(Q38025998)

27 August 2017

Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings (English)

1 reference

27 August 2017

osteogenesis imperfecta

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author name string

Marianne Rohrbach

series ordinal

1

1 reference

PubMed ID

22791419

27 August 2017

Cecilia Giunta

series ordinal

2

1 reference

27 August 2017

12 July 2012

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

27 August 2017

1 reference

27 August 2017

160C

1 reference

27 August 2017

3

1 reference

27 August 2017

175-189

1 reference

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

27 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Early bisphosphonate treatment in infants with severe osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Generalized connective tissue disease in Crtap-/- mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Clinical epidemiology of skeletal dysplasias in South America.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

RANKL inhibition improves bone properties in a mouse model of osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Valvular heart disease in osteogenesis imperfecta: presentation of a case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Safety and efficacy of intravenous zoledronic acid in paediatric osteoporosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Procollagen trafficking, processing and fibrillogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Severe osteogenesis imperfecta in cyclophilin B-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Lrp5 functions in bone to regulate bone mass

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Pigment epithelium–derived factor regulates the vasculature and mass of the prostate and pancreas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Alendronate mechanism of action: geranylgeraniol, an intermediate in the mevalonate pathway, prevents inhibition of osteoclast formation, bone resorption, and kinase activation in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

New perspectives on osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Cyclic administration of pamidronate in children with severe osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Biochemical characterization of the prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Specific recognition of the collagen triple helix by chaperone HSP47: minimal structural requirement and spatial molecular orientation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Specific recognition of the collagen triple helix by chaperone HSP47. II. The HSP47-binding structural motif in collagens and related proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Hearing loss in children with osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Scanning electron microscopy of teeth in osteogenesis imperfecta type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Procollagen triple helix assembly: an unconventional chaperone-assisted folding paradigm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Chaperoning osteogenesis: new protein-folding disease paradigms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

The growth hormone and somatomedin axis in short children with osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Osteogenesis imperfecta:epidemiology and pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Causes of death in osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

RNAi of COL1A1 in mesenchymal progenitor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Emerging therapeutic approaches for osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Collagens, modifying enzymes and their mutations in humans, flies and worms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

The 26 S proteasome: from basic mechanisms to drug targeting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Evaluation of oral problems in an osteogenesis imperfecta population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Sclerostin: a gem from the genome leads to bone-building antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Bisphosphonate therapy for osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Collagens: molecular biology, diseases, and potentials for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

21 January 2018

Osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Novel therapeutic strategies for the treatment of protein-misfolding diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Genetic heterogeneity in osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

PPIB mutations cause severe osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Osteogenesis imperfecta type III: an ancient mutation in Africa?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Antisense oligodeoxynucleotides selectively suppress expression of the mutant alpha 2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts. A molecular approach to therapeutics of dominant negative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Nosology and classification of genetic skeletal disorders: 2010 revision.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

Intravenous Neridronate in Children With Osteogenesis Imperfecta: A Randomized Controlled Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31334

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31334

1 reference

27 August 2017

1 reference

PubMed ID

22791419