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Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases - Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma.
Fujiwara T, Takeda N, Ishii S, Morita H, Komuro I. Fujiwara T, et al. Circ Rep. 2019 Nov 2;1(11):487-492. doi: 10.1253/circrep.CR-19-0098. Circ Rep. 2019. PMID: 33693090 Free PMC article. Review.
Transforming growth factor-beta (TGF-beta) type I receptor-encoding TGFBR1 is such a gene, causing Loeys-Dietz syndrome (LDS) closely related to MFS, and also multiple self-healing squamous epithelioma (MSSE) without clinical overlap. ...
Transforming growth factor-beta (TGF-beta) type I receptor-encoding TGFBR1 is such a gene, causing Loeys-Dietz syndrome (LDS) closely relate …
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.
Sirisomboonwong KE, Martindale J, Keefe M, Goudie D, Poke G. Sirisomboonwong KE, et al. Am J Med Genet A. 2018 Dec;176(12):2892-2895. doi: 10.1002/ajmg.a.40652. Epub 2018 Dec 4. Am J Med Genet A. 2018. PMID: 30513140
Multiple self-healing squamous epithelioma (MSSE, Ferguson-Smith disease) and Loeys-Dietz syndrome (LDS) are allelic conditions associated with pathogenic variants in the transforming growth factor beta receptor 1 gene (TGFBR1). ...
Multiple self-healing squamous epithelioma (MSSE, Ferguson-Smith disease) and Loeys-Dietz syndrome (LDS) …
Keratoacanthoma (KA): An update and review.
Kwiek B, Schwartz RA. Kwiek B, et al. J Am Acad Dermatol. 2016 Jun;74(6):1220-33. doi: 10.1016/j.jaad.2015.11.033. Epub 2016 Feb 4. J Am Acad Dermatol. 2016. PMID: 26853179 Review.
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma.
Fujiwara T, Takeda N, Hara H, Morita H, Kishihara J, Inuzuka R, Yagi H, Maemura S, Toko H, Harada M, Ikeda Y, Kumagai H, Nomura S, Takimoto E, Akazawa H, Ako J, Komuro I. Fujiwara T, et al. Eur J Hum Genet. 2018 Aug;26(8):1151-1158. doi: 10.1038/s41431-018-0127-1. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706644 Free PMC article.
Variants in TGFBR1 have been reported to induce two completely distinct diseases, namely Loeys-Dietz syndrome (LDS) and multiple self-healing squamous epithelioma (MSSE). However, detailed mechanisms underlying this effect remain unknown. ...
Variants in TGFBR1 have been reported to induce two completely distinct diseases, namely Loeys-Dietz syndrome (LDS) and multiple s …