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bruck syndrome

National Institutes of Health

Papers overview

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2017
2017
Novel Mutations in PLOD2 Cause Rare Bruck Syndrome
Bruck syndrome is a rare autosomal recessive form of osteogenesis imperfecta (OI), which is mainly characterized by joint… 
Highly Cited
2016
Highly Cited
2016
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome
Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical… 
Highly Cited
2016
Highly Cited
2016
Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2
Significance Collagens are structural extracellular matrix proteins that provide mechanical support to tissues. To gain stability… 
2014
2014
Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients
Bruck syndrome (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple… 
2013
2013
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations
Autosomal recessive osteogenesis imperfecta (AR‐OI) is an inherited condition which in recent years has been shown with… 
2012
2012
Lysyl hydroxylases 1 and 2 : characterization of their in vivo roles in mouse and the molecular level consequences of the lysyl hydroxylase 2 mutations found in Bruck syndrome
The extracellular matrix is not just a scaffold for cells and tissues, but rather a dynamic part of the human body… 
Highly Cited
2010
Highly Cited
2010
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?
2009
2009
Missense Mutations That Cause Bruck Syndrome Affect Enzymatic Activity, Folding, and Oligomerization of Lysyl Hydroxylase 2*
Bruck syndrome is a rare autosomal recessive connective tissue disorder characterized by fragile bones, joint contractures… 
Review
2007
Review
2007
84 BRUCK SYNDROME: A RARE COMBINATION OF CONGENITAL CONTRACTURES AND BONE FRAGILITY.
There are 21 reported cases of Bruck syndrome (BS), a rare autosomal recessive condition characterized by congenital contractures… 
2004
2004
Phenotypic and Molecular Characterization of Bruck Syndrome ( Osteogenesis Imperfecta With Contractures of the Large Joints ) Caused by a Recessive Mutation in PLOD 2
Russia Ha-Vinh, Yasemin Alanay, Ruud A. Bank, Ana Belinda Campos-Xavier, Andreas Zankl, Andrea Superti-Furga,* and Luisa Bonaf… 
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