[PDF][PDF] Capillary malformations
AM Hammill, E Boscolo - Journal of Clinical Investigation, 2024 - Am Soc Clin Investig
Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular
anomaly that occurs in 0.1%–2% of newborns. Patients with a CM localized on the forehead …
anomaly that occurs in 0.1%–2% of newborns. Patients with a CM localized on the forehead …
Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels
Objective: Capillary malformation (CM) occurs sporadically and is associated with Sturge-
Weber syndrome. The somatic mosaic mutation in GNAQ (c. 548G> A, p. R183Q) is enriched …
Weber syndrome. The somatic mosaic mutation in GNAQ (c. 548G> A, p. R183Q) is enriched …
[HTML][HTML] A detailed multi-omics analysis of GNB2 gene in human cancers
L Zhang, AM Sahar, C Li, A Chaudhary… - Brazilian Journal of …, 2022 - SciELO Brasil
The Guanine-nucleotide binding protein 2 (GNB2) encodes for β2 subunit (Gβ2) of the G-
protein complex. Keeping in view the increased demand of reliable biomarkers in cancer …
protein complex. Keeping in view the increased demand of reliable biomarkers in cancer …
miR-142-3p improves paclitaxel sensitivity in resistant breast cancer by inhibiting autophagy through the GNB2-AKT-mTOR pathway
Y Shi, J Wang, S Tao, S Zhang, L Mao, X Shi, W Wang… - Cellular …, 2023 - Elsevier
Breast cancer has overtaken lung cancer as the most prevalent cancer worldwide. The
development of advanced drug resistance inhibits the efficacy of paclitaxel (PTX) as a first …
development of advanced drug resistance inhibits the efficacy of paclitaxel (PTX) as a first …
[HTML][HTML] GNAQ/GNA11 mosaicism causes aberrant calcium signaling susceptible to targeted therapeutics
D Zecchin, N Knöpfel, AK Gluck, M Stevenson… - Journal of Investigative …, 2024 - Elsevier
Mosaic variants in genes GNAQ or GNA11 lead to a spectrum of vascular and pigmentary
diseases including Sturge-Weber syndrome, in which progressive postnatal neurological …
diseases including Sturge-Weber syndrome, in which progressive postnatal neurological …
A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis
F Galeffi, DA Snellings, SE Wetzel-Strong, N Kastelic… - Angiogenesis, 2022 - Springer
Sturge-Weber syndrome (SWS) is a sporadic, congenital, neuro-cutaneous disorder
characterized by a mosaic, capillary malformation. SWS and non-syndromic capillary …
characterized by a mosaic, capillary malformation. SWS and non-syndromic capillary …
[HTML][HTML] Characterization of patient-Derived GNAQ mutated endothelial cells from capillary malformations
GB Langbroek, MLE Stor, V Janssen, A de Haan… - Journal of Investigative …, 2024 - Elsevier
Capillary malformations (CM)(port-wine stains) are congenital skin lesions that are
characterized by dilated capillaries and postcapillary venules. CMs are caused by altered …
characterized by dilated capillaries and postcapillary venules. CMs are caused by altered …
[HTML][HTML] Atlas of nervous system vascular malformations: a systematic review
C Castillo-Rangel, G Marin, KA Hernandez-Contreras… - Life, 2022 - mdpi.com
Vascular malformations are frequent in the head and neck region, affecting the nervous
system. The wide range of therapeutic approaches demand the correct anatomical …
system. The wide range of therapeutic approaches demand the correct anatomical …
[HTML][HTML] Antibody blockade of Jagged1 attenuates choroidal neovascularization
TT Gjølberg, JA Wik, H Johannessen, S Krüger… - Nature …, 2023 - nature.com
Antibody-based blocking of vascular endothelial growth factor (VEGF) reduces choroidal
neovascularization (CNV) and retinal edema, rescuing vision in patients with neovascular …
neovascularization (CNV) and retinal edema, rescuing vision in patients with neovascular …