ArticleGenome research1997
The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans.
Article in Genome research, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 65 citations in OpenAlex.
- Palovarotene for patients with multiple hereditary exostosis: results of MO-Ped, a terminated, randomized, placebo-controlled, double-blind phase 2 trial.Scientific reports · 2025Trial
- The identification of a novel frameshift insertion mutation in theClinical case reports · 2022Article
- An analysis of osteoporosis in patients with hereditary multiple exostoses.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2020Article
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- RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.Molecular genetics & genomic medicine · 2019Article
- Daughter and mother diagnosed with hereditary multiple exostoses: A case report and a review of the literature.Medicine · 2017Article
- Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.BMC genetics · 2016Article
- Identification of a novel frameshift mutation of theOncology letters · 2016Article
- Syndecan promotes axon regeneration by stabilizing growth cone migration.Cell reports · 2014Article
- MutantBioMedicine · 2014Article
- Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.Scientific reports · 2013Article
- Clinical and molecular studies of EXT1/EXT2 in Bulgaria.Journal of inherited metabolic disease · 2011Article
- Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.BMC medical genetics · 2011Article
- Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.Hereditary cancer in clinical practice · 2004Article
- Of hedgehogs and hereditary bone tumors: re-examination of the pathogenesis of osteochondromas.The Iowa orthopaedic journal · 2003Review
- The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.The Journal of clinical investigation · 2001Review
- Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.American journal of human genetics · 2001Article
- 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.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- A C. elegans patched gene, ptc-1, functions in germ-line cytokinesis.Genes & development · 2000Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by multiple cartilage-capped outgrowths from the epiphyses of long bones. In some cases, these osteochondromas progress to malignant chondrosarcomas. Alterations in at least three genes (EXT1, EXT2, and EXT3) can cause this disorder. Two of these have been isolated (EXT1 and EXT2) and encode related members of a putative tumor suppressor family. We report here the genomic structure of the human EXT2 gene consisting of 14 exons (plus 2 alternative exons) covering an estimated 108 kb of chromosome 11p11-13. We have derived the DNA sequences at all exon/intron boundaries throughout this gene-information that is important for the detailed study of mutations in EXT2. We have also characterized the mouse EXT2 cDNA and have mapped the mouse locus to chromosome 2 between D2Mit15 and Pax6. This mouse homolog should enable transgenic knockout experiments to be initiated to further elucidate gene function. Interestingly, sequence comparisons reveal that the human and mouse EXT genes have at least two homologs in the invertebrate Caenorhabditis elegans, indicating that they do not function exclusively as regulators of bone growth. This observation opens the way for a functional analysis of these genes in nematodes and other lower organisms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.