ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation
- Author
- LE GOFF, Carine1 ; MORICE-PICARD, Fanny1 ; GAOXIANG GE8 ; GREENSPAN, Daniel S8 ; BONNET, Damien9 ; LE MERRER, Martine1 ; MUNNICH, Arnold1 ; APTE, Suneel S2 ; CORMIER-DAIRE, Valérie1 ; DAGONEAU, Nathalie1 ; WANG, Lauren W2 ; PERROT, Claire1 ; CROW, Yanick J3 ; BAUER, Florence4 ; FLORI, Elisabeth5 ; PROST-SQUARCIONI, Catherine6 ; KRAKOW, Deborah7
[1] Département de Génétique, Unité INSERM U781, Université Paris Descartes, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, 75015 Paris, France
[2] Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, United States
[3] Leeds Institute of Molecular Medicine, St James's University Hospital, LS29JT Leeds, United Kingdom
[4] Clinique Paofaï, Fare Tony, Papeete, Tahiti, French Polynesia
[5] Département de Génétique, Hôpital de Hautepierre, Strasbourg 67000, France
[6] CNRS UPRES 3410, Faculté de Médecine, Hôpital Avicennes, 93000 Bobigny, France
[7] Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, United States
[8] Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison, Wisconsin 53706, United States
[9] Service de Cardiologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France - Source
Nature genetics. 2008, Vol 40, Num 9, pp 1119-1123, 5 p ; ref : 20 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Dysplasie Facteur croissance transformant β Mutation Protéine Régulation
- Keyword (en)
- Dysplasia Transforming growth factor β Mutation Protein Regulation(control)
- Keyword (es)
- Displasia Factor crecimiento transformante β Mutación Proteína Regulación
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Discipline
- Eukaryotes genetics. Biological and molecular evolution
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20675980
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ng.199 
https://dx.doi.org/10.1038/ng.199
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