Results 61 to 70 of about 141,957 (168)

Real-life experience with inotersen at CEPARM, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro

Arquivos de Neuro-Psiquiatria
Background Hereditary transthyretin amyloidosis (ATTRv) is an inherited, progressive, and fatal disease still largely underdiagnosed. Mutations in the transthyretin (TTR) gene cause the TTR protein to destabilize, misfold, aggregate, and ...
Moises Dias, Luiz Felipe Pinto, Marcus Vinícius Pinto, Renata Gervais, Paula Accioli, Gabriela Amorim, Mariana Guedes, Carlos Perez Gomes, Roberto Coury Pedrosa, Márcia Waddington-Cruz   +9 more
doaj   +1 more source

A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant

Translational Neuroscience, 2022
We report a 30-year-old man involving gastrointestinal symptoms, vitreous opacity, and multiple cranial neuropathies. Transthyretin-related hereditary amyloidosis genetic testing revealed a rare c.251T > C variant p.(Phe84Ser).
Yan Xian-rang, Hong Ming-fan, Zhou Zhi-hua, Liu Ai-qun, Peng Zhong-xing, Wu Wei-feng, Jing Cheng, Lin Jia-xiu, Long Ying, Yu Qing-yun   +9 more
doaj   +1 more source

Role of FibroScan in evaluating hepatic involvement in systemic amyloidosis: a single‐centre prospective pilot study

Internal Medicine Journal, EarlyView.
Abstract Background Amyloidosis encompasses a group of diseases characterised by extracellular deposition of misfolded protein fibrils, potentially leading to organ dysfunction. Liver involvement occurs via direct amyloid infiltration, common in immunoglobulin light chain (AL) amyloidosis, or congestive hepatopathy, more typical in transthyretin (ATTR)
M Tang, N Vootukuru, J Tjahyadi, D Clayton Chubb, H Jina, SB Ting, S Bloom, R Sawhney, S Gibbs, O. Niewiadomski   +9 more
wiley   +1 more source

Transthyretin-Related Hereditary Amyloidosis in a Chinese Family with TTR Y114C Mutation

, 2010
<i>Background:</i> Transthyretin-related hereditary amyloidosis is an autosomal dominant inherited disease caused by mutations in the transthyretin <i>(TTR)</i> gene. Corresponding to the various transthyretin gene mutations and a
Jian-Fang Ma, Zhen Hong, Sheng-Di Chen, Yu-Lei Deng, Qin Xiao, Yu Zhang, Lan Zheng, Li Cao, Cheng-Yu Sheng, Zhi-Quan Wang   +9 more
core   +1 more source

A case of transthyretin-related cerebral amyloid angiopathy. The other side of hereditary transthyretin amyloidosis.

, 2022
International audienceThe target organs for familial transthyretin amyloidosis are typically the nerves, the heart or even the eyes due to the accumulation of amyloid deposits.
Delbeuck, Xavier, Tard, Celine, Gibier, Jean-Baptiste, Lebouvier, Thibaud   +3 more
core   +1 more source

Physical stability of RNA–lipid nanoparticles under agitation, freeze–thaw and accelerated stability testing

Journal of Chemical Technology &Biotechnology, Volume 101, Issue 11, Page 2293-2300, November 2026.
Abstract BACKGROUND The choice of excipient is important in enhancing stability of liquid formulations containing lipid nanoparticles (LNPs) used in RNA delivery where the ability to survive unplanned excursions to higher and lower temperature and vibration is an important attribute.
Franz W Laurett Veras, Leah Wright, Robert J Falconer   +2 more
wiley   +1 more source

Clinical diagnosis and typing of systemic amyloidosis in subcutaneous fat aspirates by mass spectrometry-based proteomics

Haematologica, 2014
Examination of abdominal subcutaneous fat aspirates is a practical, sensitive and specific method for the diagnosis of systemic amyloidosis. Here we describe the development and implementation of a clinical assay using mass spectrometry-based proteomics ...
Julie A. Vrana, Jason D. Theis, Surendra Dasari, Oana M. Mereuta, Angela Dispenzieri, Steven R. Zeldenrust, Morie A. Gertz, Paul J. Kurtin, Karen L. Grogg, Ahmet Dogan   +9 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

Molecular Mobility of N‐Acetylgalactosamine‐Modified Cyclodextrins on a Polyrotaxane for Highly Efficient Liver Targeting of Antibody Chimeras and Genome‐Editing Ribonucleoproteins

Advanced Science, Volume 13, Issue 49, 3 September 2026.
Monovalent N‐acetylgalactosamine (GalNAc)‐modified polyrotaxane enables efficient liver targeting by utilizing ligand mobility. The sliding and rotating cyclic components i.e., cyclodextrin in the polyrotaxane dynamically cluster GalNAc moieties, thereby mimicking trivalent interactions with asialoglycoprotein receptors.
Toru Taharabaru, Keiichi Motoyama, Yuting Wen, Zhongxing Zhang, Xuehao Tian, Jun Li, Taishi Higashi   +6 more
wiley   +1 more source

CRISPR‐Cas9 and precision editing technologies linking functional genomics to clinical translation in genetic diseases

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
CRISPR‐Cas9 and precision editing technologies enable a variant‐mechanism‐driven framework for genetic disease research and therapeutic development. Pathogenic variants are first interpreted according to mutation type, coding or regulatory consequence, tissue context, and disease mechanism.
Zijing Wen, Jianming Su
wiley   +1 more source