Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia (Q37223955)

19 August 2017

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia (English)

1 reference

heparan sulfate proteoglycans

19 August 2017

1 reference

15

Andrea Superti-Furga

0 references

Diana Ballhausen

Diana Ballhausen

14

0 references

John F. Bateman

John Bateman

3

0 references

Jacques S Beckmann

Jacques S Beckmann

12

0 references

Tiong Y Tan

Tiong Yang Tan

6

0 references

Sheila Unger

Sheila Unger

11

0 references

A. Micheil Innes

10

A Micheil Innes

1 reference

19 August 2017

16

Ravi Savarirayan

1 reference

19 August 2017

17

Luisa Bonafé

1 reference

19 August 2017

Ana Belinda Campos-Xavier

1

1 reference

19 August 2017

Danielle Martinet

2

1 reference

19 August 2017

Dan Belluoccio

4

1 reference

19 August 2017

Lynn Rowley

5

1 reference

19 August 2017

Alica Baxová

7

1 reference

19 August 2017

Karl-Henrik Gustavson

8

1 reference

19 August 2017

Zvi U Borochowitz

9

1 reference

19 August 2017

Lauréane Mittaz

13

1 reference

19 August 2017

language of work or name

English

0 references

publication date

28 May 2009

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

84

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19 August 2017

6

1 reference

19 August 2017

760-770

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Mechanisms for human genomic rearrangements

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Heparan sulphate proteoglycans fine-tune mammalian physiology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Recessive omodysplasia: five new cases and review of the literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

The contribution of in vivo manipulation of gene expression to the understanding of the function of glypicans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Heparan sulfate fine structure and specificity of proteoglycan functions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Glypicans: proteoglycans with a surprise

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Glypicans in growth control and cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Developmental roles of the glypicans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

GPC6, a novel member of the glypican gene family, encodes a product structurally related to GPC4 and is colocalized with GPC5 on human chromosome 13

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

The function of a Drosophila glypican does not depend entirely on heparan sulfate modification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Thyroid hormone regulates heparan sulfate proteoglycan expression in the growth plate

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

14 September 2017

Nosology of omodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Mammalian Notum induces the release of glypicans and other GPI-anchored proteins from the cell surface

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

On the role of glypicans in the process of morphogen gradient formation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Localisation of specific heparan sulfate proteoglycans during the proliferative phase of brain development

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

dally, a Drosophila member of the glypican family of integral membrane proteoglycans, affects cell cycle progression and morphogenesis via a Cyclin A-mediated process.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Anaesthesia in a child with autosomal recessive omodysplasia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Dally-like protein, a new Drosophila glypican with expression overlapping with wingless.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

Nonsense-mediated decay and the molecular pathogenesis of mutations inSALL1 andGLI3

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694977

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer

3 September 2018

1 reference

12 December 2020

ADAMTS-1-knockout mice do not exhibit abnormalities in aggrecan turnover in vitro or in vivo

1 reference

12 December 2020

Omodysplasia: the first reported Brazilian case

1 reference

12 December 2020

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

1 reference

12 December 2020

1 reference

12 December 2020

Parental consanguinity in two sibs with omodysplasia

1 reference

12 December 2020

Autosomal-recessive omodysplasia: Prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones

1 reference

12 December 2020

GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome

1 reference

12 December 2020

10.1016/J.AJHG.2009.05.002

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

19481194

1 reference