Mutations in the human TBX4 gene cause small patella syndrome (Q24337778)

4 July 2017

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Mutations in the human TBX4 gene cause small patella syndrome (English)

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T-box transcription factor 4

4 July 2017

main subject

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skeletal system morphogenesis

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

ischiopatellar dysplasia

1 reference

Hans van Bokhoven

Hans

van Bokhoven

1 reference

20 October 2023

Lies H Hoefsloot

Lies H

Hoefsloot

1 reference

4 July 2017

Nine V A M Knoers

Nine V A M

Knoers

1 reference

4 July 2017

Helger G

Yntema

Helger G Yntema

1 reference

4 July 2017

Ben C J

Hamel

Ben C J Hamel

1 reference

4 July 2017

Ernie M H F

Bongers

Ernie M H F Bongers

1 reference

4 July 2017

Pascal H G Duijf

Pascal H G

Duijf

1 reference

4 July 2017

Sylvia E M van Beersum

Sylvia E M

van Beersum

1 reference

4 July 2017

Jeroen Schoots

Jeroen

Schoots

1 reference

4 July 2017

Albert Van Kampen

Albert

Van Kampen

1 reference

4 July 2017

Andreas Burckhardt

Andreas

Burckhardt

1 reference

4 July 2017

Frantisek Losan

Frantisek

Losan

1 reference

4 July 2017

language of work or name

English

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publication date

21 April 2004

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American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

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4 July 2017

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4 July 2017

page(s)

1239-1248

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The phenotype of survivors of campomelic dysplasia

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Virtual cloning and physical mapping of a human T-box gene, TBX4

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

A simple salting out procedure for extracting DNA from human nucleated cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

T-box genes in human disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

The T-box genes Tbx4 and Tbx5 regulate limb outgrowth and identity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Loss of Tbx4 blocks hindlimb development and affects vascularization and fusion of the allantois

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Tbx5 is essential for forelimb bud initiation following patterning of the limb field in the mouse embryo

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

A second independent pathway for development of mesencephalic dopaminergic neurons requires Lmx1b.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Involvement of T-box genes Tbx2-Tbx5 in vertebrate limb specification and development.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

30 May 2018

A new patella syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

The "small patella" syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Tbx Genes Specify Posterior Digit Identity through Shh and BMP Signaling.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Different regulation of T-box genes Tbx4 and Tbx5 during limb development and limb regeneration.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182087

Tbx5 and Tbx4 trigger limb initiation through activation of the Wnt/Fgf signaling cascade

29 November 2018

1 reference

12 December 2020

Familial absence of the patella

1 reference

12 December 2020

Ischiopatellar dysplasia (Scott and Taor's syndrome of the small patella)

1 reference

12 December 2020

[The coxopodopatellar syndrome]

1 reference

12 December 2020

[The small patella syndrome. A combination of knee and pelvic dysplasia]

1 reference

12 December 2020

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

1 reference

12 December 2020

Small patella syndrome

1 reference

12 December 2020

The use of position-specific rotamers in model building by homology

1 reference

12 December 2020

The 'small-patella' syndrome. Hereditary osteodysplasia of the knee, pelvis and foot

1 reference

12 December 2020

Comments on the ischio-pubic-patellar syndrome

1 reference

12 December 2020

Ischio-pubic-patellar hypoplasia: is it a new syndrome?

1 reference

12 December 2020

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia

1 reference

12 December 2020

Identifiers

DOI

10.1086/421331

1 reference

release_lopm25fn2fdwxcmsjaeyq6play

4 July 2017

Fatcat ID

0 references

PMC publication ID

1182087

1 reference

4 July 2017

1 reference