Results 21 to 30 of about 8,194 (217)

Stratifying Disease Progression in Patients With Cardiac ATTR Amyloidosis [PDF]

Journal of the American College of Cardiology
Adam Ioannou, Rishi K Patel
exaly   +2 more sources

Plasmin activity promotes amyloid deposition in a transgenic model of human transthyretin amyloidosis

Nature Communications, 2021
ATTR amyloidosis causes heart failure through the accumulation of misfolded transthyretin in cardiac muscle. Here the authors report a mouse model of ATTR amyloidosis and demonstrate the involvement of protease activity in ATTR amyloid deposition.
Ivana Slamova, Rozita Adib, Stephan Ellmerich, Michal R. Golos, Janet A. Gilbertson, Nicola Botcher, Diana Canetti, Graham W. Taylor, Nigel Rendell, Glenys A. Tennent, Guglielmo Verona, Riccardo Porcari, P. Patrizia Mangione, Julian D. Gillmore, Mark B. Pepys, Vittorio Bellotti, Philip N. Hawkins, Raya Al-Shawi, J. Paul Simons   +18 more
doaj   +1 more source

Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner

BMC Family Practice, 2020
Background Transthyretin amyloidosis (also known as ATTR amyloidosis) is a systemic, life-threatening disease characterized by transthyretin (TTR) fibril deposition in organs and tissue. A definitive diagnosis of ATTR amyloidosis is often a challenge, in
Morie Gertz, David Adams, Yukio Ando, João Melo Beirão, Sabahat Bokhari, Teresa Coelho, Raymond L. Comenzo, Thibaud Damy, Sharmila Dorbala, Brian M. Drachman, Marianna Fontana, Julian D. Gillmore, Martha Grogan, Philip N. Hawkins, Isabelle Lousada, Arnt V. Kristen, Frederick L. Ruberg, Ole B. Suhr, Mathew S. Maurer, Jose Nativi-Nicolau, Candida Cristina Quarta, Claudio Rapezzi, Ronald Witteles, Giampaolo Merlini   +23 more
doaj   +1 more source

Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis

International Journal of Retina and Vitreous, 2022
Background Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare condition where a mutation in the transthyretin gene leads to systemic deposition of amyloid.
Nikhil S. Patil, Munir M. Iqbal, Lulu L. C. D. Bursztyn   +2 more
doaj   +1 more source

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

Human Genomics, 2021
Background Familial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated.
Mohamed Abouelhoda, Dania Mohty, Islam Alayary, Brian F. Meyer, Stefan T. Arold, Bahaa M. Fadel, Dorota Monies   +6 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

Best Practices in Specialized Amyloidosis Centers in the United States: A Survey of Cardiologists, Nurses, Patients, and Patient Advocates

Clinical Medicine Insights: Cardiology, 2021
Background: Because transthyretin amyloid cardiomyopathy (ATTR-CM) poses unique diagnostic and therapeutic challenges, referral of patients with known or suspected disease to specialized amyloidosis centers is recommended.
Jose Nativi-Nicolau, Nitasha Sarswat, Johana Fajardo, Muriel Finkel, Younos Abdulsattar, Adam Castaño, Lori Klein, Alexandra Haddad-Angulo   +7 more
doaj   +1 more source

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

Electrophysiological demyelinating features in hereditary ATTR amyloidosis [PDF]

Amyloid, 2019
To elucidate the electrophysiological demyelinating features in patients with hereditary ATTR amyloidosis that may lead to a misdiagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP).In 102 patients with hereditary ATTR amyloidosis (85 Val30Met and 17 non-Val30Met; 37 and 65 from endemic and non-endemic areas, respectively), results of ...
Nobuhiko, Ohashi, Minori, Kodaira, Hiroshi, Morita, Yoshiki, Sekijima   +3 more
openaire   +2 more sources

Antibody-Associated Reversal of ATTR Amyloidosis–Related Cardiomyopathy

New England Journal of Medicine, 2023
No ...
Marianna Fontana, Janet Gilbertson, Guglielmo Verona, Mattia Riefolo, Ivana Slamova, Ornella Leone, Dorota Rowczenio, Nicola Botcher, Adam Ioannou, Rishi K. Patel, Yousuf Razvi, Ana Martinez-Naharro, Carol J. Whelan, Lucia Venneri, Amanda Duhlin, Diana Canetti, Stephan Ellmerich, James C. Moon, Peter Kellman, Raya Al-Shawi, Laura McCoy, J. Paul Simons, Philip N. Hawkins, Julian D. Gillmore   +23 more
openaire   +5 more sources