Case Report

Related GMR Articles

01/25/2011
Gene; Mutation; TSC1; Tuberous sclerosis complex

Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed subependymal nodules along the lateral walls of the ... more

G.X. Wang; D.W. Wang; J.S. Zhao; S.F. Wang; R.P. Sun
11/22/2013
Biomarker; Mutation; Myelodysplastic syndromes; Refractory cytopenias with multilineage dysplasia; TET2

Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and somatic mutations in TET2, a gene involved in epigenetic ... more

D.F. Coutinho; C. Diniz; R.L.D. Filgueiras; R.L.R. Baptista; J.P. Ayres-Silva; B.C.R. Monte-Mór; M.H. Bonamino; I.R. Zalcberg
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
05/05/2009
Glucokinase; Jordanian; MODY2; Mutation

Maturity-onset diabetes of the young type 2 (MODY2) is a genetic form of diabetes mellitus caused by mutations in the glucokinase gene (GCK). We assessed the frequency of GCK gene mutations in Jordanian suspected MODY2 patients. We screened exons 7, 8 and 9, which are specific for pancreatic glucokinase, for mutations at positions 682A>G, p.T228A; 895G>C, p.G299R, and ... more

R. Khalil; F. Al-Sheyab; E. Khamaiseh; M.A. Halaweh; H.A. Abder-Rahman
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

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