Modulation of the Mechanisms Driving Transthyretin Amyloidosis

Autor: Filipa Bezerra, Maria João Saraiva, Maria Rosário Almeida

Publikováno v: Frontiers in Molecular Neuroscience, Vol 13 (2020)

Transthyretin (TTR) amyloidoses are systemic diseases associated with TTR aggregation and extracellular deposition in tissues as amyloid. The most frequent and severe forms of the disease are hereditary and associated with amino acid substitutions in

Externí odkaz: https://doaj.org/article/c86294e45b484e09b06407a2ff885652

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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Autor: Lin, Y.C., Niceta, M., Muto, V., Vona, B., Pagnamenta, A.T., Maroofian, R., Beetz, C., Duyvenvoorde, H. van, Dentici, M.L., Lauffer, P., Vallian, S., Ciolfi, A., Pizzi, S., Bauer, P., Gruning, N.M., Bellacchio, E., Fattore, A. del, Petrini, S., Shaheen, R., Tiosano, D., Halloun, R., Pode-Shakked ben, Albayrak, H.M., Isik, E., Wit, J.M., Dittrich, M., Freire, B.L., Bertola, D.R., Jorge, A.A.L., Barel, O., Sabir, A.H., Tenaiji, A.M.J. al, Taji, S.M., Al-Sannaa, N., Al-Abdulwahed, H., Digilio, M.C., Irving, M., Anikster, Y., Bhavani, G.S.L., Girisha, K.M., Haaf, T., Taylor, J.C., Dallapiccola, B., Alkuraya, F.S., Yang, R.B., Tartaglia, M., Genomics England Res Consortium

Publikováno v: American Journal of Human Genetics, 108(1), 115-133. CELL PRESS
American journal of human genetics, 108(1), 115-133. Cell Press
Am J Hum Genet

Summary Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for a variety of growth factors. Here we report that bi-allelic inact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3485b0a21a8d7dc54b6eb09e83fac7aa
https://hdl.handle.net/1887/3195923

The Strategy of Treatment of Inflammatory Bowel Disease

Publikováno v: 東邦医学会雑誌. 65(1):9-13

最終講義
炎症性腸疾患治療においては当初,非特異的抗炎症治療薬剤サラゾピリン・ステロイド剤が導入され臨床的有効性から長くIBD治療の主体を担ってきた.その後IBD病態形成に免�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::6e4ba58cd4069115504197f051ab3229
https://mylibrary.toho-u.ac.jp/webopac/TD45053201