Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV)-Reference-Cited by-同舟云学术

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Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV)

Published:2024-09 Issue:9 Volume:144 Page:2066-2077.e6
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

De Bortoli Martina^ORCID,Queisser Angela^ORCID,Pham Van Cuong^ORCID,Dompmartin Anne^ORCID,Helaers Raphaël^ORCID,Boutry Simon^ORCID,Claus Cathy^ORCID,De Roo An-Katrien^ORCID,Hammer Frank^ORCID,Brouillard Pascal^ORCID,Abdelilah-Seyfried Salim^ORCID,Boon Laurence M.^ORCID,Vikkula Miikka^ORCID

Funder

Horizon 2020 Marie Skłodowska-Curie Actions

Horizon Europe

Swiss National Science Foundation

FRS-FNRS

King Baudouin Foundation

Walloon Excellence in Lifesciences and Biotechnology

Publisher

Elsevier BV

Reference50 articles.

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2. Zebrafish: housing and husbandry recommendations;Aleström;Lab Anim,2020

3. Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy;Al-Olabi;J Clin Invest,2018

4. Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling;Amyere;Circulation,2017

5. Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos;Bell;Hum Mol Genet,2021

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