(Q36439351)

14 August 2017

Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome (English)

1 reference

14 August 2017

1 reference

Brad R Evans

1

1 reference

14 August 2017

Rebecca A Mosig

2

1 reference

14 August 2017

Mollie Lobl

3

1 reference

14 August 2017

Chiara R Martignetti

4

1 reference

14 August 2017

Catalina Camacho

5

1 reference

14 August 2017

Valerie Grum-Tokars

6

1 reference

14 August 2017

Marc J Glucksman

7

1 reference

14 August 2017

John A Martignetti

8

1 reference

14 August 2017

language of work or name

English

0 references

publication date

23 August 2012

1 reference

American Journal of Human Genetics

14 August 2017

1 reference

14 August 2017

91

1 reference

14 August 2017

3

1 reference

14 August 2017

572-576

1 reference

SignalP 4.0: discriminating signal peptides from transmembrane regions

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512002

Recognition of a signal peptide by the signal recognition particle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512002

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512002

Impaired endochondral ossification and angiogenesis in mice deficient in membrane-type matrix metalloproteinase I

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512002

A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512002

Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512002

Unaltered secretion of beta-amyloid precursor protein in gelatinase A (matrix metalloproteinase 2)-deficient mice.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512002

Don't mess with the matrix

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22922033

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MT1-MMP-deficient mice develop dwarfism, osteopenia, arthritis, and connective tissue disease due to inadequate collagen turnover

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22922033

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Biological implications of SNPs in signal peptide domains of human proteins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22922033

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.07.022

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

22922033

1 reference