Results 61 to 70 of about 3,349,140 (303)

Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research

Orphanet Journal of Rare Diseases, 2022
Background Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in children and adults with rare ...
Trine Bathen, Heidi Johansen, Hilde Strømme, Gry Velvin   +3 more
doaj   +1 more source

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

A Review of Spinocerebellar Ataxias in Taiwan

Acta Neurologica Taiwanica
Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by inherited progressive cerebellar ataxia with or without other associated features. The clinical presentations of these affected SCA patients are very heterogeneous.
Chia-Ju Lee, Chin-San Liu, Society for Neurological Rare Disorders-Taiwan   +2 more
doaj   +1 more source

Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue

Orphanet Journal of Rare Diseases, 2022
Background The genetic landscape of neurodevelopmental disorders is constantly expanding and children with early-onset neurological phenotypes increasingly receive a genetic diagnosis. Nonetheless, the awareness of the chronic course of these conditions,
Elisabetta Indelicato, Michael Zech, Matthias Amprosi, Sylvia Boesch   +3 more
doaj   +1 more source

Improving Mood and Cognitive Symptoms in Huntington's Disease With Cariprazine Treatment

Frontiers in Psychiatry, 2022
In Huntington's disease (HD), the main clinical symptoms include depression, apathy, cognitive deficits, motor deficiencies and involuntary movements. Cognitive, mood and behavioral changes may precede motor symptoms by up to 15 years.
Maria Judit Molnar, Viktor Molnar, Mariann Fedor, Reka Csehi, Karoly Acsai, Beata Borsos, Zoltan Grosz   +6 more
doaj   +1 more source

Modelling stem cell differentiation related processes—A practical overview for biologists

FEBS Letters, EarlyView.
Stem cell differentiation is complex and difficult to control experimentally. This review introduces suitable computational modelling approaches that can support stem cell research, from mechanistic ODE and abstract models to multiscale and deep learning methods.
Ricco Zeegelaar, Xinqi Yan, Lucas F. Jansen Klomp, Stefano Schivo, Janine N. Post   +4 more
wiley   +1 more source

A Pharmacist-Managed Hydroxyurea Prescribing Protocol Improves Uptake and Optimization among Patients with Sickle Cell Disease

Advances in Hematology
Sickle cell disease (SCD) is a common genetic disorder with potentially serious sequelae that can be effectively treated with hydroxyurea. Despite its favorable benefit-risk profile, hydroxyurea uptake in patients with SCD is low.
Cameron Roessner, Trudy Sale, Kelsey Uminski, Dawn Goodyear, Natalia Rydz   +4 more
doaj   +1 more source

Investigating transcription factor dynamics in health and disease using FRAP

FEBS Letters, EarlyView.
FRAP analysis of GFP‐tagged transcription factors reveals how molecular mobility and target engagement change in response to drug treatment. By combining live‐cell imaging, quantitative model fitting, and statistical analysis, this approach uncovers transcription factor dynamics linked to disease mechanisms, providing a powerful framework for ...
Kannan Govindaraj, Carolina Vazquez Garzon, Jose Joaquin Velasco, Janine N. Post   +3 more
wiley   +1 more source

Liver organoids: modelling complexity in homeostasis and disease

FEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

Epigenetic reprogramming of lineage switching in cancer

FEBS Letters, EarlyView.
Cancer cells rarely commit to a single identity. Epigenetic mechanisms and tumor microenvironment cues push epithelial cells toward flexible, hybrid states that can shift into mesenchymal, neuroendocrine, or stem‐like fates, driving metastasis, drug resistance, and tumor heterogeneity. Targeting the epigenetic regulators behind these transitions, using
Ezgi Boyvatlı, Burcu Akman, Ezgi Bağırsakçı, Nese Atabey, Serap Erkek‐Ozhan   +4 more
wiley   +1 more source