Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes

Cell Motility and the Cytoskeleton

Volumn 48, Issue 2, 2001, Pages 149-162

  Bernard, Mark A ^a,b   Hall, Catherine E ^a,c,d   Hogue, Deborah A ^a,e,f   Cole, William G ^a,f   Scott, Allison ^a,b,c   Snuggs, Mark B ^a   Clines, Gregory A ^a,b,c   Lüdecke, Hermann Josef ^a   Lovett, Michael ^a,b,c   Van Barry Winkle, W ^a   Hecht, Jacqueline T ^a,b  

^a UNIVERSITY OF TEXAS   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c Shriners Hospital for Children   (United States)

^d UNIVERSITY OF TEXAS AT DALLAS   (United States)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

^f WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

actin; Cytoskeleton; Exostosis chondrocyte; EXT1 EXT2 antibodies; Hereditary multiple exostoses (HME); Mutations

Indexed keywords

GENE PRODUCT; PROTEIN EXT1; PROTEIN EXT2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARTILAGE CELL; CHONDROSARCOMA; CHROMOSOME 21; CLINICAL ARTICLE; CONTROLLED STUDY; ENCHONDRAL OSSIFICATION; GENE DELETION; GENE MUTATION; HEREDITARY MULTIPLE EXOSTOSIS; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; INTRON; MULTIGENE FAMILY; PRIORITY JOURNAL; PROTEIN DETERMINATION; SIGNAL PROCESSING; STRAIN DIFFERENCE; TUMOR SUPPRESSOR GENE;

ACTINS; ANTIBODIES; BONE NEOPLASMS; CELLS, CULTURED; CHONDROCYTES; CYTOSKELETON; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, NEOPLASM; EXOSTOSES, MULTIPLE HEREDITARY; GERM-LINE MUTATION; HUMANS; IMMUNOENZYME TECHNIQUES; INTRONS; LOSS OF HETEROZYGOSITY; MICROSCOPY, PHASE-CONTRAST; N-ACETYLGLUCOSAMINYLTRANSFERASES; PROTEINS;

EID: 0035144982     PISSN: 08861544     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0169(200102)48:2<149::AID-CM1005>3.0.CO;2-3     Document Type: Article

References (48)

1. Cloning of the putative tumor suppressor gene for hereditary multiple exostoses (EXT1)
2. EXTL3/EXTR1 alterations in colorectal cancer cell lines
3. Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations
4. Analysis of mutations in the SCH gene in schwannomas
5. EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas
6. Loss of heterozygosity and DNA ploidy point to a diverging genetic mechanism in the origin of peripheral and central chondrosarcoma
7. Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas
8. Benign and malignant cartilage tumors of bone and joint: Their anatomic and theoretical basis with an emphasis on radiology, pathology and clinical biology. II. Juxtacortical cartilage tumors
9. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma
10. Single-step method of RNA isolation by acid guanidium thiocyanate phenol chloroform extraction
11. Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia
12. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
13. Expression of the heparan sulfate proteoglycan, perlecan, during mouse embryogenesis and perlecan chondrogenic activity in vitro
14. Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8
15. Hereditary multiple exostoses (EXT): Mutational studies of familial EXT1 cases and EXT-associated malignancies
16. A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: Use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)
17. Exon scanning for mutation of the NF2 gene in schwannomas
18. Frequency and distribution of NF2 mutations in schwannomas
19. The tumor suppressor EXT-like gene EXTL2 encodes an α1,4-N-acetylhexosaminyl-transferase that transfers N-acetylgalactosamine and N-acetyl-glucosamine to the common glycosaminoglycan-protein linkage region: The key enzyme for the chain initiation of heparan sulfate
20. Mutation and cancer: Statistical study of retinoblastoma
21. Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus
22. The tricho-rhinophalangeal syndrome with exostoses (or Langer-Giedion syndrome): Four additional patients without mental retardation and review of the literature
23. A gene for hereditary multiple exostoses maps to chromosome 19p
24. The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate
25. Molecular dissection of a contiguous; gene syndrome: Localization of the genes involved in the Langer-Giedion syndrome
26. The putative tumour suppressors EXT1 and EXT2 form a complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate
27. The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate
28. Benign cartilaginous exostoses: Osteochondroma and osteochondromatosis
29. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhinophalangeal syndrome type I
30. Relationship between loss of heterozygosity of tumor suppressor genes and histologic differentiation in hepatocellular carcinoma
31. Loss of heterozygosity in chondrosarcoma for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11
32. Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family
33. DNA sequencing with chain-terminating inhibitors
34. Confirmation of a double-hit model for the NF1 gene in benign neurofibromas
35. The natural history of hereditary multiple exostoses
36. Hereditary multiple exostoses: Clinicopathologic features of a comparative study in horses and man
37. Bone growth in diaphysial aclasis
38. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
39. Tarso-epiphysial aclasis: A congenital error of epiphyseal development
40. Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family
41. Natural history study of hereditary multiple exostoses
42. Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family
43. Identification and characterization of a novel member of the EXT gene family, EXTL2