(Q24655306)

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Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

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Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment (English)

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Camurati-Engelmann disease

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based on heuristic

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object named as

T Cundy

15

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author name string

K Janssens

1

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F Vanhoenacker

2

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M Bonduelle

3

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L Verbruggen

4

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L Van Maldergem

5

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S Ralston

6

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N Guañabens

7

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N Migone

8

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S Wientroub

9

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M T Divizia

10

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C Bergmann

11

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C Bennett

12

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S Simsek

13

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S Melançon

14

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W Van Hul

16

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language of work or name

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publication date

January 2006

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Journal of Medical Genetics

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43

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1-11

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1

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The latent transforming growth factor beta binding protein (LTBP) family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

7 April 2017

Glucocorticoid receptor inhibits transforming growth factor-beta signaling by directly targeting the transcriptional activation function of Smad3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

7 April 2017

Betaglycan can act as a dual modulator of TGF-beta access to signaling receptors: mapping of ligand binding and GAG attachment sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

7 April 2017

Increased bone mass is an unexpected phenotype associated with deletion of the calcitonin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

7 April 2017

Negative regulation of transforming growth factor-beta by the proteoglycan decorin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

7 April 2017

Dexamethasone reverses TGF-beta-mediated inhibition of primary rat preadipocyte differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

7 April 2017

Vitamin D3 metabolites regulate LTBP1 and latent TGF-beta1 expression and latent TGF-beta1 incorporation in the extracellular matrix of chondrocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

7 April 2017

Progressive diaphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Transforming growth factor-beta1 to the bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Bisphosphonate treatment of osteoporosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Transforming growth factor-beta inhibits adipocyte differentiation by Smad3 interacting with CCAAT/enhancer-binding protein (C/EBP) and repressing C/EBP transactivation function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

The analgesic role of calcitonin following osteoporotic fracture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Forty years of calcitonin--where are we now? A tribute to the work of Iain Macintyre, FRS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Transcriptional and post-transcriptional mechanisms of glucocorticoid antiproliferative effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Glucocorticoid activity, inactivity and the osteoblast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Inhibition of osteoblastogenesis and promotion of apoptosis of osteoblasts and osteocytes by glucocorticoids. Potential mechanisms of their deleterious effects on bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Differential effect of glucocorticoids on calcium absorption and bone mass

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Engelmann's disease of bone--a systemic disorder?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Progressive diaphyseal dysplasia: evaluation of corticosteroid therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Role of transforming growth factor-beta in the development of the mouse embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Type beta transforming growth factor is an inhibitor of myogenic differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Type beta transforming growth factor controls the adipogenic differentiation of 3T3 fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Expression of transforming growth factor-beta 1 in specific cells and tissues of adult and neonatal mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Complementary DNA cloning of the murine transforming growth factor-beta 3 (TGF beta 3) precursor and the comparative expression of TGF beta 3 and TGF beta 1 messenger RNA in murine embryos and adult tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Immunohistochemical localization of TGF beta 1, TGF beta 2, and TGF beta 3 in the mouse embryo: expression patterns suggest multiple roles during embryonic development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Glucocorticoid regulation of transforming growth factor beta 1 activity and binding in osteoblast-enriched cultures from fetal rat bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Dexamethasone enhancement of betaglycan (TGF-beta type III receptor) gene expression in osteoblast-like cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Characterization and autoregulation of latent transforming growth factor beta (TGF beta) complexes in osteoblast-like cell lines. Production of a latent complex lacking the latent TGF beta-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 September 2017

Progressive diaphyseal dysplasia: Camurati-Engelmann's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

30 May 2018

Latent forms of transforming growth factor-beta (TGF beta) derived from bone cultures: identification of a naturally occurring 100-kDa complex with similarity to recombinant latent TGF beta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

30 May 2018

Clinical and biochemical studies in Engelmann's disease (progressive diaphyseal dysplasia)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

30 May 2018

Transforming growth factor-beta-induced inhibition of myogenesis is mediated through Smad pathway and is modulated by microtubule dynamic stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 November 2018

Dexamethasone enhances osteoclast formation synergistically with transforming growth factor-beta by stimulating the priming of osteoclast progenitors for differentiation into osteoclasts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 November 2018

Long-term linear growth of children with severe steroid-responsive nephrotic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 November 2018

Effect of corticosteroids on human osteoclast formation and activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 November 2018

α2-HS Glycoprotein/Fetuin, a Transforming Growth Factor-β/Bone Morphogenetic Protein Antagonist, Regulates Postnatal Bone Growth and Remodeling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 November 2018

Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 November 2018

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 November 2018

Reduction in transforming growth factor beta receptor I expression and transcription factor CBFa1 on bone cells by glucocorticoid.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 November 2018

Progressive diaphyseal dysplasia: a three-generation family with markedly variable expressivity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 November 2018

Latent transforming growth factor-beta in serum. A specific complex with alpha 2-macroglobulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564495

28 November 2018

Camurati-Engelmann's disease. A case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Camurati-Engelmann disease. Effects of corticosteroids

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Camurati-Engelmann disease: contribution of bone scintigraphy to genetic counseling

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glucocorticoid-induced activation of latent transforming growth factor-beta by normal human osteoblast-like cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Case for Diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical markers of bone turnover in Camurati-Engelmann disease: a report on four cases in one family

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pamidronate in the treatment of progressive diaphyseal dysplasia (Camurati-Engelmann disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful treatment with corticosteroid in a patient with progressive diaphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and scintigraphic evaluation of corticosteroid treatment in a case of progressive diaphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Embryonic expression pattern of TGF beta type-1 RNA suggests both paracrine and autocrine mechanisms of action

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894597

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.033522

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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