The pathogenesis of port wine stain and Sturge Weber syndrome: complex interactions between genetic alterations and aberrant MAPK and PI3K activation

V Nguyen, M Hochman, MC Mihm Jr… - International journal of …, 2019 - mdpi.com
Port wine stain (PWS) is a congenital vascular malformation involving human skin.
Approximately 15–20% of children a facial PWS involving the ophthalmic (V1) trigeminal …

Sturge–Weber syndrome

AM Comi - Handbook of clinical neurology, 2015 - Elsevier
Sturge–Weber syndrome is the third most common neurocutaneous disorder, after
neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20 000 live births …

[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 …

A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge–Weber syndrome

R Fjær, K Marciniak, O Sundnes… - Human molecular …, 2021 - academic.oup.com
Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular
malformations affecting skin, eyes and leptomeninges of the brain, which can lead to …

Capillary malformations (portwine stains) of the head and neck: natural history, investigations, laser, and surgical management

JW Lee, HY Chung - Otolaryngologic Clinics of North America, 2018 - oto.theclinics.com
Capillary malformations (CMs), also known as port-wine stains or nevus flammeus, are the
most common type of congenital vascular malformations. They are present at birth and …

A somatic missense mutation in GNAQ causes capillary malformation

C Bichsel, J Bischoff - Current opinion in hematology, 2019 - journals.lww.com
Several studies confirm the GNAQ R183Q mutation in 90% of nonsyndromic and Sturge–
Weber syndrome (SWS) capillary malformations. The mutation is enriched in endothelial …

Comparative effectiveness among available treatments in difficult-to-treat port-wine stains (PWS): a Network Meta-Analysis of observational evidence

S Jamjanya, V Vejjabhinanta… - Journal of …, 2023 - Taylor & Francis
Background Although pulsed dye laser (PDL) is the treatment of choice for port-wine stains
(PWS), clinical resistance to PDL has been observed in 20–30% of cases. Several …

[HTML][HTML] Identification of a mosaic activating mutation in GNA11 in atypical Sturge-Weber syndrome

J Thorpe, LP Frelin, M McCann, CA Pardo… - The Journal of …, 2021 - ncbi.nlm.nih.gov
Sturge-Weber syndrome (Online Mendelian Inheritance in Man# 185300) is a capillary
malformation condition (Bichsel and Bischoff, 2019, Comi, 2015). Affected regions include …

Clinical and molecular spectrum of sporadic vascular malformations: a single-center study

A Diociaiuti, R Rotunno, E Pisaneschi, C Cesario… - Biomedicines, 2022 - mdpi.com
Sporadic vascular malformations (VMs) are a large group of disorders of the blood and
lymphatic vessels caused by somatic mutations in several genes—mainly regulating the …

Polymorphisms and association of GRM1, GNAQ and HCRTR1 genes with seasonal reproduction and litter size in three sheep breeds

M Zhu, H Zhang, H Yang, Z Zhao… - … in Domestic Animals, 2022 - Wiley Online Library
Litter size is one of the important economic traits of livestock. Seasonal oestrus, ovulation
and lambing of sheep have severely restricted the development of sheep farming in …