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TGF-β signalopathies as a paradigm for translational medicine.
Cannaerts E, van de Beek G, Verstraeten A, Van Laer L, Loeys B. Cannaerts E, et al. Eur J Med Genet. 2015 Dec;58(12):695-703. doi: 10.1016/j.ejmg.2015.10.010. Epub 2015 Oct 24. Eur J Med Genet. 2015. PMID: 26598797 Review.
Similarly, this pathway was demonstrated to be key in the pathogenesis of Loeys-Dietz and Shprintzen-Goldberg syndrome. The elucidation of the underlying pathogenic mechanisms has led to new treatment strategies, targeting the overactive TGF-beta pathway. ... …
Similarly, this pathway was demonstrated to be key in the pathogenesis of Loeys-Dietz and Shprintzen-Goldberg syndrome. …
Double-valve surgery in Shprintzen-Goldberg syndrome.
Elmistekawy E, Hudson CC, Williams A, Mesana T. Elmistekawy E, et al. Asian Cardiovasc Thorac Ann. 2014 Sep;22(7):842-5. doi: 10.1177/0218492313485070. Epub 2013 Oct 9. Asian Cardiovasc Thorac Ann. 2014. PMID: 24887819
We describe the challenging case of a 28-year-old Jehovah's Witness patient who presented with symptomatic mitral and tricuspid valve disease and Shprintzen-Goldberg syndrome. This is the first reported double-valve surgery in such a patient who, apart from c …
We describe the challenging case of a 28-year-old Jehovah's Witness patient who presented with symptomatic mitral and tricuspid valve diseas …
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
Verstraeten A, Alaerts M, Van Laer L, Loeys B. Verstraeten A, et al. Hum Mutat. 2016 Jun;37(6):524-31. doi: 10.1002/humu.22977. Epub 2016 Mar 14. Hum Mutat. 2016. PMID: 26919284 Review.
Marfan syndrome (MFS) is a rare, autosomal-dominant, multisystem disorder, presenting with skeletal, ocular, skin, and cardiovascular symptoms. Significant clinical overlap with other systemic connective tissue diseases, including Loeys-Dietz syndrome (LDS), Shprintzen …
Marfan syndrome (MFS) is a rare, autosomal-dominant, multisystem disorder, presenting with skeletal, ocular, skin, and cardiovascular sympto …
Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report.
O'Dougherty GR, Fulkerson DH, Kern M, Haldar K, Calhoun B. O'Dougherty GR, et al. Am J Case Rep. 2019 Aug 8;20:1159-1169. doi: 10.12659/AJCR.914924. Am J Case Rep. 2019. PMID: 31391415 Free PMC article.
BACKGROUND Shprintzen-Goldberg syndrome (SGS) is an extremely rare collagenopathy, most often caused by autosomal-dominant mutations in the SKI proto-oncogene, which is a component of the transforming growth factor beta (TGF-ss) signaling pathway. ...
BACKGROUND Shprintzen-Goldberg syndrome (SGS) is an extremely rare collagenopathy, most often caused by autosomal-domin …
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Arnaud P, Racine C, Hanna N, Thevenon J, Alessandri JL, Bonneau D, Clayton-Smith J, Coubes C, Delobel B, Dupuis-Girod S, Gouya L, Odent S, Carmignac V, Thauvin-Robinet C, Le Goff C, Jondeau G, Boileau C, Faivre L. Arnaud P, et al. Hum Genet. 2020 Apr;139(4):461-472. doi: 10.1007/s00439-019-02102-9. Epub 2020 Jan 24. Hum Genet. 2020. PMID: 31980905 Clinical Trial.
SKI pathogenic variations are associated with Shprintzen-Goldberg Syndrome (SGS), a rare systemic connective tissue disorder characterized by craniofacial, skeletal and cardiovascular features. So far, the clinical description, including intellectual d …
SKI pathogenic variations are associated with Shprintzen-Goldberg Syndrome (SGS), a rare systemic connective tissue dis …