A p.C217R Mutation in Fibulin-5 from Cutis Laxa Patients Is Associated with Incomplete Extracellular Matrix Formation in a Skin Equivalent Model
- Author
- CLAUS, Stephanie1 2 ; FISCHER, Judith3 ; DAMOUR, Odile1 2 ; MEGARBANE, Hala4 ; MEGARBANE, André5 ; JOBARD, Florence3 ; DEBRET, Romain1 ; PEYROL, Simone6 ; SAKER, Safa7 ; DEVILLERS, Martine8 ; SOMMER, Pascal1
[1] Institut de Biologie et de Chimie des Protéines, Centre National de la Recherche Scientifique, Université Lyon 1, Institut Fédératif de Recherches 128, Lyon, France
[2] Laboratoire des Substituts Cutanés, Hôpital Edouard Herriot, Lyon, France
[3] Centre National de Génotypage, Institut de Génomique, CEA, Evry, France
[4] Dermatology Medical Center, Hotel-Dieu de France de Beirut, Beirut, Lebanon
[5] Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
[6] Centre Commun d'Imagerie de Laennec, Faculté de Médecine R.T.H. Laennec, Université Lyon 1, Lyon, France
[7] Généthon, Banque d'ADN et de cellules, Evry, France
[8] Association Française contre les Myopathies, Evry, France - Source
Journal of investigative dermatology. 2008, Vol 128, Num 6, pp 1442-1450, 9 p ; ref : 3/4 p
- CODEN
- JIDEAE
- ISSN
- 0022-202X
- Scientific domain
- Dermatology
- Publisher
- Nature Publishing, Danvers, MA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Association Cutis laxa Dermatologie Equivalent Formation Génétique Homme Incomplet Matrice extracellulaire Modèle Mutation Peau Fibuline Maladie de système Pathologie de la peau Pathologie du tissu élastique
- Keyword (en)
- Association Cutis laxa Dermatology Equivalent Formation Genetics Human Incomplete Extracellular matrix Models Mutation Skin Fibulin Systemic disease Skin disease Elastic tissue disease
- Keyword (es)
- Asociación Calastodermia Dermatología Equivalente Formación Genética Hombre Incompleto Matriz extracelular Modelo Mutación Piel Enfermedad sistémica Piel patología Tejido elástico patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B07 Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
- Discipline
- Dermatology Sarcoidosis. Granulomatosis of undetermined origin. Connective tissue diseases. Vasculitides
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20337118
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/sj.jid.5701211 
https://dx.doi.org/10.1038/sj.jid.5701211
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