(Q45791787)

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

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

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

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

osteogenesis imperfecta

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author name string

Giacomo Venturi

1

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Alberto Gandini

2

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Elena Monti

3

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Luca Dalle Carbonare

4

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Massimiliano Corradi

5

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Monica Vincenzi

6

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Maria Teresa Valenti

7

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Maurizia Valli

8

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Enrico Pelilli

9

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Attilio Boner

10

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Monica Mottes

11

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Franco Antoniazzi

12

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

publication date

1 March 2012

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Journal of Bone and Mineral Research

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

27

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

3

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

723-728

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Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

PPIB mutations cause severe osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

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/10.1002%2FJBMR.1480

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

Normative data for iliac bone histomorphometry in growing children.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

The pathophysiological role of PEDF in bone diseases

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

Mapping the type I collagen-binding site on pigment epithelium-derived factor. Implications for its antiangiogenic activity

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

Pigment epithelium-derived factor (PEDF)-induced apoptosis and inhibition of vascular endothelial growth factor (VEGF) expression in MG63 human osteosarcoma cells

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

Structure-function relationships of PEDF.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

Pigment epithelium-derived factor as an anticancer drug and new treatment methods following the discovery of its receptors: a patent perspective

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.1480

21 January 2018

Identifiers

10.1002/JBMR.1480

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

http://europepmc.org/abstract/MED/22113968

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