(Q24629521)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Mutations in SERPINF1 cause osteogenesis imperfecta type VI (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

main subject

osteogenesis imperfecta

0 references

author

Frank Rauch

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Caressa Lietman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Dobrawa Napierala

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

10

Richard Gibbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Erica P Homan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Ingo Grafe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jennifer A Doll

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Brian Dawson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Terry Bertin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Roy Morello

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Lisa White

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Rika Miki

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Daniel H Cohn

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Susan Crawford

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Rose Travers

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Francis H Glorieux

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Brendan Lee

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

English

0 references

publication date

1 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

Journal of Bone and Mineral Research

9 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

2798-2803

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive 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=3214246

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Osteoblasts and osteoclasts express PEDF, VEGF-A isoforms, and VEGF receptors: possible mediators of angiogenesis and matrix remodeling in the bone

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Bisphosphonates for osteoporosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Phosphomimetic mutants of pigment epithelium-derived factor with enhanced antiangiogenic activity as potent anticancer agents

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Anti-chondrosarcoma effects of PEDF mediated via molecules important to apoptosis, cell cycling, adhesion and invasion.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

The importance of proline residues in the structure, stability and susceptibility to proteolytic degradation of collagens

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

PEDF-derived synthetic peptides exhibit antitumor activity in an orthotopic model of human osteosarcoma.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Osteogenesis imperfecta, current and future medical treatment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Procollagen trafficking, processing and fibrillogenesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

27 September 2017

Osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Mapping the type I collagen-binding site on pigment epithelium-derived factor. Implications for its antiangiogenic activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214246

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta.

27 September 2017

1 reference

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

21 January 2018

1 reference

Serum pigment epithelium-derived factor is elevated in women with polycystic ovary syndrome and correlates with insulin resistance

21 January 2018

1 reference

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

21 January 2018

1 reference

Osteogenesis imperfecta type VI in childhood and adolescence: effects of cyclical intravenous pamidronate treatment

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21826736

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

PEDF regulates osteoclasts via osteoprotegerin and RANKL

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21826736

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/JBMR.487

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826736%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

21826736

2 references