Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.

Receptor FGFRL1 acts as a tumor suppressor in nude mice when overexpressed in HEK 293 Tet-On cells. Oncol Lett (2016) 0.75

SMART, a simple modular architecture research tool: identification of signaling domains. Proc Natl Acad Sci U S A (1998) 36.83

Order out of chaos: assembly of ligand binding sites in heparan sulfate. Annu Rev Biochem (2001) 7.87

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet (1991) 3.48

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat (2003) 2.55

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A (2000) 2.30

Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice. Dev Biol (2000) 2.14

Mice deficient in Ext2 lack heparan sulfate and develop exostoses. Development (2005) 1.84

Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (2010) 1.72

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat (2009) 1.61

The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis. EMBO Rep (2000) 1.41

Structure/function studies of glycosyltransferases. Curr Opin Struct Biol (1999) 1.39

Heparan sulphate biosynthesis and disease. J Biochem (2008) 1.22

Crystal structure of an alpha 1,4-N-acetylhexosaminyltransferase (EXTL2), a member of the exostosin gene family involved in heparan sulfate biosynthesis. J Biol Chem (2003) 1.20

Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. J Bone Joint Surg Am (2011) 1.17

Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. Biochem Biophys Res Commun (2000) 1.15

Nonsense-mediated decay in genetic disease: friend or foe? Mutat Res Rev Mutat Res (2014) 1.10

Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses. Dev Dyn (2013) 1.08

Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. Am J Med Genet (2002) 1.07

EXT1 regulates chondrocyte proliferation and differentiation during endochondral bone development. Bone (2005) 1.06

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. Am J Hum Genet (2001) 1.05

Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. Hum Mutat (2010) 1.03

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas. J Mol Diagn (2007) 0.98

Heparan sulfate proteoglycans: key players in cartilage biology. Crit Rev Eukaryot Gene Expr (2005) 0.98

Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones. Bone (2011) 0.98

Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes. Differentiation (2005) 0.94

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families. BMC Med Genet (2011) 0.82

Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas. Genes Chromosomes Cancer (2013) 0.80

Cell-cell fusion induced by the Ig3 domain of receptor FGFRL1 in CHO cells. Biochim Biophys Acta (2015) 0.78