(Q36709687)

English

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

scientific article published on 4 September 2012

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

15 August 2017

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen (English)

1 reference

Europe PubMed Central

15 August 2017

osteogenesis imperfecta

0 references

1 reference

based on heuristic

inferred from title

Arunkanth Ankala

object named as

Arunkanth Ankala

8

0 references

Kwame Anyane-Yeboa

object named as

Kwame Anyane-Yeboa

28

0 references

object named as

Gerard Pals

7

0 references

object named as

Peter H Byers

38

0 references

Robert D. Steiner

object named as

Robert D Steiner

25

0 references

29

object named as

Julia Wynn

1 reference

Europe PubMed Central

15 August 2017

Louanne Hudgins

21

object named as

Louanne Hudgins

1 reference

Europe PubMed Central

15 August 2017

author name string

Ulrike Schwarze

1

1 reference

Europe PubMed Central

15 August 2017

Tim Cundy

2

1 reference

Europe PubMed Central

15 August 2017

Shawna M Pyott

3

1 reference

Europe PubMed Central

15 August 2017

Helena E Christiansen

4

1 reference

Europe PubMed Central

15 August 2017

Madhuri R Hegde

5

1 reference

Europe PubMed Central

15 August 2017

Ruud A Bank

6

1 reference

Europe PubMed Central

15 August 2017

Karen Conneely

9

1 reference

Europe PubMed Central

15 August 2017

Laurie Seaver

10

1 reference

Europe PubMed Central

15 August 2017

Suzanne M Yandow

11

1 reference

Europe PubMed Central

15 August 2017

Ellen Raney

12

1 reference

Europe PubMed Central

15 August 2017

Dusica Babovic-Vuksanovic

13

1 reference

Europe PubMed Central

15 August 2017

Joan Stoler

14

1 reference

Europe PubMed Central

15 August 2017

Ziva Ben-Neriah

15

1 reference

Europe PubMed Central

15 August 2017

Reeval Segel

16

1 reference

Europe PubMed Central

15 August 2017

Sari Lieberman

17

1 reference

Europe PubMed Central

15 August 2017

Liesbeth Siderius

18

1 reference

Europe PubMed Central

15 August 2017

Aida Al-Aqeel

19

1 reference

Europe PubMed Central

15 August 2017

Mark Hannibal

20

1 reference

Europe PubMed Central

15 August 2017

Elizabeth McPherson

22

1 reference

Europe PubMed Central

15 August 2017

Michele Clemens

23

1 reference

Europe PubMed Central

15 August 2017

Michael D Sussman

24

1 reference

Europe PubMed Central

15 August 2017

John Mahan

26

1 reference

Europe PubMed Central

15 August 2017

Rosemarie Smith

27

1 reference

Europe PubMed Central

15 August 2017

Karen Chong

30

1 reference

Europe PubMed Central

15 August 2017

Tami Uster

31

1 reference

Europe PubMed Central

15 August 2017

Salim Aftimos

32

1 reference

Europe PubMed Central

15 August 2017

V Reid Sutton

33

1 reference

Europe PubMed Central

15 August 2017

Elaine C Davis

34

1 reference

Europe PubMed Central

15 August 2017

Lammy S Kim

35

1 reference

Europe PubMed Central

15 August 2017

Mary Ann Weis

36

1 reference

Europe PubMed Central

15 August 2017

David Eyre

37

1 reference

Europe PubMed Central

15 August 2017

publication date

4 September 2012

1 reference

Europe PubMed Central

15 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

15 August 2017

22

1 reference

Europe PubMed Central

15 August 2017

1-17

1 reference

Europe PubMed Central

15 August 2017

1

1 reference

Europe PubMed Central

15 August 2017

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity 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=3606010

30 September 2017

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

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=3606010

30 September 2017

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Mutations in the gene encoding the RER protein FKBP65 cause 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=3606010

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Advances in collagen cross-link analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Bruck syndrome: congenital joint contractures with bone fragility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Embryonic lethality of molecular chaperone hsp47 knockout mice is associated with defects in collagen biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Purification and partial characterization of small proteoglycans I and II, bone sialoproteins I and II, and osteonectin from the mineral compartment of developing human bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

30 September 2017

Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

28 June 2018

Biochemical characterization of the prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

28 June 2018

A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

5 September 2018

The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

5 September 2018

Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

5 September 2018

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606010

5 September 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS371

21 January 2018

Molecular site specificity of pyridinoline and pyrrole cross-links in type I collagen of human bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collagen cross-linking amino acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/22949511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDS371

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q36709687&oldid=2144977735"