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A novel substitution of proline (P32L) destabilises β2-microglobulin inducing hereditary systemic amyloidosis.
Prokaeva T, Joshi T, Klimtchuk ES, Gibson VM, Spencer B, Siddiqi O, Nedelkov D, Hu Y, Berk JL, Cuddy SAM, Dasari S, Chiu A, Choate LA, McPhail ED, Cui H, Chen H, Burks EJ, Sanchorawala V, Connors LH. Prokaeva T, et al. Among authors: connors lh. Amyloid. 2022 Dec;29(4):255-262. doi: 10.1080/13506129.2022.2072199. Epub 2022 May 14. Amyloid. 2022. PMID: 35575118
BACKGROUND: beta2-microglobulin amyloidosis was first described in the 1980s as a protein deposition disease associated with long-term haemodialysis. More recently, two inherited forms resulting from separate point mutations in the beta2-microglobulin gene have been identi …
BACKGROUND: beta2-microglobulin amyloidosis was first described in the 1980s as a protein deposition disease associated with long-term …
Marked progress in AL amyloidosis survival: a 40-year longitudinal natural history study.
Staron A, Zheng L, Doros G, Connors LH, Mendelson LM, Joshi T, Sanchorawala V. Staron A, et al. Among authors: connors lh. Blood Cancer J. 2021 Aug 4;11(8):139. doi: 10.1038/s41408-021-00529-w. Blood Cancer J. 2021. PMID: 34349108 Free PMC article. Clinical Trial.
AL amyloidosis-unrelated mortality increased across eras (from 3% to 16% of deaths) and with longer-term survival (29% of deaths occurring >10 years after diagnosis). ...
AL amyloidosis-unrelated mortality increased across eras (from 3% to 16% of deaths) and with longer-term survival (29% of deaths occu …
Stabilization of Cardiac Function With Diflunisal in Transthyretin (ATTR) Cardiac Amyloidosis.
Lohrmann G, Pipilas A, Mussinelli R, Gopal DM, Berk JL, Connors LH, Vellanki N, Hellawell J, Siddiqi OK, Fox J, Maurer MS, Ruberg FL. Lohrmann G, et al. Among authors: connors lh. J Card Fail. 2020 Sep;26(9):753-759. doi: 10.1016/j.cardfail.2019.11.024. Epub 2019 Dec 2. J Card Fail. 2020. PMID: 31805416 Free PMC article.
CONCLUSIONS: In ATTR-CM, diflunisal treatment resulted in measurable differences in some parameters of cardiac structure and function after only 1 year of administration. Further longer-term analysis is warranted....
CONCLUSIONS: In ATTR-CM, diflunisal treatment resulted in measurable differences in some parameters of cardiac structure and function after …
Soft tissue, joint, and bone manifestations of AL amyloidosis: clinical presentation, molecular features, and survival.
Prokaeva T, Spencer B, Kaut M, Ozonoff A, Doros G, Connors LH, Skinner M, Seldin DC. Prokaeva T, et al. Among authors: connors lh. Arthritis Rheum. 2007 Nov;56(11):3858-68. doi: 10.1002/art.22959. Arthritis Rheum. 2007. PMID: 17968927 Free article.
Recognition of the presenting symptoms is essential for accurate diagnosis and appropriate treatment, since the long-term outlook for untreated patients with dominant soft tissue and bone involvement is not better than that for patients with other dominant features of AL a …
Recognition of the presenting symptoms is essential for accurate diagnosis and appropriate treatment, since the long-term outlook for …