(Q24336923)

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A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor

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scholarly article

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Europe PubMed Central

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7 March 2020

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24519609%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

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osteogenesis imperfecta

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Interferon induced transmembrane protein 5

1 reference

GOA release 2020-03-11

bone morphogenesis

1 reference

GOA release 2020-03-11

Charles R. Farber

1

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7 March 2020

Aileen M Barnes

3

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7 March 2020

5

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7 March 2020

Aaron R Quinlan

8

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7 March 2020

author name string

Adi Reich

2

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7 March 2020

Patricia Becerra

4

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7 March 2020

Wayne A Cabral

6

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7 March 2020

Alison Bae

7

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7 March 2020

Francis H Glorieux

9

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7 March 2020

Thomas L Clemens

10

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7 March 2020

Joan C Marini

11

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7 March 2020

language of work or name

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publication date

1 June 2014

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7 March 2020

Journal of Bone and Mineral Research

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7 March 2020

29

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7 March 2020

6

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7 March 2020

1402-1411

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7 March 2020

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

1 reference

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19 March 2017

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

1 reference

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19 March 2017

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19 March 2017

Genetic heterogeneity in osteogenesis imperfecta

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19 March 2017

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19 March 2017

Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice

1 reference

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19 March 2017

Characterization of PEDF: a multi-functional serpin family protein

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19 March 2017

Identification of a conserved cluster of skin-specific genes encoding secreted proteins

1 reference

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19 March 2017

Pigment epithelium-derived factor: a potent inhibitor of angiogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352343

19 March 2017

Mouse genome-wide association and systems genetics identify Asxl2 as a regulator of bone mineral density and osteoclastogenesis

1 reference

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19 March 2017

Bril: a novel bone-specific modulator of mineralization

1 reference

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19 March 2017

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7 April 2017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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7 April 2017

BEDTools: a flexible suite of utilities for comparing genomic features

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7 April 2017

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

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Interactome networks and human disease

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7 April 2017

Role of S-palmitoylation on IFITM5 for the interaction with FKBP11 in osteoblast cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352343

27 September 2017

Determination of mesenchymal stem cell fate by pigment epithelium-derived factor (PEDF) results in increased adiposity and reduced bone mineral content

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27 September 2017

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

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27 September 2017

Systems genetic analysis of osteoblast-lineage cells

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27 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352343

27 September 2017

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

1 reference

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27 September 2017

New perspectives on osteogenesis imperfecta

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27 September 2017

Pigment epithelium-derived factor regulates lipid metabolism via adipose triglyceride lipase

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27 September 2017

The pathophysiological role of PEDF in bone diseases

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27 September 2017

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27 September 2017

Pyrophosphate inhibits mineralization of osteoblast cultures by binding to mineral, up-regulating osteopontin, and inhibiting alkaline phosphatase activity

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27 September 2017

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.

1 reference

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27 September 2017

Osteogenesis imperfecta - Clinical and molecular diversity

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27 September 2017

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

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27 September 2017

Normative data for iliac bone histomorphometry in growing children.

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27 September 2017

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen

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27 September 2017

A mouse model for human osteogenesis imperfecta type VI.

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30 May 2018

Osteoblast-enriched membrane protein IFITM5 regulates the association of CD9 with an FKBP11-CD81-FPRP complex and stimulates expression of interferon-induced genes

1 reference

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30 May 2018

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

1 reference

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21 January 2018

Natural history of hyperplastic callus formation in osteogenesis imperfecta type V.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2173

21 January 2018

Human bone cellsin vitro.

2 references

https://api.crossref.org/works/10.1002%2FJBMR.2173

21 January 2018

https://pubmed.ncbi.nlm.nih.gov/24519609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of the mouse fragilis gene products in immune cells and association with receptor signaling complexes.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2173

21 January 2018

Pigment epithelium-derived factor enhances differentiation and mineral deposition of human mesenchymal stem cells.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2173

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2173

21 January 2018

Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24519609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI

1 reference

https://pubmed.ncbi.nlm.nih.gov/24519609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PEDF regulates osteoclasts via osteoprotegerin and RANKL

1 reference

https://pubmed.ncbi.nlm.nih.gov/24519609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Topological mapping of BRIL reveals a type II orientation and effects of osteogenesis imperfecta mutations on its cellular destination

1 reference

https://pubmed.ncbi.nlm.nih.gov/24519609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/JBMR.2173

1 reference

Europe PubMed Central

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7 March 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24519609%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

Europe PubMed Central

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7 March 2020

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