Research Article

Related GMR Articles

05/18/2010
Ectodermal dysplasia; EDA; Jordanian; Mutation

Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Males show a severe form of this disease, while females often manifest mild to moderate symptoms. We identified a missense mutation (c.463C>T) in the EDA gene in a Jordanian family, using direct DNA sequencing. This mutation leads to ... more

O.F. Khabour; F.S. Mesmar; F. Al-Tamimi; O.B. Al-Batayneh; A.I. Owais
10/05/2007
Gliomas; Mutation; PAX6

Gliomas are the most common tumors of the central nervous system. In spite of the marked advances in the characterization of the molecular pathogenesis of gliomas, these tumors remain incurable and, in most of the cases, resistant to treatments, due to their molecular heterogeneity. Gene PAX6, which encodes a transcription factor that plays an important role in the development ... more

G.R. Pinto; C.A. Clara; M.J. Santos; J.R.W. Almeida; R.R. Burbano; J.A. Rey; C. Casartelli
02/17/2009
Anencephaly; Birth defects; Mutation; Neural tube defects; Spina bifida

The incidence of neural tube defects is higher in Turkey compared to that of developed countries. To prevent congenital malformations, understanding of the current status is necessary, which should be followed by public-based activities. We examined the incidence rate of neural tube defects (NTDs) in Afyonkarahisar. According to the records of the Department of Pediatrics, Zubeyde Hanım ... more

S.T. Onrat; H. Seyman; M. Konuk
10/21/2008
Ananas comosus var. bracteatus; Genetic variation; In vitro culture; Mutation; Somaclonal variation

The objective of the present study was to evaluate the genetic variability in micropropagated plantlets of ornamental pineapple, after the fourth period of subculture. The basal culture medium consisted of MS salts, vitamins, 3% sucrose, liquid formulation, supplemented with 6-benzylaminopurine (BAP) at concentrations of 0.125, 0.25, 0.5, 1.0, and 2.0 mg/L. The addition of BAP influenced the ... more

M.D.M. Santos; G.C.S. Buso; A.C. Torres
10/25/2011
CYP2D6*4; HLA-B27; Mutation; Real-time PCR

We analyzed distribution of HLA-B27 and CYP2D6*4 mutations in 249 patients from Tokat province in Turkey with symptoms of arthritis, sacroiliac, joint and back pain, using a LightCycler 480 II Real-Time PCR thermal cycler. The Genes-4U was applied for studying HLA-B27 mutation, and the Tib-Molbiol commercial kit was used to examine the CYP2D6*4 mutation. Among the 249 patients, 18.5% had ... more

S. Sahin; L. Aydogan; I. Benli; H. Ozyurt
12/12/2011
Association; Cattle; Genotypic frequencies; meat quality; Mutation; Myogenic factor 5

Qualitative trait loci (QTL) for growth and meat quality traits in cattle (Bos taurus) have been previously mapped to three chromosome regions, 0 to 30, 55 to 70, and 70 to 80 cM on chromosome 5. We evaluated the allele frequencies and gene-specific single nucleotide polymorphisms (SNPs) of bovine myogenic factor 5 (MyF-5) in the QTL regions and their associations with live ... more

J.A. Ujan; L.S. Zan; S.A. Ujan; C. Adoligbe; H.B. Wang
08/26/2011
Alu; GFP; Mutation; Stem-loop; SV40 PolyA

Our previous studies have shown that tandem Alu repeats inhibit green fluorescent protein (GFP) gene expression when inserted downstream of the GFP gene in the pEGFP-C1 vector. We found that the 22R sequence (5'-GTGAAAAAAATGCTTTATTTGT-3') from the antisense PolyA (240 bp polyadenylation signal) of simian virus 40, eliminated repression of GFP gene expression when inserted between ... more

H.G. Wang; X.F. Wang; X.Y. Jing; Z. Li; Y. Zhang; Z.J. Lv
02/08/2011
COL1A1; COL1A2; Heredity; Mutation; Osteogenesis imperfecta

Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype. Although there have been many reports of COL1A1 and COL1A2 mutations, few cases have been reported in Chinese people. We report on five unrelated families and ... more

Z. Yang; Z.F. Ke; C. Zeng; Z. Wang; H.J. Shi; L.T. Wang
12/07/2010
Gamma radiation; Mutation; SSCP; Vitis vinifera L.

The effects of induced mutation produced by five different doses of gamma irradiation (20, 25, 30, 40, and 45 Gy) were determined using molecular approaches in Vitis vinifera cultivars, namely Thompson Seedless (Sultani Çekirdeksiz) (progenitor of seedless vinifera variety) and Kalecik Karası (one of the best quality wine grape variety of Turkey). Mutant candidates were ... more

D. Karataş; B. Kunter; G. Coppola; R. Velasco
01/18/2011
Bladder carcinoma; DNA sequencing; Fibroblast growth factor receptor 3; Mutation; PCR; Transitional cell carcinoma

Bladder cancer is the most frequent cancer of the urinary system. Fibroblast growth factor receptors (FGFR) belong to the tyrosine kinase family and have important roles in cell differentiation and proliferation and embryogenesis. FGFR3 is located on chromosome 4p16.3, and missense mutations of FGFR3 are associated with autosomal dominant human skeletal disorders and ... more

Y. Dodurga; N.L. Satiroglu-Tufan; C. Tataroglu; Z. Kesen

Pages