Associated Papers
Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.
Tong Y et al.
Genetic Testing and Molecular Biomarkers, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.
Li Y et al.
Medicine, 2018
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.
Li Y et al.
Bmc Medical Genetics, 2017
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.
Guo XL et al.
Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2014
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Ciavarella M et al.
Gene, 2013
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
Sarrión P et al.
Scientific Reports, 2013
Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.
Kang Z et al.
Gene, 2012
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.
Vink GR et al.
European Journal of Human Genetics : Ejhg, 2005
The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.
Duncan G et al.
The Journal of Clinical Investigation, 2001
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
Cheung PK et al.
American Journal of Human Genetics, 2001
Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants.
Wei G et al.
The Journal of Biological Chemistry, 2000
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.
McCormick C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2000
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Wuyts W et al.
Human Mutation, 2000
The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.
McCormick C et al.
Nature Genetics, 1998
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts W et al.
American Journal of Human Genetics, 1998
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.
Philippe C et al.
American Journal of Human Genetics, 1997