Research Article

Related GMR Articles

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
03/24/2014
Aniridia; Malaysian; Mutation; PAX6; PCR-HRM; Sequencing

Mutations in the PAX6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population. Therefore, the objective of this study was to investigate the PAX6 mutation in a Malaysian family with congenital aniridia. In this study, a complete ophthalmic examination was performed on a Dusun ethnic family with aniridia. Genomic DNA was ... more

P.C. Lee; H.H. Lam; S.A. Ghani; V. Subrayan; K.H. Chua
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
01/12/2010
Cleidocranial dysplasia; Gene; Mutation; RUNX2

Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles, frontal bossing, dysplasia of clavicles, late tooth eruption, and other ... more

G.X. Wang; R.P. Sun; F.L. Song
10/15/2013
Cleidocranial dysplasia; Mutation; RUNX2; Supernumerary teeth

The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal dominant skeletal dysplasia that is characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicle ... more

K.E. Lee; F. Seymen; J. Ko; M. Yildirim; E.B. Tuna; K. Gencay; J.W. Kim
08/20/2013
Calcium; Chicken; meat quality; Mutation; Porcine stress syndrome; Ryanodine receptor

The development of pale, soft, and exudative (PSE) breast fillet meat has become an economic burden for the poultry industry worldwide. PSE meat results in 1.0-1.5% loss in moisture and carcass weight, and a 2010 estimate of the Brazilian annual production put the economic loss due to PSE at over US$30 million. In the USA, PSE has caused an annual loss of up to US$200 million to the ... more

F.G. Paião; L.M. Ferracin; M. Pedrão; T. Kato; M. Shimokomaki
06/24/2013
Mexican children; Mutation; Nephrotic syndrome; Podocin

Human nephrotic syndrome has been related to mutations in glomerular proteins. Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome. It has been advised to test for NPHS2 mutations in parallel or before giving steroid treatment in nephrotic syndrome patients in order to avoid unnecessary therapy. We ... more

J.S. Carrasco-Miranda; R. Garcia-Alvarez; R.R. Sotelo-Mundo; O. Valenzuela; M.A. Islas-Osuna; N. Sotelo-Cruz
10/31/2014
Clinical characteristics; Mutation; Non-small cell lung cancer; Oncogene; Radical resection

More than 40 oncogenes associated with non-small cell lung cancer (NSCLC) have been identified with varied gene expression. The correlations between specific clinical characteristics and oncogene expression in NSCLC patients were examined. From October 2011 to September 2012, a total of 60 patients with NSCLC (male:female, 34:24; mean age, 59.5 ± 10.6 years; age range, 31-81 years) were ... more

Y. Han; D.P. Yu; S.J. Zhou; X.Y. Song; Y.S. Li; N. Xiao; Z.D. Liu; X.J. Sun; Q.Y. Zhao; S.K. Liu
10/08/2014
Isolated methylmalonic aciduria; MUT gene; Mutation; Prenatal diagnosis

Isolated methylmalonic acidemia (MMA) is a genetically heterogeneous disorder caused mainly by deficiency of methylmalonyl-CoA mutase. In the present study, we analyzed MUT gene mutations in 3 Chinese couples with a birth history of isolated MMA. We also provided prenatal diagnoses for the detected mutation. Exons and exon-intron boundaries of the MUT gene were analyzed ... more

X.D. Kong; H.R. Shi; N. Liu; Q.H. Wu; X.J. Xu; Z.H. Zhao; N. Lu; J. Li-Ling; D. Luo
07/24/2014
Mutation; Neurofibromatosis type 1; NF1 gene

This study aimed to characterize the clinical features of a Chinese pedigree with neurofibromatosis type 1 (NF1) and to identify mutations in the NF1 gene. In this three-generation family containing 8 members, 5 had been diagnosed with NF1 and the others were asymptomatic. All members of the family underwent complete medical examinations. Molecular genetic analyses were performed ... more

S.P. Cai; N. Fan; J. Chen; Z.L. Xia; Y. Wang; X.M. Zhou; Y. Yin; T.L. Wen; Q.J. Xia; X.Y. Liu; H.Y. Wang

Pages