Results 161 to 170 of about 159,323 (346)
The FEBS Journal, EarlyView.Investigated mutations in transthyretin (TTR) disrupt the F87‐centered hydrophobic core that stabilizes its tetrameric structure. The mild I107V mutation weakens inter‐chain packing, while H88R fully abolishes tetramer formation, yielding a monomeric, aggregation‐prone form. Structural, biophysical, and computational analyses reveal that both mutations
István L. Bódy +7 more
wiley +1 more source
(3) Familial Primary Amyloidosis with Nervous System Involvement among the Japanese
, 1973 Shukuro Araki
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Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community
Haemophilia, EarlyView.ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein +6 more
wiley +1 more source
Improvement of severe diarrhea by dimethylsulfoxide in a case of AA type secondary amyloidosis.
, 1989 Yoko Okuma +5 more
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Assessment of Cardiac Amyloidosis with 99mTc-Pyrophosphate (PYP) Quantitative SPECT [PDF]
, 2020 Chao Ren +10 more
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635 AMYLOIDOSIS AND THE ILE68LEU MUTATION OF THE TTR GENE: A RARE DISEASE YOU CAN TREAT. [PDF]
, 2022 Maria Laura Novembre
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Detection of vascular amyloid deposits in a bone marrow aspirate
British Journal of Haematology, EarlyView.
Konstantinos Liapis +3 more
wiley +1 more source
Journal of Cardiovascular Electrophysiology, EarlyView.ABSTRACT Background Cardiac amyloidosis is commonly associated with cardiac conduction disease. We sought to determine the prevalence of advanced conduction disease requiring a pacemaker in patients with known cardiac amyloidosis to evaluate current screening practices among patients receiving pacemakers.
Peishan Cai +4 more
wiley +1 more source