(Q57639997)

Francisco Javier Carod-Artal

5

object named as

Haluk Topaloglu

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6

object named as

Francisco Javier Carod-Artal

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author name string

Morgane Stum

1

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Claire-Sophie Davoine

2

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Savine Vicart

3

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Léna Guillot-Noël

4

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Hülya Kayserili

7

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Fayçal Hentati

8

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Jon Andoni Urtizberea

10

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EL-Hadi Hammouda

11

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Phuc Canh Quan

12

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Bertrand Fontaine

13

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Sophie Nicole

Perlecan is essential for cartilage and cephalic development

14

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publication date

November 2006

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published in

Human Mutation

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volume

27

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issue

11

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page(s)

1082-1091

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

The C-terminal domain V of perlecan promotes beta1 integrin-mediated cell adhesion, binds heparin, nidogen and fibulin-2 and can be modified by glycosaminoglycans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Structural characterization of the complete human perlecan gene and its promoter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Structural characterization of recombinant domain II of the basement membrane proteoglycan perlecan.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Characterization of recombinant perlecan domain I and its substitution by glycosaminoglycans and oligosaccharides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Perlecan maintains the integrity of cartilage and some basement membranes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Identification of sites in domain I of perlecan that regulate heparan sulfate synthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Nonsense-mediated decay approaches the clinic

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Recombinant domain IV of perlecan binds to nidogens, laminin-nidogen complex, fibronectin, fibulin-2 and heparin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Mapping of binding sites for nidogens, fibulin-2, fibronectin and heparin to different IG modules of perlecan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Extracellular matrices of the avian ovarian follicle. Molecular characterization of chicken perlecan.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Matrix proteoglycans: from molecular design to cellular function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Basement membrane proteoglycans: from cellar to ceiling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Human basement membrane heparan sulfate proteoglycan core protein: a 467-kD protein containing multiple domains resembling elements of the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Structural and cell-adhesive properties of three recombinant fragments derived from perlecan domain III.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Modification in the expression and localization of contractile and cytoskeletal proteins in Schwartz-Jampel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Microfibrils at basement membrane zones interact with perlecan via fibrillin-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Improvement of myotonia with carbamazepine in three cases with the Schwartz-Jampel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021

Role of quality control pathways in human diseases involving protein misfolding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20388

7 January 2021