157 related articles for article (PubMed ID: 36440997)
1. Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.
Davies OMT; Ng AT; Tran J; Blumenthal S; Arkin LM; Nopper AJ; Cottrell CE; Garzon M; Siegel DH; Frieden IJ; Drolet BA
Pediatr Dermatol; 2022 Nov; 39(6):914-919. PubMed ID: 36440997
[TBL] [Abstract][Full Text] [Related]
2. Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Thomas AC; Zeng Z; Rivière JB; O'Shaughnessy R; Al-Olabi L; St-Onge J; Atherton DJ; Aubert H; Bagazgoitia L; Barbarot S; Bourrat E; Chiaverini C; Chong WK; Duffourd Y; Glover M; Groesser L; Hadj-Rabia S; Hamm H; Happle R; Mushtaq I; Lacour JP; Waelchli R; Wobser M; Vabres P; Patton EE; Kinsler VA
J Invest Dermatol; 2016 Apr; 136(4):770-778. PubMed ID: 26778290
[TBL] [Abstract][Full Text] [Related]
3. Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.
Langbroek GB; Stor MLE; Janssen V; de Haan A; Horbach SER; Graupera M; van Noesel CJM; van der Horst CMAM; Wolkerstorfer A; Huveneers S
J Invest Dermatol; 2024 Jun; 144(6):1378-1388.e1. PubMed ID: 38013159
[TBL] [Abstract][Full Text] [Related]
4. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.
Couto JA; Ayturk UM; Konczyk DJ; Goss JA; Huang AY; Hann S; Reeve JL; Liang MG; Bischoff J; Warman ML; Greene AK
Angiogenesis; 2017 Aug; 20(3):303-306. PubMed ID: 28120216
[TBL] [Abstract][Full Text] [Related]
5. A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.
Galeffi F; Snellings DA; Wetzel-Strong SE; Kastelic N; Bullock J; Gallione CJ; North PE; Marchuk DA
Angiogenesis; 2022 Nov; 25(4):493-502. PubMed ID: 35635655
[TBL] [Abstract][Full Text] [Related]
6. Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma.
Bichsel CA; Goss J; Alomari M; Alexandrescu S; Robb R; Smith LE; Hochman M; Greene AK; Bischoff J
JAMA Ophthalmol; 2019 Jan; 137(1):91-95. PubMed ID: 30422215
[TBL] [Abstract][Full Text] [Related]
7. Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Kumar A; Zastrow DB; Kravets EJ; Beleford D; Ruzhnikov MRZ; Grove ME; Dries AM; Kohler JN; Waggott DM; Yang Y; Huang Y; ; Mackenzie KM; Eng CM; Fisher PG; Ashley EA; Teng JM; Stevenson DA; Shieh JT; Wheeler MT; Bernstein JA
Am J Med Genet A; 2019 Jun; 179(6):966-977. PubMed ID: 30920161
[TBL] [Abstract][Full Text] [Related]
8. Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome.
Yeom S; Cohen B; Weiss CR; Montano C; Wohler E; Sobreira N; Hammill AM; Comi A
Am J Med Genet A; 2023 Apr; 191(4):983-994. PubMed ID: 36710374
[TBL] [Abstract][Full Text] [Related]
9. Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome.
Huang L; Couto JA; Pinto A; Alexandrescu S; Madsen JR; Greene AK; Sahin M; Bischoff J
Pediatr Neurol; 2017 Feb; 67():59-63. PubMed ID: 27919468
[TBL] [Abstract][Full Text] [Related]
10. The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.
Nakashima M; Miyajima M; Sugano H; Iimura Y; Kato M; Tsurusaki Y; Miyake N; Saitsu H; Arai H; Matsumoto N
J Hum Genet; 2014 Dec; 59(12):691-3. PubMed ID: 25374402
[TBL] [Abstract][Full Text] [Related]
11. GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features.
Dompmartin A; van der Vleuten CJM; Dekeuleneer V; Duprez T; Revencu N; Désir J; Te Loo DMWM; Flucke U; Eijkelenboom A; Schultze Kool L; Vikkula M; Boon L
Eur J Neurol; 2022 Oct; 29(10):3061-3070. PubMed ID: 35715928
[TBL] [Abstract][Full Text] [Related]
12. GNAQ and GNA11 mutations occur in 9.5% of mucosal melanoma and are associated with poor prognosis.
Sheng X; Kong Y; Li Y; Zhang Q; Si L; Cui C; Chi Z; Tang B; Mao L; Lian B; Wang X; Yan X; Li S; Dai J; Guo J
Eur J Cancer; 2016 Sep; 65():156-63. PubMed ID: 27498141
[TBL] [Abstract][Full Text] [Related]
13. GNAQ R183Q somatic mutation contributes to aberrant arteriovenous specification in Sturge-Weber syndrome through Notch signaling.
Huang L; Sun H; Liu Y; Xu L; Hu M; Yang Y; Wang N; Wu Y; Guo W
FASEB J; 2023 Sep; 37(9):e23148. PubMed ID: 37606556
[TBL] [Abstract][Full Text] [Related]
14. Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome.
Wu Y; Peng C; Huang L; Xu L; Ding X; Liu Y; Zeng C; Sun H; Guo W
Br J Ophthalmol; 2022 Jul; 106(7):1006-1011. PubMed ID: 33707187
[TBL] [Abstract][Full Text] [Related]
15. Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome.
Martins L; Giovani PA; Rebouças PD; Brasil DM; Haiter Neto F; Coletta RD; Machado RA; Puppin-Rontani RM; Nociti FH; Kantovitz KR
J Mol Graph Model; 2017 Sep; 76():429-440. PubMed ID: 28779688
[TBL] [Abstract][Full Text] [Related]
16. GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma.
Liau JY; Tsai JH; Lan J; Chen CC; Wang YH; Lee JC; Huang HY
Virchows Arch; 2020 Mar; 476(3):475-481. PubMed ID: 31707589
[TBL] [Abstract][Full Text] [Related]
17. GNAQ and GNA11 mutant nonuveal melanoma: a subtype distinct from both cutaneous and uveal melanoma.
Livingstone E; Zaremba A; Horn S; Ugurel S; Casalini B; Schlaak M; Hassel JC; Herbst R; Utikal JS; Weide B; Gutzmer R; Meier F; Koelsche C; Hadaschik E; Sucker A; Reis H; Merkelbach-Bruse S; Siewert M; Sahm F; von Deimling A; Cosgarea I; Zimmer L; Schadendorf D; Schilling B; Griewank KG
Br J Dermatol; 2020 Nov; 183(5):928-939. PubMed ID: 32064597
[TBL] [Abstract][Full Text] [Related]
18. MRC1 and LYVE1 expressing macrophages in vascular beds of GNAQ p.R183Q driven capillary malformations in Sturge Weber syndrome.
Nasim S; Bichsel C; Dayneka S; Mannix R; Holm A; Vivero M; Alexandrescu S; Pinto A; Greene AK; Ingber DE; Bischoff J
Acta Neuropathol Commun; 2024 Mar; 12(1):47. PubMed ID: 38532508
[TBL] [Abstract][Full Text] [Related]
19. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.
Ayturk UM; Couto JA; Hann S; Mulliken JB; Williams KL; Huang AY; Fishman SJ; Boyd TK; Kozakewich HP; Bischoff J; Greene AK; Warman ML
Am J Hum Genet; 2016 Apr; 98(4):789-95. PubMed ID: 27058448
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation.
Lee KT; Park JE; Eom Y; Lim HS; Ki CS; Lim SY
Head Neck; 2019 Dec; 41(12):4143-4150. PubMed ID: 31532024
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
