Connective tissue alterations in Fkbp10−/− mice

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype ofFKBP10  Mutations

(2013) Aileen M. Barnes et al.   HUMAN MUTATION

Recessively Inherited Forms of Osteogenesis Imperfecta

(2012) Peter H. Byers et al.   Annual Review of Genetics

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

(2012) U. Schwarze et al.   HUMAN MOLECULAR GENETICS

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

(2012) Maria Trinidad Puig-Hervás et al.   HUMAN MUTATION

Directin Vitroandin VivoEvidence for Interaction between Hsp47 Protein and Collagen Triple Helix

(2012) Takashi Ono et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

(2011) Shawna M. Pyott et al.   HUMAN MOLECULAR GENETICS

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

(2010) Yasemin Alanay et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

(2010) Helena E. Christiansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Effect of FKBP65, a putative elastin chaperone, on the coacervation of tropoelastin in vitro

(2010) Kevin L.Y. Cheung et al.   Biochemistry and Cell Biology

Prolyl 3-Hydroxylase 1 Null Mice Display Abnormalities in Fibrillar Collagen-rich Tissues Such as Tendons, Skin, and Bones

(2010) Janice A. Vranka et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

(2010) Brian P Kelley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Generalized Connective Tissue Disease in Crtap-/- Mouse

(2010) Dustin Baldridge et al.   PLoS One

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

(2009) Joan C. Marini et al.   CELL AND TISSUE RESEARCH

Missense Mutations That Cause Bruck Syndrome Affect Enzymatic Activity, Folding, and Oligomerization of Lysyl Hydroxylase 2

(2009) Marjo Hyry et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Rough Endoplasmic Reticulum-resident FK506-binding Protein FKBP65 Is a Molecular Chaperone That Interacts with Collagens

(2008) Yoshihiro Ishikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY