Associated Papers
Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare.
Avery C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical Medicine, 2025
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
40998828 (PubMed )
Supplement: 41540_2025_582_MOESM1_ESM.pdf
Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region.
Jacoby E et al.
Muscle & Nerve, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
39575713 (PubMed )
Supplement: JAH3-13-e033770-s001.pdf
Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Cardiology and Therapy, 2024
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Gentile L et al.
Orphanet Journal of Rare Diseases, 2023
37946256 (PubMed )
Supplement: 13023_2023_2962_MOESM1_ESM.docx
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
Dispenzieri A et al.
Orphanet Journal of Rare Diseases, 2022
35717381 (PubMed )
Supplement: 13023_2022_2359_MOESM1_ESM.docx
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Cardiac Implantable Electronic Devices: A Window Into the Evolution of Conduction Disease in Cardiac Amyloidosis.
Rehorn MR et al.
Jacc. Clinical Electrophysiology, 2020
Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration.
Ibrahim RB et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Transthyretin amyloidosis: Putting myopathy on the map.
Pinto MV et al.
Muscle & Nerve, 2020
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
28335735 (PubMed )
Supplement: 12864_2017_3646_MOESM1_ESM.pdf
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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