Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

J Becker, O Semler, C Gilissen, Y Li, HJ Bolz… - The American Journal of …, 2011 - cell.com
Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder characterized by bone
fragility and susceptibility to fractures after minimal trauma. After mutations in all known OI …

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

HE Christiansen, U Schwarze, SM Pyott… - The American Journal of …, 2010 - cell.com
Osteogenesis imperfecta (OI) is characterized by bone fragility and fractures that may be
accompanied by bone deformity, dentinogenesis imperfecta, short stature, and shortened …

Molecular and genetic features of zinc transporters in physiology and pathogenesis

T Fukada, T Kambe - Metallomics, 2011 - academic.oup.com
Zinc (Zn) is a vital element. It plays indispensable roles in multifarious cellular processes,
affecting the expression and activity of a variety of molecules, including transcription factors …

Bisphosphonate-related osteonecrosis of the jaw: position paper from the allied task force committee of Japanese society for bone and mineral research, Japan …

T Yoneda, H Hagino, T Sugimoto, H Ohta… - Journal of bone and …, 2010 - Springer
Bisphosphonates (BPs) have been widely, efficiently, and safely used for the treatment of
osteoporosis, malignant hypercalcemia, bone metastasis of solid cancers, and multiple …

Osteogenesis imperfecta: a review with clinical examples

FS van Dijk, JM Cobben, A Kariminejad… - Molecular …, 2011 - karger.com
Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures, with a
severity ranging from subtle increase in fracture frequency to prenatal fractures. The first …

A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V

TJ Cho, KE Lee, SK Lee, SJ Song, KJ Kim… - The American Journal of …, 2012 - cell.com
Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility.
OI type V is an autosomal-dominant disease characterized by calcification of the forearm …

The new bone biology: pathologic, molecular, and clinical correlates

MM Cohen Jr - American journal of medical genetics part A, 2006 - Wiley Online Library
Bone and cartilage and their disorders are addressed under the following headings:
functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; …

Bone as a structural material

EA Zimmermann, RO Ritchie - Advanced healthcare materials, 2015 - Wiley Online Library
As one of the most important natural materials, cortical bone is a composite material
comprising assemblies of tropocollagen molecules and nanoscale hydroxyapatite mineral …

Hereditary dentin defects

JW Kim, JP Simmer - Journal of dental research, 2007 - journals.sagepub.com
By the Shields classification, articulated over 30 years ago, inherited dentin defects are
divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin …

Osteogenesis imperfecta

FH Glorieux, D Rowe - Pediatric bone, 2012 - Elsevier
Publisher Summary Osteogenesis imperfecta (OI) or “brittle bone disease” is characterized
by reduced skeletal mass and bone fragility. OI has served as the paradigm for heritable …