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EXT1
Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18216313 |
mutation associated with familial nephropathy in which steroid-sensitive nephrotic syndrome and glomerular deposits of fibrillar collagen are associated with multiple exostoses |
| 15586175 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16283885 |
Observational study of genetic testing. (HuGE Navigator) |
| 17676624 |
EXT1 mutations are associated with a more severe hereditary multiple exostoses phenotype than other EXT forms. |
| 17761672 |
capacity of wild type EXT2 to enhance heparan sulfate chain length together with EXT1 was not shared by the EXT2-Y419X mutant |
| 17610078 |
The hEXT1 gene was able to rescue a ttv null mutant to adulthood and restore glycosaminoglycan biosynthesis. |
| 17589361 |
Hereditary multiple exostosis patients with mutations in EXT1 gene have more anatomic abnormality and burden than those with EXT2 mutations. |
| 17301954 |
Detection of mutations in EXT1 gene can significantly improve the identification of both point-mutations and mid-size rearrangemements in osteochrondromas. |
| 15385438 |
EXT1 function is abrogated in human cancer cells by transcriptional silencing associated with CpG island promoter hypermethylation. The epigenetic inactivation of EXT1, a glycosyltransferase, leads to the loss of heparan sulfate synthesis |
| 15586175 |
Variations in EXT1 gene is associated with multiple osteochondromas | →View more information from publications. |
Recent Publications on EXT1: |  |
Osteochondromas: review of the clinical, radiological and pathological features.
Osteochondroma is the most common benign bone tumor and usually occurs in... | 16th October, 2008
| Department of Anatomy, Histology and Embryology, and University of
| In Vivo. 2008 Sep-Oct;22(5):633-46.
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Lack of heparan sulfate expression on B cell lines: implications for KSHV and MHV68 infection.
Kaposi Sarcoma associated Herpesvirus (KSHV), and its murine homolog... | 10th October, 2008
| Department of Molecular and Cell Biology, University of California, 142
| J Virol. 2008 Oct 8.
DOI Direct Link |
Glomerular filtration: the charge debate charges ahead.
The concept that the glomerular filtration barrier exhibits charge... | 7th October, 2008
| Renal Division, Department of Internal Medicine, Washington University
| Kidney Int. 2008 Aug;74(3):259-61.
DOI Direct Link |
Loss of heparan sulfate glycosaminoglycan assembly in podocytes does not lead to proteinuria.
Podocytes synthesize the majority of the glomerular basement membrane... | 7th October, 2008
| 1Department of Cell Biology and Anatomy, Louisiana State University Health
| Kidney Int. 2008 Aug;74(3):289-99. Epub 2008 May 14.
DOI Direct Link |
Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses.
Identification of casual mutations in Hereditary Multiple Exostoses (HME)... | 25th September, 2008
| Department of Genetics, Faculty of Science, Shahid Chamran University,
| Pak J Biol Sci. 2008 Apr 1;11(7):1037-41.
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→View more research publications. |
EXT1 results (if any) from reagent suppliers | 
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EXT1 (V-15) Antibody sc-11040
EXT1 (V-15) P, sc-11040 P (peptide), 100 µg/0.5 ml ... EXT1 shRNA Plasmid (h), sc-106792-SH, 20 µg, $495. EXT1 shRNA Plasmid (m), sc-144984-SH, 20 µg ...
http://www.scbt.com/datasheet-11040-ext1-v-15-antibody.html...
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Orbigen Inc. - Orbigen Inc.
Exostoses (multiple) 1 protein (Ext1) is an ER-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate ...
http://www.orbigen.com/commerce/catalog/product.jsp?product_...
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EXT1 exostoses (multiple) 1
EXT1; EXT; TTV. Refseq ID(s). NM_000127. Other Designations ... WH0002131M1, Monoclonal Anti-EXT1 antibody produced in mouse clone 5A5, ...
http://www.sigmaaldrich.com/catalog/search/SIRNASearchGeneDe...
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Genetic Disease Markers
Erythrocyte membrane protein band 4.2 (EPB42) polyclonal antibody, PAB-10732, $175.00. Exostoses 1 (EXT1) polyclonal antibody, PAB-10671, $175.00 ...
http://www.orbigen.com/dictionary/cat1052.htm...
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LOC299907 similar to Ext1
Gene and Product Information. LOC299907. similar to Ext1 ... EXT1(Human); Ext1( Mouse). Replaces Gene ID(s). 368076. Useful External Links ...
http://www.sigmaaldrich.com/catalog/search/SIRNASearchGeneDe...
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EXT2 (N-15) Antibody sc-11042
Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation. Proc Natl Acad Sci U S A. 105: 4751-4756. ...
http://www.scbt.com/datasheet-11042-ext2-n-15-antibody.html...
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Panorama® Antibody Array - Signal Transduction
EXT1. exostoses (multiple) 1. 2131 · EXT2. exostoses (multiple) 2. 2132 · EZH2. enhancer of zeste homolog 2 (Drosophila) ...
http://www.sigmaaldrich.com/life-science/cell-biology/protei...
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Technical Bulletin
EXT1. exostoses (multiple) 1. 2131. EXT2. exostoses (multiple) 2. 2132. FANCC. Fanconi anemia complementation group C ...
https://www.sigmaaldrich.com/etc/medialib/docs/Sigma-Aldrich...
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Local Russian Arts Group Presents Musical March 25 At Englert ...
Tickets are available at the door, or call 319-688-2653 ext. 1. The cost is $8 for students and senior citizens and $15 for adults. ...
http://www.uiowa.edu/~ournews/2005/march/032205russian_music...
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Sheet1
41, EXT1, 2131, BC001174.1, AAH01174.1 · Q16394, exostoses (multiple) 1. 42, EXT2, 2132, BC010058.1, AAH10058.1 · Q93063, exostoses (multiple) 2 ...
http://www.sigmaaldrich.com/etc/medialib/docs/Sigma/Instruct...
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