(Q24298562)

English

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

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scholarly article

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Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome (English)

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SH3 and PX domains 2B

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GOA release 2020-03-11

bone development

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GOA release 2020-03-11

SH3 and PX domains 2B

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GOA release 2020-03-11

Hans van Bokhoven

22

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19

object named as

Raoul Hennekam

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Robert N Weinreb

8

object named as

Robert Weinreb

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object named as

Zafar Iqbal

1

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Joris A Veltman

object named as

Joris A Veltman

15

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20

object named as

Ben Hamel

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Arjan P M de Brouwer

3

object named as

Arjan de Brouwer

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author name string

Pilar Cejudo-Martin

2

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Bert van der Zwaag

4

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Pilar Ruiz-Lozano

5

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M Cecilia Scimia

6

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James D Lindsey

7

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Beate Albrecht

9

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Andre Megarbane

10

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Yasemin Alanay

11

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Ziva Ben-Neriah

12

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Mariangela Amenduni

13

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Rosangela Artuso

14

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Ellen van Beusekom

16

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Astrid Oudakker

17

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José Luis Millán

18

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Sara A Courtneidge

21

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language of work or name

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publication date

12 February 2010

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American Journal of Human Genetics

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86

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254-61

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2

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The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

19 March 2017

The mouse anterior chamber angle and trabecular meshwork develop without cell death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

19 March 2017

The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

19 March 2017

Assembly and biological role of podosomes and invadopodia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

19 March 2017

Phoxy lipids: revealing PX domains as phosphoinositide binding modules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

19 March 2017

Mouse heart valve structure and function: echocardiographic and morphometric analyses from the fetus through the aged adult.

1 reference

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27 September 2017

Adhesions that mediate invasion.

1 reference

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27 September 2017

Calpain is required for normal osteoclast function and is down-regulated by calcitonin

1 reference

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A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

27 September 2017

The adaptor protein Tks5/Fish is required for podosome formation and function, and for the protease-driven invasion of cancer cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

27 September 2017

Angle closure: classification, concepts, and the role of ultrasound biomicroscopy in diagnosis and treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

27 September 2017

Experimental Mouse Ocular Hypertension: Establishment of the Model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

27 September 2017

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

27 September 2017

Serpentine fibula syndrome: expansion of the phenotype with three affected siblings.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

27 September 2017

Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

27 September 2017

Melnick-Needles syndrome: indication for an autosomal recessive form

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

27 September 2017

Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

27 September 2017

Further delineation of Frank-ter Haar syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

29 November 2018

Identification of the mouse uveoscleral outflow pathway using fluorescent dextran

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

29 November 2018

Reduction of intraocular pressure in mouse eyes treated with latanoprost

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

29 November 2018

Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

29 November 2018

Transthoracic echocardiography in models of cardiac disease in the mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820172

29 November 2018

Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137777

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frank-ter Haar syndrome with unusual clinical features

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137777

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Invadosomes at a glance

1 reference

https://pubmed.ncbi.nlm.nih.gov/20137777

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.01.009

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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