Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

(2013) José A. Caparrós-Martin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2013) Aileen M. Barnes et al.   HUMAN MUTATION

New Genes in Bone Development: What's New in Osteogenesis Imperfecta

(2013) Joan C. Marini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Musculoskeletal Functional Outcomes in Children With Osteogenesis Imperfecta

(2013) Ted Sousa et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

(2013) Nick Bishop et al.   LANCET

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

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

Recessively Inherited Forms of Osteogenesis Imperfecta

(2012) Peter H. Byers et al.   Annual Review of Genetics

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

Safety and efficacy of a 1-year treatment with zoledronic acid compared with pamidronate in children with osteogenesis imperfecta

(2012) Elizabete Ribeiro Barros et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

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

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

(2011) Giacomo Venturi et al.   BONE

Endoplasmic reticulum stress or mutation of an EF-hand Ca2+-binding domain directs the FKBP65 rotamase to an ERAD-based proteolysis

(2011) Lindsey A. Murphy et al.   CELL STRESS & CHAPERONES

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

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

Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome)

(2010) Denis Viljoen et al.   CLINICAL GENETICS

Bone resorption assessed by immunoassay of urinary cross-linked collagen peptides in patients with osteogenesis imperfecta

(2010) Rolf E. Brenner et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Universal standardization for dual X-ray absorptiometry: Patient and phantom cross-calibration results

(2010) Harry K. Genant 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

Common allelic variants of the farnesyl diphosphate synthase gene influence the response of osteoporotic women to bisphosphonates

(2010) J M Olmos et al.   PHARMACOGENOMICS JOURNAL

Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita

(2009) H. Yapicioğlu et al.   ANNALS OF TROPICAL PAEDIATRICS

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

Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment

(2008) Nesibe Andiran et al.   PEDIATRICS INTERNATIONAL