(Q28270654)

9

0 references

Antonella Mendola

3

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Jaakko Kangas

Jaakko Kangas

2

0 references

Lauri Eklund

7

Lauri Eklund

0 references

Nisha Limaye

1

Nisha Limaye

0 references

Laurence M Boon

8

Laurence M Boon

0 references

Catherine Godfraind

4

Catherine Godfraind

0 references

author name string

Matthieu J Schlögel

5

0 references

Raphael Helaers

American Journal of Human Genetics

6

0 references

language of work or name

English

0 references

publication date

3 December 2015

0 references

published in

0 references

volume

97

0 references

issue

6

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page(s)

914-21

0 references

cites work

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Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

20 March 2017

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Discovery of NVP-BYL719 a potent and selective phosphatidylinositol-3 kinase alpha inhibitor selected for clinical evaluation

20 March 2017

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

20 March 2017

1 reference

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Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

20 March 2017

1 reference

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Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

20 March 2017

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Oncogenic mutations of PIK3CA in human cancers

20 March 2017

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High frequency of mutations of the PIK3CA gene in human cancers

20 March 2017

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Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

20 March 2017

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Common and specific effects of TIE2 mutations causing venous malformations

20 March 2017

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PI3K in cancer: divergent roles of isoforms, modes of activation and therapeutic targeting

29 September 2017

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AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation.

29 September 2017

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Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations

29 September 2017

1 reference

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Activation of diverse signalling pathways by oncogenic PIK3CA mutations

29 September 2017

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PIK3CA activating mutations in facial infiltrating lipomatosis

29 September 2017

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Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

29 September 2017

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Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.

29 September 2017

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Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

29 September 2017

1 reference

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

29 September 2017

1 reference

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Venous malformation: update on aetiopathogenesis, diagnosis and management

29 September 2017

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Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

29 September 2017

1 reference

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Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

29 September 2017

1 reference

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Retrovirus-mediated gene transfer and expression cloning: powerful tools in functional genomics

29 September 2017

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A stable human-derived packaging cell line for production of high titer retrovirus/vesicular stomatitis virus G pseudotypes

29 September 2017

1 reference

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Elevated D-dimer level in the differential diagnosis of venous malformations

29 September 2017

1 reference

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Association of localized intravascular coagulopathy with venous malformations

2 June 2018

1 reference

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Angiogenesis selectively requires the p110alpha isoform of PI3K to control endothelial cell migration.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678782

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

2 June 2018

1 reference