Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.A45G
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TTR

NM_000371.4:p.A45G

Associated Papers

Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three Immunoassays.

Berends M et al.

Journal of Clinical Medicine, 2026

41753271 (PubMed )
Supplement: jcm-15-01584-s001.zip › jcm-4123428-supplementary.pdf

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

Hereditary transthyretin cardiac amyloidosis with Glu109Lys mutation presenting with low sensitivity to 99mTc pyrophosphate in scintigraphy: a case description.

Wei YP et al.

Quantitative Imaging in Medicine and Surgery, 2025

Transthyretin mutagenesis: impact on amyloidogenesis and disease.

Almeida ZL et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Coelho T et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022

Imaging cardiac innervation in hereditary transthyretin (ATTRm) amyloidosis: A marker for neuropathy or cardiomyopathy in case of heart failure?

Jonker DL et al.

Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology, 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

[Hereditary and acquired transthyretin-mediated amyloidosis].

van der Bie MH et al.

Nederlands Tijdschrift Voor Geneeskunde, 2020

A pair of peptides inhibits seeding of the hormone transporter transthyretin into amyloid fibrils.

Saelices L et al.

The Journal of Biological Chemistry, 2019

Abnormal small bowel motility in patients with hereditary transthyretin amyloidosis.

Wixner J et al.

Neurogastroenterology and Motility, 2018

Frequency of and Prognostic Significance of Cardiac Involvement at Presentation in Hereditary Transthyretin-Derived Amyloidosis and the Value of N-Terminal Pro-B-Type Natriuretic Peptide.

Klaassen SHC et al.

The American Journal of Cardiology, 2018

(99m)Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis.

Pilebro B et al.

Upsala Journal of Medical Sciences, 2016

Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G).

Klaassen SHC et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."