Literature DB >> 8081357

A gene for hereditary multiple exostoses maps to chromosome 19p.

M Le Merrer1, L Legeai-Mallet, P M Jeannin, B Horsthemke, A Schinzel, H Plauchu, A Toutain, F Achard, A Munnich, P Maroteaux.   

Abstract

Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage analysis in informative families. Here, we report on the genetic mapping of a second locus (EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the D19S221 locus, which gives additional support to the view that EXT is a genetically heterogeneous condition.

Entities:  

Mesh:

Year:  1994        PMID: 8081357     DOI: 10.1093/hmg/3.5.717

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  48 in total

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

Authors:  C McCormick; G Duncan; K T Goutsos; F Tufaro
Journal:  Proc Natl Acad Sci U S A       Date:  2000-01-18       Impact factor: 11.205

Review 2.  The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.

Authors:  G Duncan; C McCormick; F Tufaro
Journal:  J Clin Invest       Date:  2001-08       Impact factor: 14.808

3.  Genotype-phenotype correlation in hereditary multiple exostoses.

Authors:  C Francannet; A Cohen-Tanugi; M Le Merrer; A Munnich; J Bonaventure; L Legeai-Mallet
Journal:  J Med Genet       Date:  2001-07       Impact factor: 6.318

4.  Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

Authors:  Sana Sfar; Abderrazak Abid; Wijden Mahfoudh; Houyem Ouragini; Farah Ouechtati; Sonia Abdelhak; Lotfi Chouchane
Journal:  Mol Biol Rep       Date:  2008-03-11       Impact factor: 2.316

5.  Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

Authors:  O Bartsch; W Wuyts; W Van Hul; J T Hecht; P Meinecke; D Hogue; W Werner; B Zabel; G K Hinkel; C M Powell; L G Shaffer; P J Willems
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

6.  Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Authors:  C Philippe; D E Porter; M E Emerton; D E Wells; A H Simpson; A P Monaco
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

7.  The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans.

Authors:  G A Clines; J A Ashley; S Shah; M Lovett
Journal:  Genome Res       Date:  1997-04       Impact factor: 9.043

8.  Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Authors:  W Wuyts; W Van Hul; K De Boulle; J Hendrickx; E Bakker; F Vanhoenacker; F Mollica; H J Lüdecke; B S Sayli; U E Pazzaglia; G Mortier; B Hamel; E U Conrad; M Matsushita; W H Raskind; P J Willems
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

9.  The molecular and cellular basis of exostosis formation in hereditary multiple exostoses.

Authors:  Meirav Trebicz-Geffen; Dror Robinson; Zoharia Evron; Tova Glaser; Mati Fridkin; Yehuda Kollander; Israel Vlodavsky; Neta Ilan; Kit Fong Law; Kathryn S E Cheah; Danny Chan; Haim Werner; Zvi Nevo
Journal:  Int J Exp Pathol       Date:  2008-04-30       Impact factor: 1.925

10.  Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.

Authors:  Liesbeth Hameetman; Judith Vmg Bovée; Antonie Hm Taminiau; Herman M Kroon; Pancras Cw Hogendoorn
Journal:  Hered Cancer Clin Pract       Date:  2004-11-15       Impact factor: 2.857

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.