(Q52137443)

22 April 2018

title

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

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22 April 2018

main subject

dyssegmental dysplasia

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Arikawa-Hirasawa E

1

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22 April 2018

Wilcox WR

2

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22 April 2018

Le AH

3

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22 April 2018

Silverman N

4

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22 April 2018

Govindraj P

5

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22 April 2018

Hassell JR

6

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22 April 2018

Yamada Y

7

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22 April 2018

language of work or name

English

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publication date

1 April 2001

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22 April 2018

published in

Nature Genetics

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22 April 2018

volume

27

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22 April 2018

issue

4

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22 April 2018

page(s)

431-434

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22 April 2018

Perlecan, basal lamina proteoglycan, promotes basic fibroblast growth factor-receptor binding, mitogenesis, and angiogenesis

cites work

1 reference

7 January 2021

The biology of perlecan: the multifaceted heparan sulphate proteoglycan of basement membranes and pericellular matrices

1 reference

7 January 2021

Specificities of heparan sulphate proteoglycans in developmental processes

1 reference

7 January 2021

Perlecan is essential for cartilage and cephalic development

1 reference

7 January 2021

Perlecan maintains the integrity of cartilage and some basement membranes

1 reference

7 January 2021

Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity

1 reference

7 January 2021

Coronal and sagittal clefts in skeletal dysplasias.

1 reference

7 January 2021

Heparan sulfate proteoglycan of human colon: partial molecular cloning, cellular expression, and mapping of the gene (HSPG2) to the short arm of human chromosome 1.

1 reference

7 January 2021

Cloning of human heparan sulfate proteoglycan core protein, assignment of the gene (HSPG2) to 1p36.1→p35 and identification of a BamHI restriction fragment length polymorphism

1 reference

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

7 January 2021

Structural characterization of the complete human perlecan gene and its promoter

1 reference

7 January 2021

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

7 January 2021

Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome

1 reference

7 January 2021

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

1 reference

7 January 2021

Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture

1 reference

7 January 2021

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

1 reference

7 January 2021

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

1 reference

7 January 2021

A member of a family of sulfate-activating enzymes causes murine brachymorphism

1 reference

7 January 2021

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

1 reference

7 January 2021

Developmental changes in heparan sulfate expression: in situ detection with mAbs

1 reference

7 January 2021

Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies

1 reference

7 January 2021

Widespread expression of perlecan proteoglycan in basement membranes and extracellular matrices of human tissues as detected by a novel monoclonal antibody against domain III and by in situ hybridization

1 reference

7 January 2021

Identifiers

DOI

10.1038/86941

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22 April 2018

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22 April 2018