Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Human Mutation|January 9, 2007
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotypeWayne A Cabral, Elena Makareeva, Anne D Letocha, et al.
Molecular Genetics and Metabolism|August 23, 2011
Deficient degradation of homotrimeric type I collagen, α1(I)3 glomerulopathy in oim miceAnna M Roberts-Pilgrim, Elena Makareeva, Matthew H Myles, et al.
JBMR Plus|August 14, 2025
Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4Elena F Evans, Woo Young Chung, Aileen M Barnes, et al.
Plos One|July 11, 2018
Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfectaElena Makareeva, Guoli Sun, Lynn S Mirigian, et al.
The Journal of Biological Chemistry|December 13, 2007
Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfectaElena Makareeva, Edward L Mertz, Natalia V Kuznetsova, et al.
The New England Journal of Medicine|January 22, 2010
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen foldingAileen M Barnes, Erin M Carter, Wayne A Cabral, et al.
Human Mutation|May 29, 2013
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutationsAileen M Barnes, Geraldine Duncan, Maryann Weis, et al.
The New England Journal of Medicine|December 29, 2006
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfectaAileen M Barnes, Weizhong Chang, Roy Morello, et al.
Nature Genetics|February 6, 2007
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfectaWayne A Cabral, Weizhong Chang, Aileen M Barnes, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|March 1, 2020
Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasiaWayne A Cabral, Nadja Fratzl-Zelman, MaryAnn Weis, et al.
Pageof 4