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

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

Absence ofFKBP10in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix

(2012) Aileen M. Barnes et al.   HUMAN MUTATION

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

(2011) Ranad Shaheen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

(2011) Ortrud K Steinlein et al.   BMC Medical Genetics

A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect

(2011) Giacomo Venturi et al.   BONE

Deficiency ofCRTAPin non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix

(2011) M Valli et al.   CLINICAL GENETICS

A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

(2011) E.D. Setijowati et al.   European Journal of Medical Genetics

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

(2010) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN 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

Carcinomas Contain a Matrix Metalloproteinase–Resistant Isoform of Type I Collagen Exerting Selective Support to Invasion

(2010) Elena Makareeva et al.   CANCER RESEARCH

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

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

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