Results 1 to 10 of about 10,856 (192)

Amyloidogenicity assessment of transthyretin gene variants [PDF]

Annals of Clinical and Translational Neurology, 2022
Objective Hereditary transthyretin‐mediated amyloidosis is a treatable condition caused by amyloidogenic variants in the transthyretin‐gene resulting in severe peripheral neuropathy or cardiomyopathy.
Nicolai B. Grether, Felix Napravnik, Thomas Imhof, Reinhold P. Linke, Jan H. Bräsen, Jessica Schmitz, Maike Dohrn, Christian Schneider, Martin K. R. Svačina, Jörg Stetefeld, Manuel Koch, Helmar C. Lehmann   +11 more
doaj   +2 more sources

Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review

Biomedicines, 2023
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly diagnosed condition. Although wild-type transthyretin amyloidosis (ATTRwt) is the most common ATTR-CM, hereditary transthyretin amyloidosis (ATTRv) may also occur.
Ana-Maria Merino-Merino, Jorge Labrador-Gomez, Ester Sanchez-Corral, Pedro-David Delgado-Lopez, Jose-Angel Perez-Rivera   +4 more
doaj   +1 more source

Cardiac Transthyretin Amyloidosis: Hidden in Plain Sight

Case Reports in Medicine, 2021
Amyloidosis is an underappreciated medical condition with symptoms camouflaging as common medical comorbidities leading to its underdiagnosis due to its systemic involvement.
Constantine N. Logothetis, Joel Fernandez, Damian A. Laber   +2 more
doaj   +1 more source

Restrictive Atrial Dysfunction in Cardiac Amyloidosis: Differences between Immunoglobulin Light Chain and Transthyretin Cardiac Amyloidosis Patients

Biomedicines, 2022
Background: In cardiac amyloidosis, the prevalence of thromboembolic events and atrial fibrillation is higher in transthyretin amyloidosis compared to immunoglobulin light chain amyloidosis.
Mathijs O. Versteylen, Maaike Brons, Arco J. Teske, Marish I. F. J. Oerlemans   +3 more
doaj   +1 more source

Transthyretin Amyloidosis: Chaperone Concentration Changes and Increased Proteolysis in the Pathway to Disease. [PDF]

PLoS ONE, 2015
Transthyretin amyloidosis is a conformational pathology characterized by the extracellular formation of amyloid deposits and the progressive impairment of the peripheral nervous system.
Gonçalo da Costa, Cristina Ribeiro-Silva, Raquel Ribeiro, Samuel Gilberto, Ricardo A Gomes, António Ferreira, Élia Mateus, Eduardo Barroso, Ana V Coelho, Ana Ponces Freire, Carlos Cordeiro   +10 more
doaj   +1 more source

Decreased transthyretin predicts a poor prognosis in primary myelodysplastic syndrome

Frontiers in Nutrition, 2023
BackgroundThis study aims to investigate the prognostic significance of transthyretin in newly diagnosed myelodysplastic syndromes (MDS).MethodsThe clinical, laboratory, and follow-up data of 280 newly diagnosed patients with MDS were collected.
Ying Chen, Ying Chen, Tingting Niu, Tingting Niu, Ting Chen, Ting Chen, Yue Wu, Yue Wu, Duobing Zou, Duobing Zou, Cong Shi, Cong Shi, Ying Wu, Ying Wu, Zhaoyi Zhang, Zhaoyi Zhang, Ningning Wu, Ningning Wu, Yi Zhang, Yi Zhang, Xiao Yan, Xiao Yan, Lixia Sheng, Lixia Sheng, Dingfeng Lv, Guifang Ouyang, Guifang Ouyang, Xueqin Chen, Qitian Mu, Qitian Mu   +29 more
doaj   +1 more source

Aggregated transthyretin is specifically packaged into placental nano-vesicles in preeclampsia

Scientific Reports, 2017
In preeclampsia, the serum levels of transthyretin, a carrier protein for thyroxine, are elevated. Transthyretin isolated from preeclamptic serum is also aggregated and can induce preeclampsia-like symptoms in pregnant IL10−/− mice.
Mancy Tong, Shi-bin Cheng, Qi Chen, Joana DeSousa, Peter R. Stone, Joanna L. James, Lawrence W. Chamley, Surendra Sharma   +7 more
doaj   +1 more source

Hereditary cardiac amyloidosis associated with Pro24Ser transthyretin mutation: a case report

Journal of Medical Case Reports, 2018
Background Transthyretin amyloidosis is a systemic disorder caused by extracellular deposition of insoluble amyloid fibrils in peripheral and autonomic nerves, heart, kidney, gastrointestinal tract, and other organs.
Hiroyuki Yamamoto, Toru Hashimoto, Shunji Kawamura, Michiaki Hiroe, Taro Yamashita, Yukio Ando, Tomoki Yokochi   +6 more
doaj   +1 more source

Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis

Cardiology Journal, 2022
BACKGROUND: Transthyretin amyloidosis (ATTR) is a rare, life-threatening systemic disorder. We present first findings on the cardiac hereditary ATTR in Poland.
Monika Gawor, Katarzyna Holcman, Maria Franaszczyk, Marta Lipowska, Piotr Michałek, Anna Teresińska, Zofia T. Bilińska, Paweł Rubiś, Magdalena Kostkiewicz, Wojciech Szot, Piotr Podolec, Jacek Grzybowski   +11 more
doaj   +1 more source

A novel mechano‐enzymatic cleavage mechanism underlies transthyretin amyloidogenesis

EMBO Molecular Medicine, 2015
The mechanisms underlying transthyretin‐related amyloidosis in vivo remain unclear. The abundance of the 49–127 transthyretin fragment in ex vivo deposits suggests that a proteolytic cleavage has a crucial role in destabilizing the tetramer and releasing
Julien Marcoux, P Patrizia Mangione, Riccardo Porcari, Matteo T Degiacomi, Guglielmo Verona, Graham W Taylor, Sofia Giorgetti, Sara Raimondi, Sarah Sanglier‐Cianférani, Justin LP Benesch, Ciro Cecconi, Mohsin M Naqvi, Julian D Gillmore, Philip N Hawkins, Monica Stoppini, Carol V Robinson, Mark B Pepys, Vittorio Bellotti   +17 more
doaj   +1 more source