(Q26853357)

main subject

osteogenesis imperfecta

0 references

author name string

K. Lindahl

1

1 reference

B. Langdahl

2

1 reference

O. Ljunggren

3

1 reference

A. Kindmark

4

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language of work or name

1 reference

August 2014

1 reference

European Journal of Endocrinology

published in

1 reference

volume

171

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issue

2

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page(s)

R79-90

1 reference

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

cites work

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Osteogenesis imperfecta Type IIA and pulmonary hypoplasia with normal alveolar development

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

The 25(OH)D level needed to maintain a favorable bisphosphonate response is ≥33 ng/ml

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

A controlled study of the effects of alendronate in a growing mouse model of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Bone mineral density and fracture rate in response to intravenous and oral bisphosphonates in adult osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Teriparatide Treatment in Adult Patients with Osteogenesis Imperfecta Type I

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Changing pattern of femoral fractures in osteogenesis imperfecta with prolonged use of bisphosphonates

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

NIH oversight of human gene transfer research involving retroviral, lentiviral, and adeno-associated virus vectors and the role of the NIH recombinant DNA advisory committee

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

PPIB mutations cause severe osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Vertebral morphometry in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate treatment

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

25 hydroxyvitamin D serum levels influence adequate response to bisphosphonate treatment in postmenopausal osteoporosis.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Effects of zoledronic acid in adults with osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Tooth extraction socket healing in pediatric patients treated with intravenous pamidronate

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Emerging therapeutic approaches for osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Induced pluripotent stem cells: past, present, and future

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

https://api.crossref.org/works/10.1530%2FEJE-14-0017

1 reference

7 January 2021

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

In vivo genome editing using a high-efficiency TALEN system

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Cell type-specific delivery of siRNAs with aptamer-siRNA chimeras

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

New perspectives on osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

RNAi of COL1A1 in mesenchymal progenitor cells

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Single-nucleotide-specific siRNA targeting in a dominant-negative skin model

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

PLS3 mutations in X-linked osteoporosis with fractures

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Determinants of specific RNA interference-mediated silencing of human beta-globin alleles differing by a single nucleotide polymorphism

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

In vivo competitive studies between normal and common gamma chain-defective bone marrow cells: implications for gene therapy

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

The Human Collagen Mutation Database 1998.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Fetal Mesenchymal Stem-Cell Engraftment in Bone after In Utero Transplantation in a Patient with Severe Osteogenesis Imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Birth prevalence rates of skeletal dysplasias.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Osteogenesis imperfecta: a genetic, radiological, and epidemiological study.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Osteogenesis imperfecta nosology and genetics

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Gene targeting in stem cells from individuals with osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Causes of death in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Recessively inherited forms of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Murine and math models for the level of stable mixed chimerism to cure beta-thalassemia by nonmyeloablative bone marrow transplantation.

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Clinical review 1: Bisphosphonate use in childhood osteoporosis

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Benefits and risks of bisphosphonate therapy for osteoporosis

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

New genes in bone development: what's new in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Intravenous neridronate in adults with osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Designing siRNA that distinguish between genes that differ by a single nucleotide

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Efficient allele-specific targeting of LRRK2 R1441 mutations mediated by RNAi

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Pamidronate treatment of osteogenesis imperfecta--lack of correlation between clinical severity, age at onset of treatment, predicted collagen mutation and treatment response

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

GH in combination with bisphosphonate treatment in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Future prospect of RNA interference for cancer therapies

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Zinc-finger nuclease based genome surgery: it's all about specificity

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Allele dependent silencing of collagen type I using small interfering RNAs targeting 3'UTR Indels - a novel therapeutic approach in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1530%2FEJE-14-0017

7 January 2021

Identifiers

1 reference

PubMed publication ID

24760541

1 reference