Results 201 to 210 of about 16,338 (222)

EXT1 regulates chondrocyte proliferation and differentiation during endochondral bone development

Bone, 2005
Multiple Hereditary Exostoses (MHE) is an autosomal dominant skeletal disorder most frequently caused by mutations in the EXT1 gene. MHE affects proper development of endochondral bones, such that all affected individuals present with exostoses adjacent to the growth plate of long bones, while some individuals exhibit additional bone deformities.
Matthew J, Hilton, Laura, Gutiérrez, Daniel A, Martinez, Dan E, Wells   +3 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

Mutation Screening for the EXT1 and EXT2 Genes in Chinese Patients with Multiple Osteochondromas

Archives of Medical Research, 2013
Multiple osteochondromas (MO), an autosomal dominant skeletal disease, is characterized by the presence of multiple cartilage-capped bone tumors (exostoses). Two genes with mutations that are most commonly associated with MO have been identified as EXT1 and EXT2, which are Exostosin-1 and Exostosin-2.
Qing-lin, Kang, Jia, Xu, Zeng, Zhang, Jin-wei, He, Wen-zhen, Fu, Zhen-lin, Zhang   +5 more
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

[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

Tumor promotion or suppression: Revisiting the role of EXT1 and Heparan sulfate.

Histology and histopathology
Heparan sulfate (HS), a linear sulfated polysaccharide attached to proteoglycans, modulates the availability and activity of growth factors and cytokines to regulate cell signaling, adhesion, and migration. Exostosin-1 (EXT1), a key glycosyltransferase for HS chain elongation, is increasingly implicated in cancer development and progression.
Ayumi, Niwa, Hiroyuki, Tomita, Akira, Hara   +2 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

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

Medicina (Lithuania), 2023
Hafsah Muhammad, Muhammad Nasir, Salman Akbar Malik   +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