Research Article

Related GMR Articles

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
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
01/22/2014
BRAF V600E; Cutaneous melanoma; MAPK; Mutation

BRAF V600E is the most common mutation in cutaneous melanomas, and has been described in 30-72% of such cases. This mutation results in the substitution of valine for glutamic acid at position 600 of the BRAF protein, which consequently becomes constitutively activated. The present study investigated the BRAF V600E mutation frequency and its clinical implications in a ... more

J.S.S. Inumaru; K.I.F. Gordo; A.C.Fraga Junior; A.M.T.C. Silva; C.B.Q.S. Leal; F.M. Ayres; I.J. Wastowski; N.F. Borges; V.A. Saddi
03/24/2014
Mutation; TSC1 gene; TSC2 gene; Tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090- ... more

C.R. Mi; H. Wang; H. Jiang; R.P. Sun; G.X. Wang
03/24/2014
DLK2 gene; Growth and meat traits; Mutation; Polymorphisms; Qinchuan cattle

The delta-like 2 homolog (DLK2) modulates adipogenesis, hematopoiesis, osteogenesis, and other cell-differentiation processes. In the present study, we detected potential polymorphisms in the DLK2 gene in 604 individuals of Qinchuan cattle by using PCR-RFLP and DNA-sequencing methods. Herein, we identified five novel single-nucleotide polymorphisms (SNPs) (g.888G>A, g.910A> ... more

N. Yang; L.S. Zan; Y.K. Li; J.B. Gao; X.H. Ma; C.Z. Fu; H. Wang; C. Adoligbe
02/20/2014
Antioxidant; Inflammation; Mutation; Oxidative stress; Polymorphism; Small bowel

Celiac disease (CD) is a multifactorial, inflammatory small bowel disorder characterized by nutrient malabsorption resulting from mucosal damage, the latter induced by cereal products like barley, oat, and wheat. Oxidative stress has previously been reported to play an important role in the pathogenesis of CD. In the present study, we aimed to evaluate the frequency of polymorphisms that ... more

M. Katar; A.F. Ozugurlu; H. Ozyurt; I. Benli
01/31/2014
BRCA1 gene; Breast cancer; Clinical samples; Exon sequencing; Mutation

Germline mutations in the BRCA1 gene are known predictive markers for the development of hereditary breast cancer. Nevertheless, no comprehensive study has been performed targeting the presence and relevance of BRCA1 mutations in Moroccan breast cancer patients. We here present an analysis of BRCA1 gene regions (exon 2 and exon 11a/b) of 50 female Moroccan breast cancer ... more

A. Tazzite; S. Nadiffi; D. Kottwitz; E. Amrani; H. Jouhadi; A. Benider; A. Moumen; H. Sefrioui
04/27/2015
Ectopia lentis; Exon; FBN1; Marfan syndrome; Mutation

The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). Seventeen members from a Chinese family of 4 generations were included in the study. All members underwent complete ophthalmic examination. Molecular genetic analysis was performed on all subjects. ... more

Y. Yin; X.H. Liu; X.H. Li; N. Fan; D.F. Lei; Y. Wang; S.P. Cai; X.M. Zhou; X.M. Chen; X.Y. Liu
04/15/2015
Exons; Mutation; Non-syndromic cleft of the lip and/or palate; PVRL1

Non-syndromic cleft of the lip and/or palate (NSCLP) is a very common birth defect; the poliovirus receptor-like 1 gene (PVRL1) has been identified as a genetic risk factor for NSCLP in patients from Norway, the Philippines, and South America. Given the considerable variation in allele frequencies across these geographical regions, this study explored the relationship between ... more

S.Y. Shu; M.J. Zhang; H.Q. Cheng; S.J. Tang; W.L. Chen; S.R. Wu; Y. Lin; Q.S. Chen
03/30/2015
Breeding; Cucumber; Germination; Mutation; Seedlings; Weight

We attempted to create a new germplasm of cucumber cultivar Chinese long (9930) using different doses of ethyl methyl sulfonate (EMS) to induce variability. We tested EMS concentration (0, 0.5, 1.0, 1.5, 2, 3% v/v) with post-treatment (0.1 M Na2S2O3 and water), EMS concentration (0, 0.5, 1.0, 1.5% v/v) over different treatment times (8, 16, 24 h), and EMS ... more

S.N.M. Shah; Z.H. Gong; M.H. Arisha; A. Khan; S.L. Tian

Pages