(Q34339756)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

main subject

ischiopatellar dysplasia

1 reference

inferred from title

arterial hypertension

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Arie P van Dijk

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Robert Hofstra

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

9

Lies H Hoefsloot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

2

Ernie M H F Bongers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Wilhelmina S Kerstjens-Frederikse

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Marcus T R Roofthooft

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Edward M Leter

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Anton Vonk-Noordegraaf

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Krista K Dijk-Bos

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Elke S Hoendermis

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Johan J P Gille

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Birgit Sikkema-Raddatz

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Rolf M F Berger

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

English

0 references

publication date

16 April 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

28 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

500-506

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

Activation of the canonical bone morphogenetic protein (BMP) pathway during lung morphogenesis and adult lung tissue repair

28 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Multiple roles and interactions of Tbx4 and Tbx5 in development of the respiratory system.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Clinical features of paediatric pulmonary hypertension: a registry study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Epigenetic mechanisms of pulmonary hypertension.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Pulmonary arterial hypertension: a comparison between children and adults

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

The BMP pathway acts to directly regulate Tbx20 in the developing heart.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Basic science of pulmonary arterial hypertension for clinicians: new concepts and experimental therapies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the In

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Updated clinical classification of pulmonary hypertension.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Clinical characterization of pediatric pulmonary hypertension: complex presentation and diagnosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

An essential interaction between T-box proteins and histone-modifying enzymes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Narrative review: the enigma of pulmonary arterial hypertension: new insights from genetic studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Sequence variation in the Tbx4 gene in marine mammals.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

T-box factors determine cardiac design.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

T-box transcription factors and their roles in regulatory hierarchies in the developing heart

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Human syndromes with congenital patellar anomalies and the underlying gene defects.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Mutations in the human TBX4 gene cause small patella syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Role of TBX1 in human del22q11.2 syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Radiation hybrid mapping and genomic organization of canine TBX2 and TBX4.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

T-box genes in human disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

T-box gene products are required for mesenchymal induction of epithelial branching in the embryonic mouse lung

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Fgf10 is essential for limb and lung formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3717587

Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension

6 July 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101152

Epigenetic attenuation of mitochondrial superoxide dismutase 2 in pulmonary arterial hypertension: a basis for excessive cell proliferation and a new therapeutic target.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101152

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101152

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101152

Pediatric pulmonary hypertension in the Netherlands: epidemiology and characterization during the period 1991 to 2005.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101152

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101152

Cautious epoprostenol therapy is a safe bridge to lung transplantation in pulmonary veno-occlusive disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101152

The evolution of paired appendages in vertebrates: T-box genes in the zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101152

Fin development in a cartilaginous fish and the origin of vertebrate limbs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101152

Tbx4-Fgf10 system controls lung bud formation during chicken embryonic development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101152

Primary pulmonary hypertension

21 January 2018

1 reference

12 December 2020

Primary pulmonary hypertension in children may have a different genetic background than in adults

1 reference

12 December 2020

Mutations in the TGF-beta type 1 receptor, ALK1, in combined primary pulmonary hypertension and hereditary haemorrhagic telangiectasia, implies pathway specificity

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension

1 reference

12 December 2020

10.1136/JMEDGENET-2012-101152

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

23592887

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23592887%20AND%20SRC:MED&resulttype=core&format=json