| 1 |
35103870 | Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier. | 2022 Mar |
1 |
| 2 |
34042151 | A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate. | 2021 |
4 |
| 3 |
34815940 | Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses. | 2021 Dec |
1 |
| 4 |
34956317 | Hereditary Multiple Exostoses-A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies. | 2021 |
1 |
| 5 |
32366836 | Internalization mechanisms of brain-derived tau oligomers from patients with Alzheimer's disease, progressive supranuclear palsy and dementia with Lewy bodies. | 2020 May 4 |
2 |
| 6 |
33414810 | EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis. | 2020 |
1 |
| 7 |
30806661 | Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. | 2019 Jul 1 |
1 |
| 8 |
30997052 | Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. | 2019 Apr |
1 |
| 9 |
31211456 | Insights into the molecular regulatory network of pathomechanisms in osteochondroma. | 2019 Oct |
1 |
| 10 |
29120519 | Palovarotene Inhibits Osteochondroma Formation in a Mouse Model of Multiple Hereditary Exostoses. | 2018 Apr |
1 |
| 11 |
29541207 | Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma. | 2018 Apr |
1 |
| 12 |
29545125 | Signaling systems affecting the severity of multiple osteochondromas. | 2018 Jun |
2 |
| 13 |
28445472 | Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice. | 2017 Apr |
2 |
| 14 |
28466453 | Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments. | 2017 Jun |
2 |
| 15 |
28690282 | Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas. | 2017 Jul |
4 |
| 16 |
27650265 | Polyamines release the let-7b-mediated suppression of initiation codon recognition during the protein synthesis of EXT2. | 2016 Sep 21 |
1 |
| 17 |
27748933 | Novel mutation of EXT2 identified in a large family with multiple osteochondromas. | 2016 Nov |
1 |
| 18 |
25600875 | Heparan Sulfate Proteoglycans Regulate Fgf Signaling and Cell Polarity during Collective Cell Migration. | 2015 Jan 20 |
2 |
| 19 |
25863260 | Heparanase stimulates chondrogenesis and is up-regulated in human ectopic cartilage: a mechanism possibly involved in hereditary multiple exostoses. | 2015 Jun |
2 |
| 20 |
26246518 | Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. | 2015 Oct |
3 |
| 21 |
24297320 | Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses. | 2014 Feb |
1 |
| 22 |
24409815 | Multiple hereditary exostoses (MHE): elucidating the pathogenesis of a rare skeletal disorder through interdisciplinary research. | 2014 Apr |
2 |
| 23 |
25230886 | A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. | 2014 Sep 18 |
1 |
| 24 |
25468659 | Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. | 2014 Dec 2 |
2 |
| 25 |
23514715 | Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application. | 2013 Jul |
2 |
| 26 |
21956842 | Epiphyseal growth plate and secondary peripheral chondrosarcoma: the neighbours matter. | 2012 Jan |
1 |
| 27 |
22037484 | Identification and functional characterization of the human EXT1 promoter region. | 2012 Jan 15 |
1 |
| 28 |
22899865 | Heparan sulfate biosynthesis: methods for investigation of the heparanosome. | 2012 Dec |
1 |
| 29 |
22040554 | Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas. | 2011 Oct |
1 |
| 30 |
20377530 | Biosynthesis of heparan sulfate in EXT1-deficient cells. | 2010 May 27 |
2 |
| 31 |
20872591 | A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas. | 2010 Nov |
2 |
| 32 |
19839753 | Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. | 2009 Dec |
2 |
| 33 |
18337501 | Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation. | 2008 Mar 25 |
3 |
| 34 |
17237233 | Expression of rib-1, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes, is indispensable for heparan sulfate synthesis and embryonic morphogenesis. | 2007 Mar 16 |
1 |
| 35 |
17761672 | Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation. | 2007 Nov 9 |
1 |
| 36 |
16784821 | Nerve injury induces the expression of EXT2, a glycosyltransferase required for heparan sulfate synthesis. | 2006 Sep 15 |
3 |
| 37 |
16026543 | Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes. | 2005 Jun |
2 |
| 38 |
16283885 | An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. | 2005 Dec |
1 |
| 39 |
12907685 | In vitro heparan sulfate polymerization: crucial roles of core protein moieties of primer substrates in addition to the EXT1-EXT2 interaction. | 2003 Oct 24 |
2 |
| 40 |
12032595 | Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. | 2002 |
1 |
| 41 |
12110435 | Heparan sulfate abnormalities in exostosis growth plates. | 2002 Jul |
2 |
| 42 |
12417417 | Hereditary multiple exostoses and heparan sulfate polymerization. | 2002 Dec 19 |
2 |
| 43 |
11121397 | rib-2, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes encodes a novel alpha1,4-N-acetylglucosaminyltransferase involved in the biosynthetic initiation and elongation of heparan sulfate. | 2001 Feb 16 |
3 |
| 44 |
11390981 | Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis. | 2001 Jun 19 |
2 |
| 45 |
11391482 | Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. | 2001 Jul |
4 |
| 46 |
11432960 | Genotype-phenotype correlation in hereditary multiple exostoses. | 2001 Jul |
1 |
| 47 |
11461073 | A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis. | 2001 Jul 20 |
1 |
| 48 |
10639137 | The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. | 2000 Jan 18 |
2 |
| 49 |
10529789 | New perspectives on the molecular basis of hereditary bone tumours. | 1999 Nov |
1 |
| 50 |
9756849 | The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. | 1998 Oct 9 |
1 |