Results 121 to 130 of about 11,812,623 (407)

Macaque models of human infectious disease. [PDF]

open access: yes, 2008
Macaques have served as models for more than 70 human infectious diseases of diverse etiologies, including a multitude of agents-bacteria, viruses, fungi, parasites, prions.
Abe   +330 more
core   +1 more source

Establishing Patient Registries for Rare Diseases: Rationale and Challenges

open access: yesPharmaceutical Medicine, 2020
Globally, an estimated 350 million people are affected by a rare disease diagnosis. Knowledge limitations persist for the majority of rare conditions due to systemic and structural challenges in healthcare and research.
V. Boulanger   +4 more
semanticscholar   +1 more source

TOMM20 as a driver of cancer aggressiveness via oxidative phosphorylation, maintenance of a reduced state, and resistance to apoptosis

open access: yesMolecular Oncology, EarlyView.
TOMM20 increases cancer aggressiveness by maintaining a reduced state with increased NADH and NADPH levels, oxidative phosphorylation (OXPHOS), and apoptosis resistance while reducing reactive oxygen species (ROS) levels. Conversely, CRISPR‐Cas9 knockdown of TOMM20 alters these cancer‐aggressive traits.
Ranakul Islam   +9 more
wiley   +1 more source

Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study

open access: yesOrphanet Journal of Rare Diseases
Background The delay in diagnosis for rare disease (RD) patients is often longer than for patients with common diseases. Machine learning (ML) technologies have the potential to speed up and increase the precision of diagnosis in this population group ...
Georgi Iskrov   +10 more
doaj   +1 more source

Multi-criteria decision analysis for assessment and appraisal of orphan drugs

open access: yesFrontiers in Public Health, 2016
Background: Limited resources and expanding expectations push all countries and types of health systems to adopt new approaches in priority setting and resources allocation.
Georgi Iskrov   +5 more
doaj   +1 more source

Longitudinal evolution of motor and non-motor symptoms in early-stage multiple system atrophy: a 2-year prospective cohort study

open access: yesBMC Medicine, 2022
Background The progression of motor and non-motor symptoms (NMS) and the sensitivity of each item of the Unified Multiple System Atrophy Rating Scale (UMSARS) to change remain unclear in Chinese patients with early-stage multiple system atrophy (MSA). We
Lingyu Zhang   +12 more
doaj   +1 more source

CONAN: Complementary Pattern Augmentation for Rare Disease Detection [PDF]

open access: yesarXiv, 2019
Rare diseases affect hundreds of millions of people worldwide but are hard to detect since they have extremely low prevalence rates (varying from 1/1,000 to 1/200,000 patients) and are massively underdiagnosed. How do we reliably detect rare diseases with such low prevalence rates?
arxiv  

Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration

open access: yesAntioxidants, 2020
Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as ...
C. Espinós   +11 more
semanticscholar   +1 more source

The atypical KRASQ22K mutation directs TGF‐β response towards partial epithelial‐to‐mesenchymal transition in patient‐derived colorectal cancer tumoroids

open access: yesMolecular Oncology, EarlyView.
TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair   +17 more
wiley   +1 more source

Home - About - Disclaimer - Privacy