Research Article

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12/29/2015
ATP2C1; Hailey-Hailey disease; Mutation

Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we examined four familial and two sporadic cases and searched for case reports and papers by using the ... more

L. Meng; Y. Gu; X.F. Du; M.H. Shao; L.L. Zhang; G.L. Zhang; X.L. Wang
12/29/2015
12:i:-; 5; Flagellar phase variation; fljBA operon; Mutation; Salmonella enterica; Serovar 4; λ-red

Salmonella enterica subsp enterica serovar 4,5,12:i:- has been responsible for many recent Salmonella outbreaks worldwide. Several studies indicate that this serovar originated from S. enterica subsp enterica serovar Typhimurium, by the loss of the flagellar phase II gene (fljB) and adjacent sequences. However, at least two different ... more

M.P.O. Tomiyama; C.H. Werle; G.P. Milanez; D.B. Nóbrega; J.P. Pereira; A.P. Calarga; F. Flores; M. Brocchi
11/23/2015
ATL1; Hereditary spastic paraplegia; Mutation; SPAST; X-linked dominant

We studied four Chinese families with pure hereditary spastic paraplegia (HSP) to investigate the clinical features and associated genetic mutations. Linkage analysis was performed for all families to map the disease locus onto autosomal chromosomes, and related loci involved in HSP on the X chromosome were also examined. Polymerase chain reaction (PCR) sequencing was used to detect gene ... more

N. Zhao; Y. Sui; X.F. Li; W. Liu; Y.P. Lu; W.H. Feng; C. Ma; Y.W. Wang; H.X. Bao; F. Huang; H. Wang; D.X. Yi; W.T. Han; M. Jiang
11/19/2015
Mutation; Phenylalanine hydroxylase gene; Phenylketonuria; Prenatal diagnosis

The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons and exon-intron boundaries of the ... more

N. Liu; X.D. Kong; D.H. Zhao; Q.H. Wu; X.L. Li; H.F. Guo; L.X. Cui; M. Jiang; H.R. Shi
03/11/2016
male; Mutation; Polymerase chain reaction; Steroid-resistant nephrotic syndrome; WT1

Mutations in the Wilms’ tumor gene, WT1, can lead to syndromic steroid-resistant nephrotic syndrome and isolated steroid-resistant nephrotic syndrome. WT1 mutations have been identified in the majority of children with Denys-Drash or Frasier syndrome. WT1 mutations have not previously been identified in boys with sporadic isolated steroid-resistant nephrotic ... more

Y. Yang; F. Zhao; X. Tu; Z. Yu; Y. Yang; F. Zhao; X. Tu; Z. Yu
11/03/2016
Keratoconus; Mutation; Next-generation sequencing; VSX1

The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus (KC). The patient group consisted of 44 patients who had undergone corneal transplant surgery before the age of 30, for advanced and rapidly progressive KC. The control group comprised 250 healthy individuals. We ... more

H. Bardak; M. Gunay; E. Yildiz; Y. Bardak; B. Gunay; H. Ozbas; O. Bagci
2016 Dec 19
Adult; Arginine; Asians; Case-control studies; Collagen Type IX; Female; Genetic predisposition to disease; Glutamine; Humans; Intervertebral disc degeneration; Intervertebral Disc Displacement; male; Middle Aged; Mutation

Intervertebral disc disease is a multifactorial condition, yet disease pathogenesis that can be promoted by a single dominant mutation affecting the expression of susceptibility genes. We performed a case-control study to assess the influence of the COL9A2 Gln326Arg polymorphism on risk of intervertebral disc disease in a Chinese population. Between March 2014 and March 2015, a total of 215 ... more

T. Meng; Q. Ren; J.M. Wang; H. Shi; S.T. Zhang; M.T. Liu
2016 Dec 19
Brazil; Cystic fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Early Diagnosis; Gene flow; Gene frequency; Genetic counseling; Healthy Volunteers; Humans; Mutation; Whites

The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency have been recorded across different areas of Brazil. This study aimed to compare the distribution of ΔF508 among healthy individuals of admixed Portuguese descent from Espírito Santo (ES), a state in Southeastern Brazil, to that in a ... more

A.M. Lanes; L.S. Louro; D.P. Ventorim; E. Stur; F.M. Garcia; L.P. Agostini; L.N.R. Alves; R.S. Reis; I.D. Louro; R.S. Dettogni
12/23/2016
Comparative genomic hybridization; DNA Copy Number Variations; Gamma rays; Gene expression; Genetic association studies; Mutation; Oryza; Phenotype

Comparative genomic hybridization (CGH) is a powerful tool used to analyze changes in copy number, polymorphisms, and structural variations in the genome. Gene copy number variation (CNV) is a common form of natural diversity in the genome, which can create new genes and alter gene structure. Thus, CNVs may influence phenotypic variation and gene expression. In this study, to detect CNVs, we ... more

J.E. Hwang; S.H. Kim; I.J. Jung; S.M. Han; J.W. Ahn; S.J. Kwon; S.H. Kim; S.Y. Kang; D.S. Kim; J.B. Kim
12/23/2016
Fruit; Gene expression profiling; Gene Expression Regulation, Plant; Mutation; Prunus persica; Transcriptome

Fruit ripening is a complex developmental process, the details of which remain largely unknown in fleshy fruits. In this paper, the fruit flesh of two peach varieties, "Zhongyou9" (a nectarine; Prunus persica L. Batsch) and its mutant "Hongyu", was analyzed by RNA-seq technology during two stages of ripening at 20-day intervals. One hundred and eighty significant upregulated and two hundred ... more

H.F. Pan; Y. Sheng; Z.H. Gao; H.L. Chen; Y.J. Qi; X.K. Yi; G.H. Qin; J.Y. Zhang

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