Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases ― Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma ―
Author:
Affiliation:
1. Department of Cardiovascular Medicine, The University of Tokyo Hospital
2. Department of Therapeutic Strategy for Heart Failure, Graduate School of Medicine, The University of Tokyo
Publisher
Japanese Circulation Society
Subject
Marketing,Organizational Behavior and Human Resource Management,Strategy and Management,Drug Discovery,Pharmaceutical Science,Pharmacology
Link
https://www.jstage.jst.go.jp/article/circrep/1/11/1_CR-19-0098/_pdf
Reference25 articles.
1. 1. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37: 275–281.
2. 2. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006; 355: 788–798.
3. 3. MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, et al. Loeys-Dietz syndrome: A primer for diagnosis and management. Genet Med 2014; 16: 576–587.
4. 4. Meester JAN, Verstraeten A, Schepers D, Alaerts M, Van Laer L, Loeys BL. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg 2017; 6: 582–594.
5. 5. Takeda N, Komuro I. Genetic basis of hereditary thoracic aortic aneurysms and dissections. J Cardiol 2019; 74: 136–143.
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2. Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome;European Journal of Human Genetics;2023-01-04
3. Association of TGF-β Canonical Signaling-Related Core Genes With Aortic Aneurysms and Aortic Dissections;Frontiers in Pharmacology;2022-04-20
4. Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes;American Journal of Medical Genetics Part A;2021-08-06
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