Results 151 to 160 of about 3,263 (170)

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

Nature Genetics, 1995
Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA which spans chromosomal breakpoints
J, Ahn, H J, Lüdecke, S, Lindow, W A, Horton, B, Lee, M J, Wagner, B, Horsthemke, D E, Wells   +7 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

Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma

Cancer Genetics and Cytogenetics, 2005
Germline mutation and functional loss of EXT1 or EXT2 are commonly found in multiple osteochondromas and predispose to the development of chondrosarcoma. Mutations of EXT1 and EXT2 have rarely been detected in sporadic secondary chondrosarcomas from osteochondroma; these frequently display loss of heterozygosity at the EXT1 and EXT2 loci, but primary ...
Takashi, Tsuchiya, Toshihisa, Osanai, Akira, Ogose, Gen, Tamura, Tokuhiro, Chano, Yasuhiko, Kaneko, Akira, Ishikawa, Hiroshi, Orui, Takuro, Wada, Tatsuru, Ikeda, Masayoshi, Namba, Masaharu, Takigawa, Hiroyuki, Kawashima, Tetsuo, Hotta, Atsushi, Tsuchiya, Toshihiko, Ogino, Teiichi, Motoyama   +16 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

Multiple exostoses gene, EXT1 and heparan sulfate biosynthesis

2009
Hereditary multiple exostoses (HME), a dominantly inherited genetic disorder characterized by multiple cartilaginous tumors, is caused by mutations in members of the EXT gene family, EXT1 and EXT2. The corresponding gene products, exostosin-1 (EXT1) and exostosin-2 (EXT2) are type II transmembrane glycoproteins which form a Golgi-Iocalized hetero ...
openaire   +1 more source

EXT1 methylation promotes proliferation and migration and predicts the clinical outcome of non‐small cell lung carcinoma via WNT signalling pathway

Journal of Cellular and Molecular Medicine, 2021
Shuiliang Wang, Zongyang Yu, Xingguang Luo   +2 more
exaly  

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family

Medicina (Lithuania), 2023
Muhammad Nasir, Irfan Ullah, Hafsah Muhammad   +2 more
exaly  

A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses

Human Mutation, 2001
Y R, Shi, J Y, Wu, F J, Tsai, C C, Lee, C H, Tsai   +4 more
openaire   +2 more sources

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas

Human Mutation, 2005
Elena Pedrini, Marina Mordenti, Alessandro De Luca   +2 more
exaly  

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas

Molecular Genetics & Genomic Medicine, 2018
Isabela Rizzo
exaly