(Q35229875)

7 August 2017

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome (English)

1 reference

7 August 2017

osteogenesis imperfecta

0 references

1 reference

9

Lionel Van Maldergem

0 references

Andrea Superti-Furga

15

Andrea Superti-Furga

0 references

Anne De Paepe

16

Anne De Paepe

0 references

Fransiska Malfait

2

Christine Verellen-Dumoulin

Fransiska Malfait

0 references

10

Christine Verellen-Dumoulin

1 reference

7 August 2017

Brian P Kelley

1

1 reference

7 August 2017

Luisa Bonafe

3

1 reference

7 August 2017

Dustin Baldridge

4

1 reference

7 August 2017

Erica Homan

5

1 reference

7 August 2017

Sofie Symoens

6

1 reference

7 August 2017

Andy Willaert

7

1 reference

7 August 2017

Nursel Elcioglu

8

1 reference

7 August 2017

Yves Gillerot

11

1 reference

7 August 2017

Dobrawa Napierala

12

1 reference

7 August 2017

Deborah Krakow

13

1 reference

7 August 2017

Peter Beighton

14

1 reference

7 August 2017

Brendan Lee

17

1 reference

7 August 2017

1 March 2011

1 reference

Journal of Bone and Mineral Research

7 August 2017

1 reference

7 August 2017

26

1 reference

7 August 2017

3

1 reference

7 August 2017

666-672

1 reference

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

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

PPIB mutations cause severe osteogenesis imperfecta

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

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.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Type I collagen in Hsp47-null cells is aggregated in endoplasmic reticulum and deficient in N-propeptide processing and fibrillogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Bruck syndrome: congenital joint contractures with bone fragility

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Identification of tropoelastin as a ligand for the 65-kD FK506-binding protein, FKBP65, in the secretory pathway

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Analysis of the Crosslinking Components in Collagen and Elastin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Cross-linking in collagen and elastin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Enzymatic and nonenzymatic cross-linking of collagen and elastin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

Chicken FK506-binding protein, FKBP65, a member of the FKBP family of peptidylprolyl cis-trans isomerases, is only partially inhibited by FK506.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179293

26 September 2018

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.250

Quantitation of hydroxypyridinium crosslinks in collagen by high-performance liquid chromatography

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20839288

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Low-angle X-ray diffraction analysis of the collagen-proteoglycan interactions in articular cartilage

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20839288

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20839288

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/JBMR.250

1 reference

7 August 2017

1 reference

7 August 2017

1 reference