Associated Papers
Structural basis for heparan sulfate co-polymerase action by the EXT1-2 complex.
Li H et al.
Nature Chemical Biology, 2023
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang A et al.
Annals of Human Genetics, 2019
A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses.
Guo X et al.
International Journal of Oncology, 2019
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
Gentile M et al.
Clinical Genetics, 2019
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.
Santos SCL et al.
Molecular Genetics & Genomic Medicine, 2018
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
Ishimaru D et al.
Bmc Genetics, 2016
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
Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.
Pei Y et al.
Genetic Testing and Molecular Biomarkers, 2010
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
Heinritz W et al.
Annals of Human Genetics, 2009
Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation.
Busse M et al.
The Journal of Biological Chemistry, 2007
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
Lonie L et al.
Human Mutation, 2006
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
Wuyts W et al.
Clinical Genetics, 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
Genotype-phenotype correlation in hereditary multiple exostoses.
Francannet C et al.
Journal of Medical Genetics, 2001
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.
Bernard MA et al.
Cell Motility and the Cytoskeleton, 2001
Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations.
Bernard MA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2000
Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.
Kobayashi S et al.
Biochemical and Biophysical Research Communications, 2000
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
Dobson-Stone C et al.
European Journal of Human Genetics : Ejhg, 2000
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Wuyts W et al.
Human Mutation, 2000
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