EXT2 (exostoses (multiple) 2)
نویسندگان
چکیده
منابع مشابه
Mice deficient in Ext2 lack heparan sulfate and develop exostoses.
Hereditary multiple exostoses (HME) is a genetically heterogeneous human disease characterized by the development of bony outgrowths near the ends of long bones. HME results from mutations in EXT1 and EXT2, genes that encode glycosyltransferases that synthesize heparan sulfate chains. To study the relationship of the disease to mutations in these genes, we generated Ext2-null mice by gene targe...
متن کاملA Splice Mutation and mRNA Decay of EXT2 Provoke Hereditary Multiple Exostoses
BACKGROUND Hereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME cases. However, the pathological significance of the majority of these mutations is often unclear. METHODS In a Chinese family with HME, EXT...
متن کاملSevere Multiple Cartilaginous Exostoses
Multiple cartilaginous exostoses (MCE) is one of the most common inherited skeletal disorders. A collection of 1124 cases was reported by Stock and Barrington (1925). Recently other large series have been published by Solomon (1963) and Sauer (1979). Different terms have been used for it such as multiple exostoses, hereditary multiple exostoses and diaphyseal aclasis. The swelling or "lump" are...
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: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/37861