(Q36152886)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

case report

0 references

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

main subject

osteogenesis imperfecta

0 references

author

Tae-Joon Cho

1

1 reference

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9 February 2020

author name string

Kyung-Eun Lee

2

1 reference

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9 February 2020

Sook-Kyung Lee

3

1 reference

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9 February 2020

Su Jeong Song

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Kyung Jin Kim

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Daehyun Jeon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Gene Lee

7

1 reference

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9 February 2020

Ha-Neui Kim

8

1 reference

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9 February 2020

Hye Ran Lee

9

1 reference

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9 February 2020

Hye-Hyun Eom

10

1 reference

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9 February 2020

Zang Hee Lee

11

1 reference

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9 February 2020

Ok-Hwa Kim

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Woong-Yang Park

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Sung Sup Park

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Shiro Ikegawa

15

1 reference

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9 February 2020

Won Joon Yoo

16

1 reference

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9 February 2020

In Ho Choi

17

1 reference

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9 February 2020

Jung-Wook Kim

18

1 reference

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9 February 2020

language of work or name

English

0 references

publication date

2 August 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

9 February 2020

published in

1 reference

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9 February 2020

volume

91

1 reference

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9 February 2020

issue

2

1 reference

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9 February 2020

page(s)

343-348

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

Recent advances in osteogenesis imperfecta.

9 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

New perspectives on osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

Classification of Osteogenesis Imperfecta revisited

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

PPIB mutations cause severe osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

Bril: a novel bone-specific modulator of mineralization

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

Clinical and radiological manifestations of osteogenesis imperfecta type V.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

2 October 2017

Osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

Genetic heterogeneity in osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

Nosology and classification of genetic skeletal disorders: 2010 revision.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415533

10.1016/J.AJHG.2012.06.005

23 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22863190%20AND%20SRC:MED&resulttype=core&format=json