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Familial pseudoxanthoma elasticum with nephrocalcinosis: a case report
Lacerda, P.; Beirão, I.; Pestana, P.; Beirão, J.M.; Freitas, C.; Rocha, M.J.; Cabrita, A.; Costa, P.P.Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by progressive calcification and fragmentation of elastic fibres. PXE commonly involves the reticular dermis, the Bruch membrane of the eye, and blood vessels. PXE is caused by mutations in the ABCC6 gene. More than 300 pathogenic ABCC6 mutations are known. Two of these mutations are common: p.R1141X in exon 24, with a preva...
TTRV30M oligomeric aggregates inhibit proliferation of renal progenitor cells b...
Moreira, L.; Ballerini, L.; Peired, A.; Sagrinati, C.; Parente, E.; Angelotti, M.L.; Ronconi, E.; Lazzeri, E.; Mazzinghi, B.; Lacerda, P.; Beirão, I.Publicado em: The Proceedings of the XIIIth International Symposium on Amyloidosis, May 6-10, 2012, Groningen, The Netherlands ; In Familial Amyloidotic Polyneuropathy, the amyloid deposition of mutant transthyretin TTR V30M can lead to renal complications. An unexplored mechanism is the toxicity of oligomeric TTR aggregates. A subset of renal progenitor cells (RPC) in the adult human kidney can induce regener...
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