Results 141 to 150 of about 3,991 (155)

EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis

Skeletal Radiology, 2011
Metachondromatosis (MC) and hereditary multiple osteochondromas (HMO) are thought to be distinct disorders, each with characteristic x-ray and clinical features. Radiographic differences are the current mainstay of differential diagnosis. Both disorders are autosomal dominant, but the majority of patients with HMO have mutations in EXT-1 or EXT 2 genes.
Neil C, Vining, Stephen, Done, Ian A, Glass, Shawn E, Parnell, Darci L, Sternen, Kathleen A, Leppig, Vincent S, Mosca, Michael J, Goldberg   +7 more
openaire   +2 more sources

EXT2 File System

2018
This chapter covers EXT2 file system. The goal of this chapter is to lead the reader to implement a complete EXT2 file system that is totally Linux compatible. The premise is that if the reader understands one file system well, it should be easy to adapt to any other file systems.
openaire   +1 more source

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

Human Mutation, 2000
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of exostoses, which are cartilage-capped bony protuberances mainly located on long bones. Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation of exostoses.
W, Wuyts, W, Van Hul
openaire   +2 more sources

[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

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

Nature Genetics, 1996
Hereditary multiple exostoses (EXT) is an autosomal dominant condition characterized by short stature and the development of bony protuberances at the ends of all the long bones. Three genetic locl have been identified by genetic linkage analysis at chromosomes 8q24.1, 11p11-13 and 19p.
D, Stickens, G, Clines, D, Burbee, P, Ramos, S, Thomas, D, Hogue, J T, Hecht, M, Lovett, G A, Evans   +8 more
openaire   +2 more sources

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