(Q34080220)

30 July 2017

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta (English)

1 reference

30 July 2017

osteogenesis imperfecta

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author name string

Ortrud K Steinlein

1

1 reference

30 July 2017

Eric Aichinger

2

1 reference

30 July 2017

Holger Trucks

3

1 reference

30 July 2017

Thomas Sander

4

1 reference

30 July 2017

22 November 2011

1 reference

30 July 2017

1 reference

30 July 2017

12

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30 July 2017

152

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-12-152

30 July 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

PPIB mutations cause severe osteogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

HomozygosityMapper--an interactive approach to homozygosity mapping

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

A systematic approach to mapping recessive disease genes in individuals from outbred populations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

GeneDistiller--distilling candidate genes from linkage intervals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

Specific recognition of the collagen triple helix by chaperone HSP47. II. The HSP47-binding structural motif in collagens and related proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

A perfect message: RNA surveillance and nonsense-mediated decay

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270005

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-12-152

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22107750

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-12-152

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference