the leading cause of end-stage kidney disease in the world. Many single nucleotide polymorphisms (SNPs) have been associated with diabetic nephropathy. SNPs at the 4.1 protein ezrin, radixin, moesin domain 3 (FRMD3) and cysteinyl t-RNA synthetase (CARS) genes have a well-established relationship with diabetic nephropathy. However, .. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017619
- DOI:
- 10.4238/gmr.15017619
Lack of association between catalase gene polymorphism (T/C exon 9) and susceptibility to vitiligo in a Turkish population
Authors: H. Bulut, M. Pehlivan, S. Alper, A.G. Tomatir, H. Onay, S.E. Y�¼ksel, F. ��zkinay and S. Pehlivan
Accumulation of hydrogen peroxide (H2O2) and low catalase (CAT) activity have been demonstrated in the epidermis of vitiligo patients. We investigated a possible association between the CAT exon 9 (Asp-389) gene and vitiligo susceptibility in the Turkish population. Thirty-four patients with vitiligo and 49 gender, age and eth.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.October.31.13
- DOI:
- 10.4238/2011.October.31.13
Bone morphogenetic protein 2 and decorin expression in old fracture fragments and surrounding tissues
Authors: X.G. Han, D.K. Wang, F. Gao, R.H. Liu and Z.G. Bi
Bone morphogenetic protein 2 (BMP-2) can promote fracture healing. Although the complex role BMP-2 in bone formation is increasingly understood, the role of endogenous BMP-2 in nonunion remains unclear. Decorin (DCN) can promote the formation of bone matrix and calcium deposition to control bone morphogenesis. In this study, tissue composition and express.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.21.19
- DOI:
- http://dx.doi.org/10.4238/2015.September.21.19