(Q41010291)

25 September 2017

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization (English)

1 reference

25 September 2017

osteogenesis imperfecta

0 references

author

Frank Rauch

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Nadja Fratzl-Zelman

1

1 reference

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10 June 2020

Aileen M Barnes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

10

Klaus Klaushofer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

11

Francis H Glorieux

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

3

MaryAnn Weis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

13

Cathleen Raggio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

9

Paul Roschger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

5

Theresa E Hefferan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

15

Joan C Marini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Erin Carter

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Giorgio Perino

6

1 reference

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10 June 2020

Weizhong Chang

7

1 reference

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10 June 2020

Peter A Smith

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

David R Eyre

12

1 reference

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10 June 2020

language of work or name

English

0 references

publication date

6 July 2016

1 reference

The Journal of Clinical Endocrinology and Metabolism

25 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

101

1 reference

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10 June 2020

issue

9

1 reference

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10 June 2020

page(s)

3516-3525

1 reference

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describes a project that uses

10 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5010570/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.

1 reference

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Bisphosphonate therapy for osteogenesis imperfecta

26 September 2017

1 reference

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Collagen prolyl 3-hydroxylation: a major role for a minor post-translational modification?

26 September 2017

1 reference

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Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene

26 September 2017

1 reference

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Standardized nomenclature, symbols, and units for bone histomorphometry: a 2012 update of the report of the ASBMR Histomorphometry Nomenclature Committee

26 September 2017

1 reference

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A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta

26 September 2017

1 reference

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Generalized connective tissue disease in Crtap-/- mouse

26 September 2017

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Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones

26 September 2017

1 reference

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Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

26 September 2017

1 reference

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CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII

26 September 2017

1 reference

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Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

26 September 2017

1 reference

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Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults

26 September 2017

1 reference

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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

26 September 2017

1 reference

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Bone mineralization density distribution in health and disease.

26 September 2017

1 reference

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Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

26 September 2017

1 reference

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

26 September 2017

1 reference

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Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010570

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

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010570

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

26 September 2017

1 reference

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The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta

26 September 2017

1 reference

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Normative data for iliac bone histomorphometry in growing children.

26 September 2017

1 reference

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Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.

26 September 2017

1 reference

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Bone matrix hypermineralization in prolyl-3 hydroxylase 1 deficient mice.

15 June 2018

1 reference

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Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations

19 August 2018

1 reference

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A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

19 August 2018

1 reference

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Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

19 August 2018

1 reference

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Large osteoclasts in pediatric osteogenesis imperfecta patients receiving intravenous pamidronate

19 August 2018

1 reference

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Leprecan distribution in the developing and adult kidney.

19 August 2018

1 reference

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Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome

19 August 2018

1 reference

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Differential effects of alendronate treatment on bone from growing osteogenesis imperfecta and wild-type mouse

19 August 2018

1 reference

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Inhibition of bone resorption by alendronate and risedronate does not require osteoclast apoptosis

19 August 2018

1 reference

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Static and dynamic bone histomorphometry in children with osteogenesis imperfecta.

19 August 2018

1 reference

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The microscopic structure of bone in normal children and patients with osteogenesis imperfecta: a survey using backscattered electron imaging.

19 August 2018

1 reference

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Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

19 August 2018

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12 December 2020

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

1 reference

12 December 2020

Validation of quantitative backscattered electron imaging for the measurement of mineral density distribution in human bone biopsies

1 reference

12 December 2020

Sonographic measurements and appearance of normal kidneys in children

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12 December 2020

Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations

1 reference

12 December 2020

Structural and cellular changes during bone growth in healthy children

1 reference

12 December 2020

Pamidronate does not adversely affect bone intrinsic material properties in children with osteogenesis imperfecta

1 reference

12 December 2020

Sex- and age-specific reference curves for serum markers of bone turnover in healthy children from 2 months to 18 years

1 reference

12 December 2020

Osteogenesis imperfecta

1 reference

12 December 2020

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings

1 reference

12 December 2020

Bisphosphonate treatment of children and adults with osteogenesis imperfecta: unanswered questions

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2016-1334

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27383115%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

PubMed publication ID

27383115

1 reference