A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses

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A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses is …
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scholarly articleQ13442814

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P356DOI10.3892/IJO.2019.4688
P932PMC publication ID6365038
P698PubMed publication ID30664192

P2093author name stringWei Yan
Xiaoyan Guo
Mingrui Lin
Wenxu Chen
Guolin Hong
P2860cites workMultiple osteochondromasQ21202906
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfateQ22011093
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)Q24308316
Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongationQ24338759
Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodQ25938999
Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatusQ28144930
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesQ28145024
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genesQ28288396
The neoplastic pathogenesis of solitary and multiple osteochondromasQ30579100
A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.Q33719846
Efficient transduction of myeloid cells by an HIV-1-derived lentiviral vector that packages the Vpx accessory proteinQ33926275
A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostosesQ33934484
Deciphering the splicing codeQ34022324
No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromasQ34162459
The natural history of hereditary multiple exostosesQ34330009
Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype studyQ34352873
Manifestations of hereditary multiple exostosesQ34413570
Splicing in disease: disruption of the splicing code and the decoding machineryQ34582131
Natural history study of hereditary multiple exostosesQ34721751
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.Q34921189
Human Splicing Finder: an online bioinformatics tool to predict splicing signalsQ34973311
Glycobiology and the growth plate: current concepts in multiple hereditary exostosesQ35036977
Deep RNA sequencing reveals a high frequency of alternative splicing events in the fungus Trichoderma longibrachiatumQ35074007
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.Q35146912
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.Q35644251
Novel mutation of EXT2 identified in a large family with multiple osteochondromasQ37403614
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).Q37610056
Real-Time Quantitative Reverse Transcriptase-Polymerase Chain Reaction as a Method for Determining Lentiviral Vector Titers and Measuring Transgene ExpressionQ40591406
Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bonesQ42133421
Efficient propagation of progressive multifocal leukoencephalopathy-type JC virus in COS-7-derived cell lines stably expressing Tat protein of human immunodeficiency virus type 1.Q45369910
Three Drosophila EXT genes shape morphogen gradients through synthesis of heparan sulfate proteoglycansQ47070505
Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender.Q51169041
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors.Q51367069
Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivationQ56988349
Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patientsQ59195993
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromasQ62937172
P433issue3
P407language of work or nameEnglishQ1860
P921main subjecthereditary multiple exostosesQ1952467
P304page(s)859-868
P577publication date2019-03-01
P1433published inInternational Journal of OncologyQ6051527
P1476titleA novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses
P478volume54

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