Results 31 to 40 of about 141,957 (168)

Hereditary and acquired transthyretin-mediated amyloidosis [PDF]

, 2020
We describe three cases, two 70-year-old males with mainly cardiac symptoms and a 34-year-old male with gastro-intestinal and neurologic symptoms. Each patient was shown to have a distinctive type of transthyretin-mediated amyloidosis (ATTR).
van der Bie, Maarten H, van Daele, Paul L A, Hazenberg, Bouke P C; id_orcid, Boots, J M M, Klaassen, Sebastiaan H C, Louter, Leonora   +5 more
core   +4 more sources

Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation

, 2020
Hereditary transthyretin amyloidosis is a rare progressive systemic disease. We describe a physically active 46-year-old man who presented with dyspnoea on exertion.
Szabó, Barna,, Björkenheim, Anna,, Sztaniszláv, Áron József,   +2 more
core   +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 clinical case of hereditary transthyretin amyloidosis with predominant involvement of the peripheral nervous system

Анналы клинической и экспериментальной неврологии
Hereditary transthyretin amyloidosis is a fatal systemic progressive disease caused by mutations in the transthyretin (TTR) gene, inherited in an autosomal dominant pattern, primarily affecting the peripheral and autonomic nervous systems and the heart ...
Elizaveta A. Guseva, Natalia A. Suponeva, Marianna V. Mukhacheva   +2 more
doaj   +1 more source

Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report

Journal of Medical Case Reports, 2017
Background Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy.
Benjamin Terrier, Magali Colombat, Caroline Beugnet, Astrid Quéant, Jonathan London, Jean-Baptiste Daudin, Claire Le Jeunne, Luc Mouthon, Dominique Monnet, Cécile Cauquil, Catherine Lacroix, David Adams, Antoine Brézin, Sophie Valleix   +13 more
doaj   +1 more source

New Medications in the Treatment of Hereditary Transthyretin Amyloidosis

, 2018
Hereditary transthyretin amyloidosis is an inherited disorder that results in the gradual progressive deposit of abnormal protein called amyloid in the body’s organs and tissues.
Scot Walker
core   +1 more source

TRANSTHYRETIN POLYNEUROPATHY (CLINICAL CASE)

Медицина в Кузбассе, 2023
Amyloidosis is a violation of protein metabolism, accompanied by the formation in tissues of a specific protein-polysaccharide complex (amyloid) of a fibrillar structure, characterized by a high orderliness of fibrils 5-10 nm thick due to the abundance ...
Наталья Викторовна Коробкова, Светлана Алексеевна Зуева, Ольга Валерьевна Рохленко, Вадим Гельевич Мозес, Елена Владимировна Рудаева, Светлана Ивановна Елгина, Кира Борисовна Мозес, Яэль Центер, Наталья Степановна Черных   +8 more
doaj  

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

Misdiagnosis of hereditary amyloidosis as AL (Primary) amyloidosis [PDF]

, 2002
Background: Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A -chain, lysozyme, or apolipoprotein A-I, is thought to be extremely rare and is not routinely included in the differential ...
Booth, D.R., Gilbertson, J.A., Hawkins, P.N., Booth, S.E., Lachmann, H.J., Gillmore, J.D., Bybee, A., Pepys, M.B.   +7 more
core  

DNA Nanotechnology Meets Peptide and Protein Self‐Assembly

Chemistry – A European Journal, EarlyView.
Combining DNA nanotechnology with peptide and protein assembly provides complementary platforms for the rational engineering of functional biomaterials. This Perspective discusses the emerging field of self‐assembling DNA‐peptide and DNA‐protein hybrid systems that combine the structural precision and programmability of DNA nanotechnology with the ...
Marcel Hanke, Nanjundan Raghul, Adrian Keller, Veikko Linko, Verónica I. Dodero   +4 more
wiley   +1 more source