Results 21 to 30 of about 7,937 (220)

Tafamidis in transthyretin amyloid cardiomyopathy [PDF]

Clinical pharmacology and therapy, 2021
Transthyretin is primarily synthesized in the liver and transports thyroxine and vitamin A in the body. The transthyretin when dissociated into monomers can misfold and ultimately form amyloid fibrils. There are two types of ATTR amyloidosis: hereditary (caused by mutations in the TTR gene) and wild-type (also referred to as senile systemic amyloidosis)
S. Moiseev, V. Rameev
openaire   +1 more source

Transthyretin cardiac amyloidosis: an under-diagnosed cause of heart failure [PDF]

Journal of Community Hospital Internal Medicine Perspectives, 2014
Introduction: Cardiac amyloidosis is the most common cause of infiltrative cardiomyopathy and is associated with a poor prognosis. Transthyretin cardiac amyloidosis, particularly the type caused by the mutation that replaces the amino acid valine with ...
Gabriela Molina O, Daniel Judge, Wayne Campbell, Harjit Chahal, Marc Mugmon   +4 more
doaj   +1 more source

Technical Feasibility of Implementing and Commercializing a Machine Learning Model for Rare Disease Prediction

IEEE Access, 2023
Wild-type transthyretin amyloid cardiomyopathy is an under-recognized cause of heart failure. Pfizer previously developed a machine learning model that performed well in identifying wild-type transthyretin amyloid cardiomyopathy vs.
George Koutitas, Kimberly Nolen, Sepideh Attal, Anastasios Ventouris, Yinnon Dolev, Hans Thijs Van Den Broek   +5 more
doaj   +1 more source

Uncovering the Mechanism of Aggregation of Human Transthyretin. [PDF]

, 2015
The tetrameric thyroxine transport protein transthyretin (TTR) forms amyloid fibrils upon dissociation and monomer unfolding. The aggregation of transthyretin has been reported as the cause of the life-threatening transthyretin amyloidosis.
Cascio, Duilio, Eisenberg, David S, Jiang, Lin, Johnson, Lisa M, Liang, Wilson Y, Riek, Roland, Ruchala, Piotr, Saelices, Lorena, Sawaya, Michael R, Whitelegge, Julian   +9 more
core   +2 more sources

Inotersen therapy of transthyretin amyloid cardiomyopathy [PDF]

Amyloid, 2019
Background: Cardiomyopathy is a major cause of death in patients with systemic transthyretin amyloidosis. Long term effect of therapy designed to inhibit hepatic production of the amyloid precursor has not been established in cardiomyopathy. The purpose of this study was to evaluate the long term safety and efficacy of transthyretin specific antisense ...
Noel R, Dasgupta, Stacy M, Rissing, Jessica, Smith, Jeesun, Jung, Merrill D, Benson   +4 more
openaire   +2 more sources

The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa [PDF]

, 2016
Transthyretin (TTR) pV142I (rs76992529-A) is one of the 113 variants in the human TTR gene associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in the codon for amino acid 122 of the mature protein (TTR V122I ...
Alexander, Alice A, Buxbaum, Joel N., Garvey, W. T, Jacobson, Daniel R, Kalidi, Issa, Modiano, David, Sirima, Sodiomon B, Tagoe, Clement, Tishkoff, Sara, Toure, Amadou, Williams, Scott M   +10 more
core   +1 more source

Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype

罕见病研究, 2023
Hypertrophic cardiomyopathy (HCM) is cardiomyopathy with a clinical phenotype of cardiac hypertrophy. The etiology includes genetically defective encoding sarcomeres, congenital metabolic diseases such as lysosomal storage diseases, systemic amyloidosis ...
LIU Yanbo, TIAN Zhuang, ZHANG Shuyang
doaj   +1 more source

Senile Systemic Amyloidosis: Clinical Features at Presentation and Outcome [PDF]

, 2013
Background Cardiac amyloidosis is a fatal disease whose prognosis and treatment rely on identification of the amyloid type. In our aging population transthyretin amyloidosis (ATTRwt) is common and must be differentiated from other amyloid types.
Banypersad, SM, Dungu, J, Gibbs, SD, Gilbertson, JA, Gillmore, JD, Hawkins, PN, Lachmann, HJ, McCarthy, CA, Petrie, A, Pinney, JH, Rowczenio, D, Sattianayagam, P, Venner, CP, Wassef, N, Wechalekar, A, Whelan, CJ   +15 more
core   +1 more source

Semi-Quantitative Models for Identifying Potent and Selective Transthyretin Amyloidogenesis Inhibitors [PDF]

, 2017
Rate-limiting dissociation of the tetrameric protein transthyretin (TTR), followed by monomer misfolding and misassembly, appears to cause degenerative diseases in humans known as the transthyretin amyloidoses, based on human genetic, biochemical and ...
Choi, Sungwook, Connelly, Stephen, Johnson, Steven M., Kelly, Jeffery W., Mortenson, David E., Powers, Evan T., Wilson, Ian A.   +6 more
core   +2 more sources

Single-centre experience on transthyretin familial amyloid polyneuropathy : case series and literature review [PDF]

, 2018
Familial amyloid polyneuropathy (FAP) is a most often length-dependent axonal neuropathy, often part of a multisystem disorder also affecting other organs, such as cardiac, gastrointestinal, genitourinary, renal, meningeal and eye tissue.
De Bleecker, Jan, De Pauw, Michel, Martens, Broes   +2 more
core   +2 more sources