(Q46802209)

25 December 2017

title

Brachydactyly type A2 associated with a defect in proGDF5 processing (English)

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25 December 2017

main subject

brachydactyly type A2

1 reference

Petra Seemann

2

0 references

Stefan Mundlos

8

object named as

Stefan Mundlos

1 reference

25 December 2017

author name string

Frank Plöger

1

1 reference

25 December 2017

Mareen Schmidt-von Kegler

3

1 reference

25 December 2017

Katarina Lehmann

4

1 reference

25 December 2017

Jörg Seidel

5

1 reference

25 December 2017

Klaus W Kjaer

6

1 reference

25 December 2017

Jens Pohl

7

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25 December 2017

publication date

18 January 2008

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25 December 2017

published in

Human Molecular Genetics

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25 December 2017

volume

17

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25 December 2017

issue

9

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25 December 2017

page(s)

1222-1233

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25 December 2017

Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

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1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Recombinant human growth/differentiation factor 5 stimulates mesenchyme aggregation and chondrogenesis responsible for the skeletal development of limbs.

21 January 2018

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Spinal fusion with recombinant human growth and differentiation factor-5 combined with a mineralized collagen matrix

21 January 2018

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GDF5 coordinates bone and joint formation during digit development

21 January 2018

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Quantitative analysis of gene expression in a rabbit model of intervertebral disc degeneration by real-time polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Trophic and protective effects of growth/differentiation factor 5, a member of the transforming growth factor-beta superfamily, on midbrain dopaminergic neurons

21 January 2018

1 reference

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The role of growth/differentiation factor 5 (GDF5) in the induction and survival of midbrain dopaminergic neurones: relevance to Parkinson's disease treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Cloning and expression of recombinant human growth/differentiation factor 5

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

BMP-4 is proteolytically activated by furin and/or PC6 during vertebrate embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Precursor convertases in the secretory pathway, cytosol and extracellular milieu

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Proprotein and prohormone convertases: a family of subtilases generating diverse bioactive polypeptides

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

CDMP1/GDF5 has specific processing requirements that restrict its action to joint surfaces

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Secretory proprotein convertases PACE4 and PC6A are heparin-binding proteins which are localized in the extracellular matrix. Potential role of PACE4 in the activation of proproteins in the extracellular matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Holy Tolloido: Tolloid cleaves SOG/Chordin to free DPP/BMPs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Smad transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Genetic disorders of the skeleton: a developmental approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Genetics of congenital hand anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

21 January 2018

1 reference

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Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Monomeric and dimeric GDF-5 show equal type I receptor binding and oligomerization capability and have the same biological activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Biophysical comparison of BMP-2, ProBMP-2, and the free pro-peptide reveals stabilization of the pro-peptide by the mature growth factor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Characterization of a secreted form of human furin endoprotease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Pro-sequence assisted folding and disulfide bond formation of human nerve growth factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Expression of growth differentiation factor-5 in the developing and adult rat brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Optimized procedure for renaturation of recombinant human bone morphogenetic protein-2 at high protein concentration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Regulation of bone morphogenetic protein activity by pro domains and proprotein convertases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Bone morphogenetic proteins 2 and 6, expressed in arthritic synovium, are regulated by proinflammatory cytokines and differentially modulate fibroblast-like synoviocyte apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Release of active and depot GDF-5 after adenovirus-mediated overexpression stimulates rabbit and human intervertebral disc cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

2002 SSE Award Competition in Basic Science: expression of major matrix metalloproteinases is associated with intervertebral disc degradation and resorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Crystal structure of recombinant human growth and differentiation factor 5: evidence for interaction of the type I and type II receptor-binding sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Human bone morphogenetic protein 2 contains a heparin-binding site which modifies its biological activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

The prodomain of BMP-7 targets the BMP-7 complex to the extracellular matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Characterization and identification of the inhibitory domain of GDF-8 propeptide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Recombinant TGF-beta 1 is synthesized as a two-component latent complex that shares some structural features with the native platelet latent TGF-beta 1 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Induction of matrix metalloproteinases (MMP3, MMP12 and MMP13) expression in the microglia by amyloid-beta stimulation via the PI3K/Akt pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Matrix metalloproteinase-3: a novel signaling proteinase from apoptotic neuronal cells that activates microglia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Midbrain dopaminergic neurons are protected from radical induced damage by GDF-5 application. Short communication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Neuroprotective effects of delayed administration of growth/differentiation factor-5 in the partial lesion model of Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Growth/differentiation factor 5 and glial cell line-derived neurotrophic factor enhance survival and function of dopaminergic grafts in a rat model of Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

Neuroprotective effects of growth/differentiation factor 5 depend on the site of administration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

GDF5 is a second locus for multiple-synostosis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

The mutational spectrum of brachydactyly type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN012

21 January 2018

Identifiers

DOI

10.1093/HMG/DDN012

1 reference

25 December 2017

PubMed ID

18203755

1 reference

25 December 2017