(Q35132933)

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The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

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Europe PubMed Central

PubMed publication ID

6 August 2017

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V (English)

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Europe PubMed Central

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6 August 2017

osteogenesis imperfecta

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4

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Gareth Baynam

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6 August 2017

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Gethin Thomas

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Emma L Duncan

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Matthew A. Brown

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Matthew A Brown

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Aideen M McInerney-Leo

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Aideen M McInerney-Leo

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ORCID Public Data File 2021

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Craig F Munns

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6 August 2017

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Syndia Lazarus

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6 August 2017

Fiona A McKenzie

3

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6 August 2017

Stephanie Broley

5

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6 August 2017

Barbra V Cavan

6

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6 August 2017

Johannes Egbertus Hans Pruijs

8

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6 August 2017

David Sillence

9

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6 August 2017

Paulien A Terhal

10

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6 August 2017

Karena Pryce

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6 August 2017

Andreas Zankl

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6 August 2017

publication date

27 March 2014

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6 August 2017

BMC Musculoskeletal Disorders

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6 August 2017

15

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6 August 2017

107

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6 August 2017

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

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=3986707

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

New perspectives on osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

A Remarkable Case of Diffuse Cancellous Osteoma of the Femur, following a Fracture, in which similar growths afterwards developed in connection with other bones.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

Classification of Osteogenesis Imperfecta revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

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

1 reference

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28 July 2018

Bril: a novel bone-specific modulator of mineralization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

Clinical and radiological manifestations of osteogenesis imperfecta type V.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

27 September 2018

Genotype-phenotype study in type V osteogenesis imperfecta.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

27 September 2018

Natural antisense transcripts enhance bone formation by increasing sense IFITM5 transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

27 September 2018

Nosology and classification of genetic skeletal disorders: 2010 revision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

27 September 2018

Radial head dislocation and subluxation in osteogenesis imperfecta.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

27 September 2018

Cyclic bisphosphonate therapy in osteogenesis imperfecta type V.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3986707

27 September 2018

Identifiers

10.1186/1471-2474-15-107

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Europe PubMed Central

PubMed publication ID

6 August 2017

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

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