Investigating the role of heparin sulfate proteoglycans in hereditary multiple exostoses (HME) tumourigenesis
نویسندگان
چکیده
منابع مشابه
Hereditary multiple exostoses and heparan sulfate polymerization.
Hereditary multiple exostoses (HME, OMIM 133700, 133701) results from mutations in EXT1 and EXT2, genes encoding the copolymerase responsible for heparan sulfate (HS) biosynthesis. Members of this multigene family share the ability to transfer N-acetylglucosamine to a variety of oligosaccharide acceptors. EXT1 and EXT2 encode the copolymerase, whereas the roles of the other EXT family members (...
متن کاملRadiographic Analysis of the Pediatric Hip Patients With Hereditary Multiple Exostoses (HME).
BACKGROUND This study aimed to report the radiographic presentation of involved hips in children with hereditary multiple exostoses (HME). This included radiographic hip measurements, osteochondromas location, and relationship with hip subluxation. METHODS Anteroposterior pelvis radiographs of children with HME, seen between 2003 and 2014, were retrospectively reviewed. Only patients who were...
متن کاملThe Genetics of Hereditary Multiple Exostosis (HME)
Introduction Hereditary multiple exostosis (HME) is a skeletal disorder characterized by the presence of numerous bony outgrowths (osteochondromas or exostoses) that develop next to the growth plates of all the long bones (Solomon 1963). The most striking clinical feature of HME is the numerous cartilage-capped exostoses, which are associated with the entire skeleton. Skeletal surveys suggest t...
متن کاملHereditary multiple exostoses.
Hereditary multiple exostoses (HME) is a skeletal disorder which primarily affects enchondral bone during growth. It is characterised by multiple exostoses, usually arising in the juxtaepiphyseal region of the long bones. Exostoses that affect "almost every bone in the body" were first mentioned by John Hunter in his Lectures on the principles of surgery in 1786.1 The first family affected by H...
متن کاملManifestations of hereditary multiple exostoses.
The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family, resulting in an error in the regulation of normal chondrocyte proliferation and maturation that leads to abnormal bone...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: International Journal of Experimental Pathology
سال: 2004
ISSN: 0959-9673
DOI: 10.1111/j.0959-9673.2004.390an.x