Research Article

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Amenorrhea; FGFR1; Mutation; Normosmic idiopathic hypogonadotropic hypogonadism

Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed ... more

X.L. Wang; D.D. Wang; J.Q. Gu; N. Zhang; Z.Y. Shan
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
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

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