Chondrodysplasias and TGF beta signaling

被引:7
作者
Le Goff, Carine [1 ]
Cormier-Daire, Valerie [1 ]
机构
[1] Paris Descartes Univ, Sorbonne Paris Cite, Dept Genet,Necker Enfants Malades Hosp,Imagine In, INSERM,UMR 1163,Lab Mol & Physiopathol Bases Oste, Paris, France
关键词
D O I
10.1038/bonekey.2015.9
中图分类号
R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学(修复外科学)];
学科分类号
摘要
Human chondrodysplasias are a group of conditions that affect the cartilage. This review is focused on the involvement of transforming growth factor-beta signaling in a group of chondrodysplasias, entitled acrornelic dysplasia, characterized by short stature, short hands and restricted joint mobility.
引用
收藏
页数:7
相关论文
共 62 条
[31]   ADAMTS10 Protein Interacts with Fibrillin-1 and Promotes Its Deposition in Extracellular Matrix of Cultured Fibroblasts [J].
Kutz, Wendy E. ;
Wang, Lauren W. ;
Bader, Hannah L. ;
Majors, Alana K. ;
Iwata, Kazushi ;
Traboulsi, Elias I. ;
Sakai, Lynn Y. ;
Keene, Douglas R. ;
Apte, Suneel S. .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2011, 286 (19) :17156-17167
[32]   Myhre syndrome [J].
Le Goff, C. ;
Michot, C. ;
Cormier-Daire, V. .
CLINICAL GENETICS, 2014, 85 (06) :503-513
[33]   ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation [J].
Le Goff, Carine ;
Morice-Picard, Fanny ;
Dagoneau, Nathalie ;
Wang, Lauren W. ;
Perrot, Claire ;
Crow, Yanick J. ;
Bauer, Florence ;
Flori, Elisabeth ;
Prost-Squarcioni, Catherine ;
Krakow, Deborah ;
Ge, Gaoxiang ;
Greenspan, Daniel S. ;
Bonnet, Damien ;
Le Merrer, Martine ;
Munnich, Arnold ;
Apte, Suneel S. ;
Cormier-Daire, Valerie .
NATURE GENETICS, 2008, 40 (09) :1119-1123
[34]   Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias [J].
Le Goff, Carine ;
Mahaut, Clementine ;
Wang, Lauren W. ;
Allali, Slimane ;
Abhyankar, Avinash ;
Jensen, Sacha ;
Zylberberg, Louise ;
Collod-Beroud, Gwenaelle ;
Bonnet, Damien ;
Alanay, Yasemin ;
Brady, Angela. F. ;
Cordier, Marie-Pierre ;
Devriendt, Koen ;
Genevieve, David ;
Kiper, Pelin Ozlem Simsek ;
Kitoh, Hiroshi ;
Krakow, Deborah ;
Lynch, Sally Ann ;
Le Merrer, Martine ;
Megarbane, Andre ;
Mortier, Geert ;
Odent, Sylvie ;
Polak, Michel ;
Rohrbach, Marianne ;
Sillence, David ;
Stolte-Dijkstra, Irene ;
Superti-Furga, Andrea ;
Rimoin, David L. ;
Topouchian, Vicken ;
Unger, Sheila ;
Zabel, Bernhard ;
Bole-Feysot, Christine ;
Nitschke, Patrick ;
Handford, Penny ;
Casanova, Jean-Laurent ;
Boileau, Catherine ;
Apte, Suneel S. ;
Munnich, Arnold ;
Cormier-Dairel, Valerie .
AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (01) :7-14
[35]   Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome [J].
Le Goff, Carine ;
Mahaut, Clementine ;
Abhyankar, Avinash ;
Le Goff, Wilfried ;
Serre, Valerie ;
Afenjar, Alexandra ;
Destree, Anne ;
di Rocco, Maja ;
Heron, Delphine ;
Jacquemont, Sebastien ;
Marlin, Sandrine ;
Simon, Marleen ;
Tolmie, John ;
Verloes, Alain ;
Casanova, Jean-Laurent ;
Munnich, Arnold ;
Cormier-Daire, Valerie .
NATURE GENETICS, 2012, 44 (01) :85-U118
[36]   A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 [J].
Loeys, BL ;
Chen, JJ ;
Neptune, ER ;
Judge, DP ;
Podowski, M ;
Holm, T ;
Meyers, J ;
Leitch, CC ;
Katsanis, N ;
Sharifi, N ;
Xu, FL ;
Myers, LA ;
Spevak, PJ ;
Cameron, DE ;
De Backer, J ;
Hellemans, J ;
Chen, Y ;
Davis, EC ;
Webb, CL ;
Kress, W ;
Coucke, P ;
Rifkin, DB ;
De Paepe, AM ;
Dietz, HC .
NATURE GENETICS, 2005, 37 (03) :275-281
[37]  
Marchesani O, 1939, MIBL AUGENHEILK, V103, P392
[38]   ACROMICRIC DYSPLASIA [J].
MAROTEAUX, P ;
STANESCU, R ;
STANESCU, V ;
RAPPAPORT, R .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (03) :447-459
[39]   The logic of TGFβ signaling [J].
Massague, Joan ;
Gomis, Roger R. .
FEBS LETTERS, 2006, 580 (12) :2811-2820
[40]   Critical roles of the TGF-β type I receptor ALK5 in perichondrial formation and function, cartilage integrity, and osteoblast differentiation during growth plate development [J].
Matsunobu, Tomoya ;
Torigoe, Kiyoyuki ;
Ishikawa, Masaki ;
de Vega, Susana ;
Kulkarni, Ashok B. ;
Iwamoto, Yukihide ;
Yamada, Yoshihiko .
DEVELOPMENTAL BIOLOGY, 2009, 332 (02) :325-338