Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.C10R
Back to variants list

TTR

NM_000371.4:p.C10R

Associated Papers

Profibrotic Biomarkers Correlate with Clinical Presentation and Outcome in Cardiac Transthyretin Amyloidosis.

Hein SJ et al.

International Journal of Molecular 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

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

Impact of mechanical stress on human transthyretin protein amyloid formation.

You M et al.

International Journal of Biological Macromolecules, 2025

Secretion of transthyretin: molecular mechanisms dependent on the endoplasmic reticulum.

Meng J et al.

Frontiers in Physiology, 2025

Prevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population.

Aung N et al.

Jama Cardiology, 2024

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

Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.

Carroll A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2022

Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Damy T et al.

European Heart Journal, 2022

[Diagnosis and treatment of cardiac transthyretin amyloidosis. Innovative therapy with tafamidis.]

Legrand D et al.

Revue Medicale De Liege, 2022

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.

Skrahina V et al.

Annals of Medicine, 2021

Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country.

Koutsis G et al.

Neuromuscular Disorders : Nmd, 2021

Ocular Involvement in Hereditary Amyloidosis.

Minnella AM et al.

Genes, 2021

Impaired in vitro growth response of plasma-treated cardiomyocytes predicts poor outcome in patients with transthyretin amyloidosis.

Hein S et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2021

Elevated interleukin-6 levels are associated with impaired outcome in cardiac transthyretin amyloidosis.

Hein SJ et al.

World Journal of Cardiology, 2021

TTRMDB: A database for structural and functional analysis on the impact of SNPs over transthyretin (TTR) using bioinformatic tools.

Srinivasan E et al.

Computational Biology and Chemistry, 2020

Quantitative sudomotor test helps differentiate transthyretin familial amyloid polyneuropathy from chronic inflammatory demyelinating polyneuropathy.

Fortanier E et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2020

Magnetization transfer ratio quantifies polyneuropathy in hereditary transthyretin amyloidosis.

Kollmer J et al.

Annals of Clinical and Translational Neurology, 2020

Amyloidosis and Ocular Involvement: an Overview.

Dammacco R et al.

Seminars in Ophthalmology, 2020

Cryo-EM structure of a transthyretin-derived amyloid fibril from a patient with hereditary ATTR amyloidosis.

Schmidt M et al.

Nature Communications, 2019

A cell-based high-throughput screening method to directly examine transthyretin amyloid fibril formation at neutral pH.

Ueda M et al.

The Journal of Biological Chemistry, 2019

New sequence variants in patients affected by amyloidosis show transthyretin instability by isoelectric focusing.

Hinderhofer K et al.

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

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

Update on the clinical utility of an RNA interference-based treatment: focus on Patisiran.

Rizk M et al.

Pharmacogenomics and Personalized Medicine, 2017

Transthyretin Amyloidosis: A "Zebra" of Many Stripes.

Semigran MJ

Journal of the American College of Cardiology, 2016

Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis.

Coelho T et al.

Neurology and Therapy, 2016

Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.

Parman Y et al.

Current Opinion in Neurology, 2016

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.

Rapezzi C et al.

European Heart Journal, 2013

Characterization and stability of transthyretin isoforms in cerebrospinal fluid examined by immunoprecipitation and high-resolution mass spectrometry of intact protein.

Poulsen K et al.

Methods (san Diego, Calif.), 2012

Familial amyloidotic polyneuropathy and transthyretin.

Nagasaka T

Sub-cellular Biochemistry, 2012

S-sulfonation of transthyretin is an important trigger step in the formation of transthyretin-related amyloid fibril.

Nakanishi T et al.

Biochimica Et Biophysica Acta, 2010

SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy.

Ueda M et al.

Clinical Chemistry, 2009

Novel methods for detecting amyloidogenic proteins in transthyretin related amyloidosis.

Ando Y et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

The molecular biology and clinical features of amyloid neuropathy.

Benson MD et al.

Muscle & Nerve, 2007

Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration.

Hou X et al.

The Febs Journal, 2007

Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point.

Rimessi P et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2006

The hereditary amyloidoses.

Benson MD

Best Practice & Research. Clinical Rheumatology, 2003

X-ray absorption spectroscopy reveals a substantial increase of sulfur oxidation in transthyretin (TTR) upon fibrillization.

Gales L et al.

The Journal of Biological Chemistry, 2003

Transthyretin: a review from a structural perspective.

Hamilton JA et al.

Cellular and Molecular Life Sciences : Cmls, 2001

Transthyretin mutations in hyperthyroxinemia and amyloid diseases.

Saraiva MJ

Human Mutation, 2001

A comparative analysis of 23 structures of the amyloidogenic protein transthyretin.

Hörnberg A et al.

Journal of Molecular Biology, 2000

Electrically neutral microheterogeneity of human plasma transthyretin (prealbumin) detected by isoelectric focusing in urea gradients.

Altland K et al.

Electrophoresis, 1999

[Hereditary amyloidosis].

Schmidt HH et al.

Der Internist, 1999

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."