Results 161 to 170 of about 12,622 (181)

[Molecular cloning of EXT2 and EXT4 gene].

Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University, 2000
Hereditary multiple exostose(EXT) is an autosomal dominant disorder of skeletal system. Three genetic loci have been identified at 8q24.1(EXT1), 11p11(EXT2) and 19p(EXT3) respectively. In this paper, EXT2 gene was cloned with positional cloning and homologous screening. SSCP and sequencing analysis have been done in 37 EXT patients who came from 20 EXT
H, Deng, L, Xu, Q, Ruan, L, Huang, J, Xia   +4 more
openaire   +1 more source

Association of EXT1 and EXT2, Hereditary Multiple Exostoses Gene Products, in Golgi Apparatus

Biochemical and Biophysical Research Communications, 2000
We prepared the specific antibodies for EXT1 and EXT2, hereditary multiple exostoses (HME) gene products, and characterized their expression, subcellular localization, and protein association among EXT members. Biochemical analyses indicate that EXT1 and EXT2 can associate and form homo/hetero-oligomers in vivo with or without HME-linked mutations ...
S, Kobayashi, K, Morimoto, T, Shimizu, M, Takahashi, H, Kurosawa, T, Shirasawa   +5 more
openaire   +2 more sources

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

Journal of Genetics, 2015
The purpose of this study was to perform genetic screening of the exostosin 1 (EXT1) and exostosin 2 (EXT2) genes in Cypriot patients with a clinical diagnosis of hereditary multiple osteochondromas (HMO). Initially, mutation analysis of the EXT1 gene was performed by Sanger sequencing.
TANTELES, GEORGE A., NICOLAOU, MICHAEL, NEOCLEOUS, VASSOS, SHAMMAS, CHRISTOS, LOIZIDOU, MARIA A., ALEXANDROU, ANGELOS, ELLINA, ELENA, PATSIA, NASIA, SISMANI, CAROLINA, PHYLACTOU, LEONIDAS A., CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA   +10 more
openaire   +2 more sources

Ulna/Height Ratio as Clinical Parameter SeparatingEXT1fromEXT2Families?

Genetic Testing, 2008
Multiple osteochondromas (MO) is an autosomal-dominant inherited disorder. The two genes responsible (EXT1 and EXT2) have been identified. We investigated 12 MO families for phenotype details and the genetic basis by cosegregation and mutation analysis (seven novel pathogenic mutations [five frameshift, one splice site, and one gross deletion] and one ...
Barbara, Leube, Karin, Hardt, Sebastian, Portier, Bettina, Westhoff, Marcus, Jäger, Rüdiger, Krauspe, Brigitte, Royer-Pokora   +6 more
openaire   +2 more sources

[Identification of mutations in the human EXT1 and EXT2 genes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 1999
To investigate further the genetic basis of hereditary multiple exostoses (EXT) and provide useful information for gene diagnosis of the disease.Polymerase chain reaction-single strand conformation polymorphism was used to examine the entire coding regions of EXT(1) gene on chromosome 8 and EXT(2) gene on chromosome 11 for mutation in thirty EXT ...
G, Song, J, Zhou, J, Xia, H, Deng, L, Xu, Q, Ruan   +5 more
openaire   +1 more source

[The EXT2 gene mutation in a family with hereditary multiple exostoses].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2010
To identify the gene causing hereditary multiple exostoses in a Chinese pedigree.Linkage analysis was carried out in the family using microsatellite markers close linkage to the EXT1 and EXT2 genes to define the candidate gene. Then the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced.The disease ...
Feng, Yao, Yingtai, Wang, Shixiu, Liao, Li, Wang, Tao, Wang, Bing, Kang   +5 more
openaire   +1 more source

An R223P mutation in EXT2 gene causes hereditary multiple exostoses

Human Mutation, 2000
Y R, Shi, J Y, Wu, F J, Tsai, C C, Lee, C H, Tsai   +4 more
openaire   +2 more sources

[A new EXT2 mutation in a Chinese family with hereditary multiple exostoses].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by formation of benign cartilage-capped tumors (exostoses), typically located at the juxtaepiphyseal regions of long bones. It is genetically heterogeneous with at least three chromosomal loci: EXT1 on 8q24.1, EXT2 on 11p11, and EXT3 on 19p.
Wen-qiu, Zhao, Shu-juan, Song, Qing, Wei, Jie, Qiao   +3 more
openaire   +1 more source

[Mutation analysis of EXT2 gene in a family with hereditary multiple exostosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2015
To investigate EXT1 and EXT2 genes mutations in a family with hereditary multiple osteochondromas (HME).A four-generation family with HME from Linyi city of Shandong Province was studied. There were 6 affected individuals among the 17 family members. Physical examination and radiographical evaluations were carried out for all family members.
Lin, Li, Xiao, Li, Yongchao, Liu, Shuqi, Zheng, Jixia, Zhang, Qiji, Liu, Xueyuan, Heng   +6 more
openaire   +1 more source

Insights into the Peritumoural Brain Zone of Glioblastoma: CDK4 and EXT2 May Be Potential Drivers of Malignancy

International Journal of Molecular Sciences, 2023
Martina Giambra, Andrea Di Cristofori, Donatella Conconi   +2 more
exaly