Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

Author:

Marini Joan C.,Forlino Antonella,Cabral Wayne A.,Barnes Aileen M.,San Antonio James D.,Milgrom Sarah,Hyland James C.,Körkkö Jarmo,Prockop Darwin J.,De Paepe Anne,Coucke Paul,Symoens Sofie,Glorieux Francis H.,Roughley Peter J.,Lund Alan M.,Kuurila-Svahn Kaija,Hartikka Heini,Cohn Daniel H.,Krakow Deborah,Mottes Monica,Schwarze Ulrike,Chen Diana,Yang Kathleen,Kuslich Christine,Troendle James,Dalgleish Raymond,Byers Peter H.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference73 articles.

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2. Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the helix of type I collagen;Bächinger;Am J Med Genet,1993

3. Barnes AM, Chang W, Morello R, Cabral WA, Weis MA, Eyre DR, Makareeva E, Kouznetsova N, Leikin S, Uveges TE, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC. 2006. Recessive lethal form of osteogenesis imperfecta caused by null mutations in CRTAP. 28th Annual Meeting of American Society of Bone and Mineral Research, Philadelphia, PA. Abstract 922.

4. Induction of endothelial cell activation by a triple helical α2β1 integrin ligand, derived from type I collagen α1(I)496-507;Baronas-Lowell;J Biol Chem,2004

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