Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.H108R
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TTR

NM_000371.4:p.H108R

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

Sixty years of experience with hereditary transthyretin amyloidosis: Insights from the Swedish transthyretin amyloidosis registry.

Stenberg L et al.

Journal of Internal Medicine, 2025

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Singh A et al.

Journal of Clinical Medicine, 2025

41095902 (PubMed )
Supplement: jcm-14-06821-s001.zip › jcm-3769433-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

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

Cardiopulmonary Exercise Testing Correlates with Quantitative Left Ventricular [99mTc]-DPD Uptake in Transthyretin Amyloid Cardiomyopathy.

Ermolaev N et al.

Journal of Clinical Medicine, 2025

A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hereditary transthyretin cardiomyopathy.

Pyankov IA et al.

Journal of Structural Biology, 2025

His108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.

Binder C et al.

Journal of Clinical Medicine, 2024

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

Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review.

Yu TP et al.

Acta Cardiologica, 2024

Primary Data on ATTR-Amyloidosis Prevalence Among Elderly Patients With Left Ventricular Hypertrophy in Russia.

Nikiforova TV et al.

Kardiologiia, 2024

Reduction in 99mTc-DPD myocardial uptake with therapy of ATTR cardiomyopathy.

Rettl R et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024

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

Cardiac [99mTc]Tc-hydroxydiphosphonate uptake on bone scintigraphy in patients with hereditary transthyretin amyloidosis: an early follow-up marker?

Tingen HSA et al.

European Journal of Nuclear Medicine and Molecular Imaging, 2024

Amyloid Burden Correlates with Electrocardiographic Findings in Patients with Cardiac Amyloidosis-Insights from Histology and Cardiac Magnetic Resonance Imaging.

Duca F et al.

Journal of Clinical Medicine, 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

Does [99mTc]-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) soft tissue uptake allow the identification of patients with the diagnosis of cardiac transthyretin-related (ATTR) amyloidosis with higher risk for polyneuropathy?

Wollenweber T et al.

Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology, 2023

Effect of alanine versus serine at position 88 of human transthyretin mutants on the protein stability.

Lee KH et al.

Protein Engineering, Design & Selection : Peds, 2023

Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.

Chumakova OS et al.

Frontiers in Cardiovascular Medicine, 2023

High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.

Tzagournissakis M et al.

Neurology. Genetics, 2022

Clinical recommendations to diagnose and monitor patients with transthyretin amyloid cardiomyopathy in Asia.

Lin W et al.

Clinical Cardiology, 2022

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

Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.

Wang S et al.

Frontiers in Cardiovascular Medicine, 2022

Management of transthyretin amyloidosis.

Condoluci A et al.

Swiss Medical Weekly, 2021

Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore.

Chen Z et al.

Journal of Neuromuscular Diseases, 2021

Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement.

Bonderman D et al.

Wiener Klinische Wochenschrift, 2020

In Vivo Quantification of Myocardial Amyloid Deposits in Patients with Suspected Transthyretin-Related Amyloidosis (ATTR).

Wollenweber T et al.

Journal of Clinical Medicine, 2020

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.

Auer-Grumbach M et al.

Journal of Clinical Medicine, 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

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

A genealogical and clinical study of the phenotypical variation within the Swedish transthyretin His88Arg (p. His108Arg) amyloidosis family.

Hellman U et al.

European Journal of Medical Genetics, 2015

Coronary ectasia in amyloid cardiomyopathy and neuropathy due to the transthyretin mutation c.323A>G.

Finsterer J et al.

Heart & Lung : the Journal of Critical Care, 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."