First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

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

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers–Danlos syndrome

(2010) Lee B. Smith et al.   CARDIOVASCULAR RESEARCH

Relationship between collagen synthesis and expression of the osteoblast phenotype in MC3T3-E1 cells

(2010) Renny T. Franceschi et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Bone fragility in transgenic mice expressing a mutated gene for type I procollagen (COL1A1) parallels the age-dependent phenotype of human osteogenesis imperfecta

(2010) Ruth F. Pereira et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

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

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

(2009) Aurélie Plancke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model

(2009) Ethan Daley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Endoplasmic Reticulum Stress in Disease Pathogenesis

(2008) Jonathan H. Lin et al.   Annual Review of Pathology-Mechanisms of Disease

Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors

(2008) Thomas E Uveges et al.   JOURNAL OF BONE AND MINERAL RESEARCH

ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta

(2008) Thomas S. Lisse et al.   PLoS Genetics