The ADAMTS(L) family and human genetic disorders (Q28246781)

Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated gene

Europe PubMed Central

title

The ADAMTS(L) family and human genetic disorders (English)

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author

Valérie Cormier-Daire

series ordinal

2

object named as

Valérie Cormier-Daire

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Carine Le Goff

object named as

Carine Le Goff

series ordinal

1

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language of work or name

English

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publication date

15 October 2011

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published in

Human Molecular Genetics

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volume

20

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issue

R2

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page(s)

R163-7

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

ADAMTS5 is the major aggrecanase in mouse cartilage in vivo and in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Analysis of aggrecan in human knee cartilage and synovial fluid indicates that aggrecanase (ADAMTS) activity is responsible for the catabolic turnover and loss of whole aggrecan whereas other protease activity is required for C-terminal processing i

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Immunohistochemistry of vascular lesion in thrombotic thrombocytopenic purpura, with special reference to factor VIII related antigen

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

von Willebrand factor and von Willebrand factor-cleaving metalloprotease activity in Escherichia coli O157:H7-associated hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

A novel mutation of the fibrillin gene causing ectopia lentis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR361

21 January 2018

Identifiers

DOI

10.1093/HMG/DDR361

1 reference

Consolidated OpenCitations Corpus – April 2017

4284416

4284416

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference