Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study

Autor: Eeva-Kaisa Schmidt, Tuuli Mustonen, Sari Kiuru-Enari, Tero T. Kivelä, Sari Atula

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)

Abstract Background Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The

Externí odkaz: https://doaj.org/article/1ec4b274c5604c4e8dc6475a521e6a85

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Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel

Autor: Maja, Potrč, Marija, Volk, Matteo, de Rosa, Jože, Pižem, Nataša, Teran, Helena, Jaklič, Aleš, Maver, Brigita, Drnovšek-Olup, Michela, Bollati, Katarina, Vogelnik, Alojzija, Hočevar, Ana, Gornik, Vladimir, Pfeifer, Borut, Peterlin, Marko, Hawlina, Ana, Fakin

Publikováno v: International Journal of Molecular Sciences

Simple Summary Gelsolin amyloidosis is a rare autosomal dominant genetic disease, which typically affects the cornea, skin and sometimes other organ systems and is caused by mutations in a gene coding for gelsolin protein (GSN). We describe a novel m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fb428a044bff32f083ec8072769d477e
https://pubmed.ncbi.nlm.nih.gov/33499149

Meretoja Syndrome: General Considerations and Contributions of Plastic Surgery in Surgical Treatment

Autor: Rolf Gemperli, Henri Friedhofer, Bruno Ferreira Luitgards, Aneta Hionia Vassiliadis, Marcela Benetti Scarpa

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ad8970e30ac79f2db0ea92bed749aa
https://doi.org/10.1093/asj/sjx172

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys

Autor: Jože Pižem, Natasa Teran, Ana Fakin, Matteo de Rosa, Marko Hawlina, Michela Bollati, Ana Gornik, Helena Jaklič, Borut Peterlin, Maja Potrč, Marija Volk, Brigita Drnovsek-Olup, Alojzija Hočevar, Vladimir Pfeifer, Katarina Vogelnik, Aleš Maver

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 3
International Journal of Molecular Sciences, Vol 22, Iss 1084, p 1084 (2021)
International journal of molecular sciences
22 (2021): 1–15. doi:10.3390/ijms22031084
info:cnr-pdr/source/autori:Potrc M.; Volk M.; de Rosa M.; Pizem J.; Teran N.; Jaklic H.; Maver A.; Drnovsek-Olup B.; Bollati M.; Vogelnik K.; Hocevar A.; Gornik A.; Pfeifer V.; Peterlin B.; Hawlina M.; Fakin A./titolo:Clinical and histopathological features of gelsolin amyloidosis associated with a novel gsn variant p.Glu580lys/doi:10.3390%2Fijms22031084/rivista:International journal of molecular sciences (Print)/anno:2021/pagina_da:1/pagina_a:15/intervallo_pagine:1–15/volume:22
International journal of molecular sciences, vol. 22, no. 3, 1084, 2021.

Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20bf0c7e808fee9bc7bb3f03502cbd97
https://doi.org/10.3390/ijms22031084