(Q34162459)

31 July 2017

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas (English)

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31 July 2017

0 references

1 reference

Karoly Szuhai

8

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Marcel Karperien

9

object named as

Marcel Karperien

1 reference

ORCID Public Data File 2021

31 July 2017

1 reference

Pancras C.W. Hogendoorn

10

object named as

Pancras C W Hogendoorn

1 reference

31 July 2017

Christianne M A Reijnders

1

1 reference

31 July 2017

Cathelijn J F Waaijer

2

1 reference

31 July 2017

Andrew Hamilton

3

1 reference

31 July 2017

Emilie P Buddingh

4

1 reference

31 July 2017

Sander P D Dijkstra

5

1 reference

31 July 2017

John Ham

6

1 reference

31 July 2017

Egbert Bakker

7

1 reference

31 July 2017

Sally E Stringer

11

1 reference

31 July 2017

Judith V M G Bovée

12

1 reference

31 July 2017

language of work or name

English

0 references

publication date

2 September 2010

1 reference

The American Journal of Pathology

31 July 2017

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31 July 2017

177

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31 July 2017

4

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31 July 2017

1946-1957

1 reference

describes a project that uses

31 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2947289/fullTextXML

inferred from PubMed Central ID database lookup

cites work

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Organ-specific heparan sulfate structural phenotypes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

5 July 2018

Multiple osteochondromas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

VEGF165-binding sites within heparan sulfate encompass two highly sulfated domains and can be liberated by K5 lyase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Mice deficient in Ext2 lack heparan sulfate and develop exostoses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Not all perlecans are created equal: interactions with fibroblast growth factor (FGF) 2 and FGF receptors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Spatial and temporal changes in the expression of fibroglycan (syndecan-2) during mouse embryonic development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Mutation and cancer: statistical study of retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Genomic profiling of chondrosarcoma: chromosomal patterns in central and peripheral tumors.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Peripheral chondrosarcoma progression is accompanied by decreased Indian Hedgehog signalling.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

A unique role for 6-O sulfation modification in zebrafish vascular development

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Embryonic fibroblasts with a gene trap mutation in Ext1 produce short heparan sulfate chains

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Three Drosophila EXT genes shape morphogen gradients through synthesis of heparan sulfate proteoglycans

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Structural analysis of glycosaminoglycans in Drosophila and Caenorhabditis elegans and demonstration that tout-velu, a Drosophila gene related to EXT tumor suppressors, affects heparan sulfate in vivo

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947289

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

28 October 2018

1 reference

12 December 2020

A method for the determination of the molecular weight and molecular-weight distribution of chondroitin sulphate

1 reference

12 December 2020

Loss of heterozygosity and DNA ploidy point to a diverging genetic mechanism in the origin of peripheral and central chondrosarcoma

1 reference

12 December 2020

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

1 reference

12 December 2020

EXT1 regulates chondrocyte proliferation and differentiation during endochondral bone development

1 reference

12 December 2020

The use of Bcl-2 and PTHLH immunohistochemistry in the diagnosis of peripheral chondrosarcoma in a clinicopathological setting

1 reference

12 December 2020

Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients

1 reference

12 December 2020

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous Deletions

1 reference

12 December 2020

Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations

1 reference

12 December 2020

Up-regulation of PTHrP and Bcl-2 expression characterizes the progression of osteochondroma towards peripheral chondrosarcoma and is a late event in central chondrosarcoma

1 reference

12 December 2020

Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis

1 reference

12 December 2020

10.2353/AJPATH.2010.100296

Identifiers

DOI

1 reference

31 July 2017

1 reference

31 July 2017

1 reference