Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.F53V
Back to variants list

TTR

NM_000371.4:p.F53V

Associated Papers

Human-Induced Pluripotent Stem Cell Models for Amyloid Cardiomyopathy: From Mechanistic Insights to Therapeutic Discovery.

Liu Y et al.

Journal of Cardiovascular Development and Disease, 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

A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals of Neurology, 2025

Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.

Senem I et al.

Journal of Neurology, 2025

Early Detection of Cardiac Amyloidosis in Transthyretin Mutation Carriers.

Nagano N et al.

International Heart Journal, 2022

Application of optical coherence tomography angiography to assess systemic severity in patients with hereditary transthyretin amyloidosis.

Kakihara S et al.

Plos One, 2022

Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation.

Chu X et al.

Frontiers in Molecular Neuroscience, 2022

Splenic regression of amyloid on multi-modality imaging in response to treatment with patisiran and diflunisal in hereditary transthyretin amyloidosis.

Patel RK et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021

Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val.

Shan H et al.

Stem Cell Research, 2020

Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.

Rowczenio D et al.

Human Mutation, 2019

Ophthalmological manifestations of hereditary transthyretin amyloidosis.

Gondim FAA et al.

Arquivos Brasileiros De Oftalmologia, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."