Osteogenesis imperfecta, an ever-expanding conundrum. (Q46031481)

18 December 2017

title

Osteogenesis imperfecta, an ever-expanding conundrum. (English)

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18 December 2017

main subject

osteogenesis imperfecta

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author name string

Francis H Glorieux

series ordinal

1

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18 December 2017

Pierre Moffatt

series ordinal

2

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18 December 2017

publication date

1 July 2013

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18 December 2017

Journal of Bone and Mineral Research

published in

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18 December 2017

volume

28

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18 December 2017

page(s)

1519-1522

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18 December 2017

issue

7

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18 December 2017

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

cites work

1 reference

New perspectives on osteogenesis imperfecta

21 January 2018

1 reference

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

21 January 2018

1 reference

A mouse model for human osteogenesis imperfecta type VI.

21 January 2018

1 reference

Type V osteogenesis imperfecta: a new form of brittle bone disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Bril: a novel bone-specific modulator of mineralization

21 January 2018

1 reference

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

21 January 2018

1 reference

Engineered viruses to select genes encoding secreted and membrane-bound proteins in mammalian cells

21 January 2018

1 reference

Evolution of vertebrate interferon inducible transmembrane proteins

21 January 2018

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The dispanins: a novel gene family of ancient origin that contains 14 human members

21 January 2018

1 reference

The IFITM proteins mediate cellular resistance to influenza A H1N1 virus, West Nile virus, and dengue virus

21 January 2018

1 reference

Palmitoylome profiling reveals S-palmitoylation-dependent antiviral activity of IFITM3

21 January 2018

1 reference

The N-terminal region of IFITM3 modulates its antiviral activity by regulating IFITM3 cellular localization

21 January 2018

1 reference

S-palmitoylation and ubiquitination differentially regulate interferon-induced transmembrane protein 3 (IFITM3)-mediated resistance to influenza virus

21 January 2018

1 reference

Ifitm3 limits the severity of acute influenza in mice

21 January 2018

1 reference

Regulation of the bone-restricted IFITM-like (Bril) gene transcription by Sp and Gli family members and CpG methylation

21 January 2018

1 reference

The effects of PEDF on cancer biology: mechanisms of action and therapeutic potential

21 January 2018

1 reference

Characterization of PEDF: a multi-functional serpin family protein

21 January 2018

1 reference

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

21 January 2018

1 reference

Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen

21 January 2018

1 reference

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

21 January 2018

1 reference

PEDF-deficient mice exhibit an enhanced rate of retinal vascular expansion and are more sensitive to hyperoxia-mediated vessel obliteration

21 January 2018

1 reference

Isolation, purification, and characterization of a collagen-associated serpin, caspin, produced by murine colon adenocarcinoma cells

21 January 2018

1 reference

Osteoblasts and osteoclasts express PEDF, VEGF-A isoforms, and VEGF receptors: possible mediators of angiogenesis and matrix remodeling in the bone

21 January 2018

1 reference

Localization of pigment epithelium-derived factor in growing mouse bone.

21 January 2018

1 reference

New insights into NPP1 function: lessons from clinical and animal studies

21 January 2018

1 reference

Pigment epithelium-derived factor (PEDF) interacts with transportin SR2, and active nuclear import is facilitated by a novel nuclear localization motif

21 January 2018

1 reference

Identification of a lipase-linked cell membrane receptor for pigment epithelium-derived factor

21 January 2018

1 reference

Pigment epithelium-derived factor binds to cell-surface F(1)-ATP synthase.

21 January 2018

1 reference

Laminin receptor involvement in the anti-angiogenic activity of pigment epithelium-derived factor

21 January 2018

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Defective lipolysis and altered energy metabolism in mice lacking adipose triglyceride lipase

21 January 2018

1 reference

Identification of a novel inhibitor of the canonical Wnt pathway

21 January 2018

1 reference

WNT signaling in bone homeostasis and disease: from human mutations to treatments

21 January 2018

1 reference

Mutations in WNT1 cause different forms of bone fragility

21 January 2018

1 reference

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

21 January 2018

1 reference

Enzyme replacement therapy for murine hypophosphatasia

21 January 2018

1 reference

Enzyme-replacement therapy in life-threatening hypophosphatasia.

21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/JBMR.1982

1 reference

18 December 2017

PubMed ID

23696068

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18 December 2017