Results 81 to 90 of about 11,812,623 (407)

Exploring ITM2A as a new potential target for brain delivery

Fluids and Barriers of the CNS, 2022
Background Integral membrane protein 2A (ITM2A) is a transmembrane protein expressed in a variety of tissues; little is known about its function, particularly in the brain.
Céline Cegarra, C. Chaves, C. Déon, T. M. Do, B. Dumas, A. Frenzel, P. Kuhn, V. Roudieres, J. C. Guillemot, D. Lesuisse   +9 more
doaj   +1 more source

Long-tailed multi-label classification with noisy label of thoracic diseases from chest X-ray [PDF]

arXiv, 2023
Chest X-rays (CXR) often reveal rare diseases, demanding precise diagnosis. However, current computer-aided diagnosis (CAD) methods focus on common diseases, leading to inadequate detection of rare conditions due to the absence of comprehensive datasets.
arxiv  

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

Regulating Rare Disease: Safely Facilitating Access to Orphan Drugs [PDF]

, 2018
While approximately one in ten Americans suffers from a rare disease, only 5 percent of rare diseases have a U.S. Food and Drug Administration (FDA) approved treatment.
Bannister, Julien B.
core   +1 more source

Innovative research methods for studying treatments for rare diseases: methodological review [PDF]

, 2015
Objective: To examine methods for generating evidence on health outcomes in patients with rare diseases. Design: Methodological review of existing literature.
Gagne, Joshua J, Kesselheim, Aaron S, O’Keefe, Kelly, Thompson, Lauren   +3 more
core   +1 more source

Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy

罕见病研究
Type Ⅰ interferonopathy is an autoinflammatory disease that affects multiple systems, with a high disability and mortality rate. It profoundly impacts the quality of life of patients and poses a considerable burden on their families and society.
Chinese Alliance of Pediatric Rheumatic & Immunologic Diseases, Chinese Pharmacists Association Rare Diseases Medication Working Committee   +1 more
doaj   +1 more source

Thioredoxin and Glutaredoxin Systems as Potential Targets for the Development of New Treatments in Friedreich’s Ataxia

Antioxidants, 2020
The thioredoxin family consists of a small group of redox proteins present in all organisms and composed of thioredoxins (TRXs), glutaredoxins (GLRXs) and peroxiredoxins (PRDXs) which are found in the extracellular fluid, the cytoplasm, the mitochondria ...
Marta Seco-Cervera, Pilar González-Cabo, Federico V. Pallardó, Carlos Romá-Mateo, José Luis García-Giménez   +4 more
doaj   +1 more source

Longitudinal evolution of sleep disturbances in early multiple system atrophy: a 2‐year prospective cohort study

BMC Medicine, 2023
Background The progression of sleep disturbances remains unclear in patients with early multiple system atrophy (MSA). We aimed to explore the frequency, severity, and coexistence of 2-year longitudinal changes of sleep disturbances including REM sleep ...
Lingyu Zhang, Yanbing Hou, Chunyu Li, Qianqian Wei, Ruwei Ou, Kuncheng Liu, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Bi Zhao, Huifang Shang   +11 more
doaj   +1 more source

Precision Medicine in Rare Diseases

Diseases, 2020
Rare diseases are those that have a low prevalence in the population (less than 5 individuals per 10,000 inhabitants). However, infrequent pathologies affect a large number of people, since according to the World Health Organization (WHO), there are ...
Irene Villalón-García, Mónica Álvarez-Córdoba, J. M. Suárez-Rivero, Suleva Povea-Cabello, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, J. Sánchez-Alcázar   +7 more
semanticscholar   +1 more source

Flow‐based immunomagnetic enrichment of circulating tumor cells from diagnostic leukapheresis product

Molecular Oncology, EarlyView.
The number of circulating tumor cells obtained from prostate cancer patients was increased approximately 5‐fold compared to regular CellSearch when processing 2 mL diagnostic leukapheresis material aliquots and increased by 44‐fold when processing 20 mL DLA aliquots using the flow enrichment target capture Halbach‐array.
Michiel Stevens, Anouk Mentink, Frank A. W. Coumans, Eshwari Dathathri, Khrystany T. Isebia, Jaco Kraan, Ronald de Wit, John W. M. Martens, Leon W. M. M. Terstappen   +8 more
wiley   +1 more source