COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. (Q35012002)

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23 January 2020

title

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta (English)

1 reference

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high bone mass osteogenesis imperfecta

23 January 2020

main subject

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osteogenesis imperfecta

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author

Aileen M Barnes

2

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23 January 2020

Nadja Fratzl-Zelman

3

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23 January 2020

Sergey Leikin

15

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23 January 2020

Adele L. Boskey

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23 January 2020

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Klaus Klaushofer

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23 January 2020

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Paul Roschger

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23 January 2020

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Theresa E Hefferan

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23 January 2020

6

Elena Makareeva

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23 January 2020

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Andreas Kindmark

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23 January 2020

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Joan C Marini

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23 January 2020

4

Michael P Whyte

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23 January 2020

13

William H McAlister

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23 January 2020

14

Steven Mumm

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23 January 2020

author name string

Katarina Lindahl

1

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23 January 2020

Marina Brusel

7

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23 January 2020

Michael J Yaszemski

8

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23 January 2020

Carl-Johan Rubin

9

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23 January 2020

Efrat Kessler

16

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23 January 2020

Osten Ljunggren

18

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23 January 2020

publication date

7 April 2011

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23 January 2020

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23 January 2020

volume

32

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23 January 2020

issue

6

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23 January 2020

page(s)

598-609

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Bisphosphonate treatment modifies canine bone mineral and matrix properties and their heterogeneity.

23 January 2020

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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

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Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta

8 July 2018

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8 July 2018

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The bone morphogenetic protein 1/Tolloid-like metalloproteinases

8 July 2018

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8 July 2018

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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.

8 July 2018

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Microfibrillar structure of type I collagen in situ

8 July 2018

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Procollagen C proteinase enhancer 1 genes are important determinants of the mechanical properties and geometry of bone and the ultrastructure of connective tissues.

8 July 2018

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Substrate-specific modulation of a multisubstrate proteinase. C-terminal processing of fibrillar procollagens is the only BMP-1-dependent activity to be enhanced by PCPE-1.

8 July 2018

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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

8 July 2018

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Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

8 July 2018

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PCOLCE2 encodes a functional procollagen C-proteinase enhancer (PCPE2) that is a collagen-binding protein differing in distribution of expression and post-translational modification from the previously described PCPE1

8 July 2018

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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

8 July 2018

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8 July 2018

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The mineralization density of iliac crest bone from children with osteogenesis imperfecta

8 July 2018

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8 July 2018

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Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta

8 July 2018

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8 July 2018

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The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.

8 July 2018

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Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta.

21 January 2018

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Static and dynamic bone histomorphometry in children with osteogenesis imperfecta.

21 January 2018

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Constant mineralization density distribution in cancellous human bone

21 January 2018

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Partial purification and characterization of a procollagen C-proteinase from the culture medium of mouse fibroblasts

21 January 2018

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12 December 2020

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

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12 December 2020

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12 December 2020

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation

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12 December 2020

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

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12 December 2020

Partial purification of a procollagen C-proteinase. Inhibition by synthetic peptides and sequential cleavage of type I procollagen.

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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

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12 December 2020

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12 December 2020

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV

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

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12 December 2020

Identifiers

DOI

10.1002/HUMU.21475

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21344539%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

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23 January 2020

1 reference