Results 171 to 180 of about 4,149 (184)

A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas

Genetic Testing and Molecular Biomarkers, 2019
Multiple exostoses (MO), also referred to as hereditary multiple exostoses (HME), is an autosomal dominant inherited skeletal disorder that has been found to be associated with mutations in the EXT1 and EXT2 genes. In the present study, we report a Chinese family with HME and our mutational analyses of the EXT1 and EXT2 genes in affected and unaffected
Zhonghua, Chen, Qing, Bi, Mingxiang, Kong, Yu, Chen   +3 more
openaire   +2 more sources

Involvement of Ext1 and heparanase in migration of mouse FBJ osteosarcoma cells

Molecular and Cellular Biochemistry, 2012
To know the involvement of glycosaminoglycans (GAGs) in the metastasis of mouse FBJ osteosarcoma cells, N(α)-lauroyl-O-(β-D-xylopyranosyl)-L-serinamide (Xyl-Ser-C12), which initiates elongation of GAG chains using the glycan biosynthesis system in cells, was administered to FBJ cells with different metastatic capacities.
Yinan, Wang, XiaoYan, Yang, Sadako, Yamagata, Tatsuya, Yamagata, Toshinori, Sato   +4 more
openaire   +2 more sources

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

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

Ext1 regulates chondrocyte differentiation

2003
Hereditary multiple exostoses (HME) syndrome is an autosomal dominant inherited human disorder, which is characterized by the formation of multiple cartilaginous capped benign tumors (exostoses) that develop from the growth plate of endochondral bones. So far HME has been linked to missense or frameshift mutations in the tumor suppressor genes Ext1 and
Koziel, L., Kunath, M., Kelly, O., Skarnes, B., Vortkamp, A.   +4 more
openaire   +1 more source

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

The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate

Nature Genetics, 1998
Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by the formation of cartilage-capped tumours (exostoses) that develop from the growth plate of endochondral bone. This condition can lead to skeletal abnormalities, short stature and malignant transformation of exostoses to chondrosarcomas or osteosarcomas.
C, McCormick, Y, Leduc, D, Martindale, K, Mattison, L E, Esford, A P, Dyer, F, Tufaro   +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

[Novel mutation of Y271H in EXT1 gene causes multiple exostoses].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2014
To explore the disease associated gene mutation of multiple exostoses by family analysis.Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymorphism was performed to screen the mutation.We found a novel heterozygous mutation c.811T ->C in EXT1 gene ...
Wei, Li, Zheng-Mao, Hu, Zhi-Guo, Xie, Hong-Bo, He, Qian, Pan, Kun, Xia, Jia-Hui, Xia   +6 more
openaire   +1 more source

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