Research Article

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04/03/2012
meat quality; Mutation; Ryanodine receptor protein; SNP

Some genes affect meat quality in chickens. We looked for polymorphisms in the Gallus gallus α-RyR gene (homologous to RyR 1) that could be associated with PSE (pale, soft and exudative) meat. Because RyR genes are over 100,000 bp long and code for proteins with about 5000 amino acids, primers were designed to amplify a fragment of hotspot region 2, a region with a high density ... more

A.A. Droval; E. Binneck; S.R.R. Marin; F.G. Paião; A. Oba; A.L. Nepomuceno; M. Shimokomaki
11/14/2014
CYLD; Mutation; Trichoepithelioma

Trichoepithelioma is a benign neoplasm that primarily shows follicular germinative differentiation. Classic trichoepithelioma typically presents as a skin-colored papule or nodule on the face or upper trunk; lesions have a predilection for the nose. Trichoepithelioma can be sporadic or familial and solitary or multiple. Most previously reported multiple trichoepithelioma cases are ... more

Z.L. Li; H.H. Guan; X.M. Xiao; Y. Hui; W.X. Jia; R.X. Yu; H. Chen; C.R. Li
11/11/2014
Immunosuppressive agents; Mutation; Podocyte genes; Steroid treatment; Steroid-resistant nephrotic syndrome

Recent studies have demonstrated that mutations in 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1, are associated with the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). Systematic investigation of all 4 genes for sporadic SRNS in China has not been performed. We examined 10 Chinese children with sporadic SRNS who showed no response to ... more

D.N. Feng; Y.H. Yang; D.J. Wang; D.C. Meng; R. Fu; J.J. Wang; Z.H. Yu
11/11/2014
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

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