(Q33772970)

29 July 2017

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

1 reference

29 July 2017

osteogenesis imperfecta

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12

Andrea Superti-Furga

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Peter H. Byers

16

object named as

Peter H Byers

1 reference

29 July 2017

Amy E Merrill

20

0 references

Leena Bruckner-Tuderman

13

object named as

Leena Bruckner-Tuderman

1 reference

29 July 2017

Yasemin Alanay

1

1 reference

29 July 2017

Hrispima Avaygan

2

1 reference

29 July 2017

Natalia Camacho

3

1 reference

29 July 2017

G Eda Utine

4

1 reference

29 July 2017

Koray Boduroglu

5

1 reference

29 July 2017

Dilek Aktas

6

1 reference

29 July 2017

Mehmet Alikasifoglu

7

1 reference

29 July 2017

Ergul Tuncbilek

8

1 reference

29 July 2017

Diclehan Orhan

9

1 reference

29 July 2017

Filiz Tiker Bakar

10

1 reference

29 July 2017

Bernard Zabel

11

1 reference

29 July 2017

Cindy J R Curry

14

1 reference

29 July 2017

Shawna Pyott

15

1 reference

29 July 2017

David R Eyre

17

1 reference

29 July 2017

Dustin Baldridge

18

1 reference

29 July 2017

Brendan Lee

19

1 reference

29 July 2017

Elaine C Davis

21

1 reference

29 July 2017

Daniel H Cohn

22

1 reference

29 July 2017

Nurten Akarsu

23

1 reference

29 July 2017

Deborah Krakow

24

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 April 2010

1 reference

American Journal of Human Genetics

29 July 2017

1 reference

29 July 2017

86

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29 July 2017

551-559

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29 July 2017

4

1 reference

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

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Procollagen triple helix assembly: an unconventional chaperone-assisted folding paradigm

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Developmental regulation and coordinate reexpression of FKBP65 with extracellular matrix proteins after lung injury suggest a specialized function for this endoplasmic reticulum immunophilin

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Procollagen trafficking, processing and fibrillogenesis.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

HSP47 as a collagen-specific molecular chaperone: function and expression in normal mouse development

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Collagens, modifying enzymes and their mutations in humans, flies and worms

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Genomic organization of mouse and human 65 kDa FK506-binding protein genes and evolution of the FKBP multigene family

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Developmental regulation of FKBP65. An ER-localized extracellular matrix binding-protein

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Procollagen folding and assembly: the role of endoplasmic reticulum enzymes and molecular chaperones

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Intracellular interaction of collagen-specific stress protein HSP47 with newly synthesized procollagen

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

Collagen Glycosyltransferases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850430

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20362275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.02.022

1 reference

29 July 2017

1 reference

29 July 2017

1 reference