Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.D38A
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TTR

NM_000371.4:p.D38A

Associated Papers

A shared amyloid fold in cardiac fibrils from three neuropathy-associated ATTR variants.

Fernandez-Ramirez MDC et al.

Structure (london, England : 1993), 2026

Unique TTR Variants D38A and M13dup Among Korean Patients with Hereditary Transthyretin Amyloidosis: A Retrospective Single-Center Cohort Study.

Park MS et al.

Annals of Laboratory 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

Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.

Nomura T et al.

Orphanet Journal of Rare Diseases, 2025

A Shared Amyloid Architecture in Cardiac Fibrils from Three Neuropathy-Associated ATTR Variants.

Fernandez-Ramirez MDC et al.

Biorxiv : the Preprint Server for Biology, 2025

A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals of Neurology, 2025

Poor Outcome of the p.Ser43Asn TTR Variant Causing Hereditary Transthyretin Amyloidosis in Korea.

An SY et al.

International Journal of Heart Failure, 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

Transthyretin mutagenesis: impact on amyloidogenesis and disease.

Almeida ZL et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

Diflunisal versus tafamidis on neuropathy and cardiomyopathy in hereditary transthyretin amyloidosis.

Chao CC et al.

Annals of Clinical and Translational Neurology, 2024

Diagnostic Pitfall and Clinical Characteristics of Variant Versus Wild-Type Transthyretin Amyloid Cardiomyopathy in Asian Population: The Korean Nationwide Cohort Study.

Kim D et al.

Journal of Korean Medical Science, 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

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

Characterising diflunisal as a transthyretin kinetic stabilizer at relevant concentrations in human plasma using subunit exchange.

Tsai FJ et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023

A Novel Transthyretin Gene Mutation in Hereditary Transthyretin Amyloidosis: A Case Series of Met13dup Patients.

Jeon K et al.

Korean Circulation Journal, 2023

Transthyretin Stabilizers and Seeding Inhibitors as Therapies for Amyloid Transthyretin Cardiomyopathy.

Morfino P et al.

Pharmaceutics, 2023

Pharmacological Chaperones and Protein Conformational Diseases: Approaches of Computational Structural Biology.

Grasso D et al.

International Journal of Molecular Sciences, 2023

Cardiac Amyloidosis: A Rare TTR Mutation Found in an Asian Female.

Mouksian K et al.

Journal of Cardiovascular Development and Disease, 2023

Drug and Gene Therapy for Treating Variant Transthyretin Amyloidosis (ATTRv) Neuropathy.

Dardiotis E et al.

Current Neuropharmacology, 2023

Rare manifestation of familial vitreous amyloidosis caused by Gly103Arg transthyretin.

Feng YB et al.

International Journal of Ophthalmology, 2023

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

Analysis of amyloidogenic transthyretin mutations using continuum solvent free energy calculations.

Hartmann J et al.

Proteins, 2022

Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.

Patel JK et al.

Neurology and Therapy, 2022

Amyloid seeding as a disease mechanism and treatment target in transthyretin cardiac amyloidosis.

Morfino P et al.

Heart Failure Reviews, 2022

A pilot study of nailfold capillaroscopy in hereditary transthyretin amyloidosis.

Kim D et al.

Scientific Reports, 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

Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.

Taniguchi T et al.

Journal of Human Genetics, 2022

OCULAR MANIFESTATIONS OF ASP38ALA AND THR59LYS FAMILIAL TRANSTHYRETIN AMYLOIDOSIS.

Choi KJ et al.

Retina (philadelphia, Pa.), 2022

Monitoring the Patient with Retinal Angiopathy Associated with Hereditary Transthyretin Amyloidosis: Current Perspectives.

Marques JH et al.

Clinical Ophthalmology (auckland, N.z.), 2022

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

Kakihara S et al.

Plos One, 2022

A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey.

González-Moreno J et al.

Neurology and Therapy, 2021

Transthyretin affects the proliferation and migration of human retinal microvascular endothelial cells in hyperglycemia via hnRNPA2B1.

Gu Y et al.

Biochemical and Biophysical Research Communications, 2021

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.

Du K et al.

Annals of Clinical and Translational Neurology, 2021

DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis.

Akinboboye O et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2020

Non-invasive detection and differentiation of cardiac amyloidosis using 99mTc-pyrophosphate scintigraphy and 11C-Pittsburgh compound B PET imaging.

Takasone K et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2020

Poor Yield of Routine Transthyretin Screening in Patients with Idiopathic Neuropathy.

Namiranian D et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2020

Characteristics of Patients with Hereditary Transthyretin Amyloidosis and an Evaluation of the Safety of Tafamidis Meglumine in Japan: An Interim Analysis of an All-case Postmarketing Surveillance.

Ishii T et al.

Clinical Therapeutics, 2020

Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care.

Luigetti M et al.

Therapeutics and Clinical Risk Management, 2020

Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review.

Lee YJ et al.

Neuropediatrics, 2019

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

Saelices L et al.

The Journal of Biological Chemistry, 2019

Electrophysiological demyelinating features in hereditary ATTR amyloidosis.

Ohashi N et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019

Hereditary transthyretin-related amyloidosis.

Finsterer J et al.

Acta Neurologica Scandinavica, 2019

Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis.

Choi K et al.

Journal of Clinical Neurology (seoul, Korea), 2018

Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial.

Waddington-Cruz M et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2018

Crystal structures of amyloidogenic segments of human transthyretin.

Saelices L et al.

Protein Science : a Publication of the Protein Society, 2018

Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.

Sekijima Y et al.

Orphanet Journal of Rare Diseases, 2018

Ocular Manifestations of Familial Transthyretin Amyloidosis.

Reynolds MM et al.

American Journal of Ophthalmology, 2017

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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."