Detalhe da pesquisa
1.
Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease.
Proc Natl Acad Sci U S A
; 115(28): E6428-E6436, 2018 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29941560
2.
Oxidative Post-Translational Modifications of an Amyloidogenic Immunoglobulin Light Chain Protein.
Int J Mass Spectrom
; 416: 71-79, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358899
3.
Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt).
Hum Genet
; 134(1): 111-21, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25367359
4.
Abnormal global longitudinal strain and reduced serum inflammatory markers in cardiac AL amyloidosis patients without significant amyloid fibril deposition.
bioRxiv
; 2024 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558967
5.
Complete variable domain sequences of monoclonal antibody light chains identified from untargeted RNA sequencing data.
Front Immunol
; 14: 1167235, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37143670
6.
Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions.
Amyloid
; 30(4): 357-363, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37140928
7.
An additive destabilising effect of compound T60I and V122I substitutions in ATTRv amyloidosis.
Amyloid
; 30(2): 141-152, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36286264
8.
Immunoglobulin light chain, Blimp-1 and cytochrome P4501B1 peptides as potential vaccines for AL amyloidosis.
Immunol Cell Biol
; 90(5): 528-39, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21894172
9.
A novel substitution of proline (P32L) destabilises ß2-microglobulin inducing hereditary systemic amyloidosis.
Amyloid
; 29(4): 255-262, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575118
10.
Amyloidogenic and associated proteins in systemic amyloidosis proteome of adipose tissue.
Mol Cell Proteomics
; 7(8): 1570-83, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18474516
11.
Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis.
Am Heart J
; 158(4): 607-14, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19781421
12.
Mosaic Loss of the Y Chromosome Is Enriched in Patients With Wild-Type Transthyretin Cardiac Amyloidosis and Associated With Increased Mortality.
Circ Heart Fail
; : e011681, 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38853760
13.
Neurofilament light chain kinetics as a biomarker for polyneuropathy in V122I hereditary transthyretin amyloidosis.
Amyloid
; : 1-3, 2023 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38073425
14.
Use of Serum Transthyretin as a Prognostic Indicator and Predictor of Outcome in Cardiac Amyloid Disease Associated With Wild-Type Transthyretin.
Circ Heart Fail
; 11(2): e004000, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449366
15.
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
Amyloid
; 14(1): 65-71, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17453626
16.
In vitro co-expression of human amyloidogenic immunoglobulin light and heavy chain proteins: a relevant cell-based model of AL amyloidosis.
Amyloid
; 24(2): 115-122, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28632419
17.
Immunoglobulin heavy light chain test quantifies clonal disease in patients with AL amyloidosis and normal serum free light chain ratio.
Amyloid
; 23(4): 214-220, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27677679
18.
Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis.
Protein Sci
; 12(8): 1775-85, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12876326
19.
Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis.
Amyloid
; 9(2): 134-40, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12440486
20.
A new lysozyme tyr54asn mutation causing amyloidosis in a family of Swedish ancestry with gastrointestinal symptoms.
Amyloid
; 19(4): 182-5, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22978355