Bone Collagen: New Clues to Its Mineralization Mechanism from Recessive Osteogenesis Imperfecta

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by anIFITM5Mutation

(2013) Jay R Shapiro et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

(2012) Tae-Joon Cho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

(2012) P.V. Asharani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

(2012) Oliver Semler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

(2012) Marianne Rohrbach et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Peptidyl 3-Hydroxyproline Binding Properties of Type I Collagen Suggest a Function in Fibril Supramolecular Assembly

(2012) David M. Hudson et al.   BIOCHEMISTRY

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

(2012) Johanna Korvala et al.   BMC Medical Genetics

Ultra-structural defects cause low bone matrix stiffness despite high mineralization in osteogenesis imperfecta mice

(2012) Maximilien Vanleene et al.   BONE

Recent Advances in Osteogenesis Imperfecta

(2012) Tim Cundy   CALCIFIED TISSUE INTERNATIONAL

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

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

Comprehensive Mass Spectrometric Mapping of the Hydroxylated Amino Acid residues of the α1(V) Collagen Chain

(2012) Chenxi Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Biology of Small Leucine-rich Proteoglycans in Bone Pathophysiology

(2012) Dragana Nikitovic et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Osteoadherin Accumulates in the Predentin towards the Mineralization Front in the Developing Tooth

(2012) Hero Nikdin et al.   PLoS One

Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition

(2012) C. Widmer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

(2011) Jutta Becker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

(2011) Katarina Lindahl et al.   HUMAN MUTATION

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

(2011) Víctor Martínez-Glez et al.   HUMAN MUTATION

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

(2011) Erica P Homan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Lrp5 functions in bone to regulate bone mass

(2011) Yajun Cui et al.   NATURE MEDICINE

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

(2010) Pablo Lapunzina 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

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

Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice

(2010) Nobutaka Hanagata et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

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

The role of small leucine-rich proteoglycans in collagen fibrillogenesis

(2010) Sebastian Kalamajski et al.   MATRIX BIOLOGY

Mineralization of the metre-long biosilica structures of glass sponges is templated on hydroxylated collagen

(2010) Hermann Ehrlich et al.   Nature Chemistry

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

(2010) Aileen M. Barnes et al.   NEW ENGLAND JOURNAL OF MEDICINE

PPIB Mutations Cause Severe Osteogenesis Imperfecta

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

Location of 3-Hydroxyproline Residues in Collagen Types I, II, III, and V/XI Implies a Role in Fibril Supramolecular Assembly

(2009) Mary Ann Weis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

(2009) Cord Drögemüller et al.   PLoS Genetics

CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta

(2008) Dustin Baldridge et al.   HUMAN MUTATION

Differences in Chain Usage and Cross-linking Specificities of Cartilage Type V/XI Collagen Isoforms with Age and Tissue

(2008) Jiann-Jiu Wu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Candidate Cell and Matrix Interaction Domains on the Collagen Fibril, the Predominant Protein of Vertebrates

(2008) Shawn M. Sweeney et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Bril: A Novel Bone-Specific Modulator of Mineralization

(2008) Pierre Moffatt et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Advances in collagen cross-link analysis

(2008) David R. Eyre et al.   METHODS