The revised Ghent nosology for the Marfan syndrome
A revised Ghent nosology is established, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features and may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis.
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
These data definitively implicate perturbation of TGFβ signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events.
Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome
Losartan, a drug already in clinical use for hypertension, merits investigation as a therapeutic strategy for patients with Marfan syndrome and has the potential to prevent the major life-threatening manifestation of this disorder.
Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise
- J. Mendell, N. Sharifi, J. Meyers, F. Martínez-Murillo, H. Dietz
- BiologyNature Genetics
- 26 September 2004
Novel results document that nonsense surveillance is a crucial post-transcriptional regulatory event that influences the expression of broad classes of physiologic transcripts, has been functionally incorporated into essential homeostatic mechanisms and suppresses expression of evolutionary remnants.
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Revised diagnostic criteria for the Marfan syndrome.
- A. De Paepe, R. Devereux, H. Dietz, R. Hennekam, R. Pyeritz
- MedicineAmerican journal of medical genetics
- 24 April 1996
More stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; and potential contribution of molecular analysis to the diagnosis of Marfan Syndrome are proposed.
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Fibrillin is implicate as the protein defective in patients with the Marfan syndrome and a de novo missense mutation in the fibrillin gene is described in two patients with sporadic disease.
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome.
It is shown that mice deficient in fibrillin-1 have marked dysregulation of transforming growth factor-beta (TGF-beta) activation and signaling, resulting in apoptosis in the developing lung, and that perturbation of this function can contribute to the pathogenesis of disease.
An mRNA Surveillance Mechanism That Eliminates Transcripts Lacking Termination Codons
- P. Frischmeyer, A. van Hoof, Kathryn A. O’Donnell, A. Guerrerio, R. Parker, H. Dietz
- 22 March 2002
Yeast data suggest that nonstop decay is initiated when the ribosome reaches the 3′ terminus of the message, and multiple physiologic sources of nonstop transcripts and conservation of their accelerated decay in mammalian cells are demonstrated.
Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states
It is shown that increased TGF-β activity leads to failed muscle regeneration in fibrillin-1–deficient mice and a similar therapeutic response in a dystrophin-deficient mouse model of Duchenne muscular dystrophy.