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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. Ayturk UM, et al. Am J Hum Genet. 2016 Apr 7;98(4):789-95. doi: 10.1016/j.ajhg.2016.03.009. Am J Hum Genet. 2016. PMID: 27058448 Free PMC article.
We hypothesized that congenital hemangiomas arise due to somatic mutation and performed massively parallel mRNA sequencing on affected tissue from eight participants. ...When we screened additional archival formalin-fixed paraffin-embedded (FFPE) co …
We hypothesized that congenital hemangiomas arise due to somatic mutation and performed massively parallel mRNA …
The genetics of vascular birthmarks.
Mahajan P, Bergstrom KL, Phung TL, Metry DW. Mahajan P, et al. Clin Dermatol. 2022 Jul-Aug;40(4):313-321. doi: 10.1016/j.clindermatol.2022.02.006. Epub 2022 Feb 16. Clin Dermatol. 2022. PMID: 35181412 Review.
The PIK3/AKT/mTOR and RAS/MEK/ERK signaling pathways, which mediate cell growth and angiogenesis, are activated secondary to genetic variations in vascular malformations. Somatic variants in TEK (TIE2) and PIK3CA cause venous malformations. Variants in PIK3CA also c …
The PIK3/AKT/mTOR and RAS/MEK/ERK signaling pathways, which mediate cell growth and angiogenesis, are activated secondary to genetic …
Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.
Klebanov N, Lin WM, Artomov M, Shaughnessy M, Njauw CN, Bloom R, Eterovic AK, Chen K, Kim TB, Tsao SS, Tsao H. Klebanov N, et al. JAMA Dermatol. 2019 Feb 1;155(2):211-215. doi: 10.1001/jamadermatol.2018.4231. JAMA Dermatol. 2019. PMID: 30601876 Free PMC article.
MAIN OUTCOMES AND MEASURES: Identification of somatic mutations associated with cherry angiomas. RESULTS: In 10 cherry angioma tissue samples originating from 6 female and 4 male patients with a median (range) age of 54 (26-79) years, 5 samples (50%) revealed …
MAIN OUTCOMES AND MEASURES: Identification of somatic mutations associated with cherry angiomas. RESULTS: In 10 cherry …
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Ten Broek RW, Eijkelenboom A, van der Vleuten CJM, Kamping EJ, Kets M, Verhoeven BH, Grünberg K, Schultze Kool LJ, Tops BBJ, Ligtenberg MJL, Flucke U. Ten Broek RW, et al. Genes Chromosomes Cancer. 2019 Aug;58(8):541-550. doi: 10.1002/gcc.22739. Epub 2019 Feb 11. Genes Chromosomes Cancer. 2019. PMID: 30677207 Free PMC article.
Vascular malformations are part of overgrowth syndromes characterized by somatic mosaic mutations or rarely by germline mutations. Due to their similarities and diversity, clinicopathological classification can be challenging. ...PIK3CA (n=80), TEK (TIE2) (n= …
Vascular malformations are part of overgrowth syndromes characterized by somatic mosaic mutations or rarely by germline mut …