(Q49160192)

English

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.

scientific article published on 21 May 2015

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scholarly article

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29 February 2020

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25656619%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

osteogenesis imperfecta

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based on heuristic

inferred from title

Fransiska Malfait

10

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29 February 2020

Ana Berta Sousa

4

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29 February 2020

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Delfien Syx

1

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29 February 2020

Brecht Guillemyn

2

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29 February 2020

Sofie Symoens

3

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29 February 2020

Ana Medeira

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29 February 2020

Margo Whiteford

6

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29 February 2020

Trinh Hermanns-Lê

7

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29 February 2020

Paul J Coucke

8

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29 February 2020

Anne De Paepe

9

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29 February 2020

publication date

21 May 2015

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29 February 2020

Journal of Bone and Mineral Research

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29 February 2020

30

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29 February 2020

8

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29 February 2020

1445-1456

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29 February 2020

Osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Use of Bmp1/Tll1 doubly homozygous null mice and proteomics to identify and validate in vivo substrates of bone morphogenetic protein 1/tolloid-like metalloproteinases

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Bone morphogenetic protein-1: the type I procollagen C-proteinase

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Metalloproteinases in Drosophila to humans that are central players in developmental processes.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Type V collagen: molecular structure and fibrillar organization of the chicken alpha 1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesis

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Cartilage contains mixed fibrils of collagen types II, IX, and XI.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Multiple bone morphogenetic protein 1-related mammalian metalloproteinases process pro-lysyl oxidase at the correct physiological site and control lysyl oxidase activation in mouse embryo fibroblast cultures

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Decorin is processed by three isoforms of bone morphogenetic protein-1 (BMP1)

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Bone morphogenetic protein-1 processes probiglycan

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Fiji: an open-source platform for biological-image analysis

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Decorin modulates collagen matrix assembly and mineralization

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Bone morphogenetic protein-1 (BMP-1). Identification of the minimal domain structure for procollagen C-proteinase activity

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Hyperosteoidosis and hypermineralization in the same bone: bone tissue analyses in a boy with a homozygous BMP1 mutation

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

The effect of carboxyl-terminal propeptide of type I collagen (c-propeptide) on collagen synthesis of preosteoblasts and osteoblasts

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Carboxyl-terminal propeptide of type I collagen (c-propeptide) modulates the action of TGF-beta on MC3T3-E1 osteoblastic cells

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Procollagen trafficking, processing and fibrillogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Identification of binding partners interacting with the α1-N-propeptide of type V collagen

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

BMP1 controls TGFbeta1 activation via cleavage of latent TGFbeta-binding protein

1 reference

https://api.crossref.org/works/10.1002%2FJBMR.2473

21 January 2018

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