Results 131 to 140 of about 1,622,414 (348)

Navigating new norms: a systematic review of factors for the development of effective digital tools in higher education

FEBS Open Bio, EarlyView.
What factors make for an effective digital learning tool in Higher Education? This systematic review identifies elements of a digital tool that published examples reveal to be features of an engaging and impactful digital tool. A systematic literature search yielded 25 research papers for analysis.
Akmal Arzeman, Jessica Haines, Connie Pritchard, Stephen Rutherford, Nigel Francis   +4 more
wiley   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Medical education gaps in the diagnosis of Fabry disease in the UK: Descriptive findings from a patient survey and specialists’ interviews

Rare
Background: Early diagnosis of Fabry disease (FD) is crucial to initiate treatment and mitigate disease progression but is hindered by the rarity and non-specific symptoms of disease.
Stuart Gaffney, Kamran Iqbal, Phil Dawson, Thomas Kenny   +3 more
doaj   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Malignant Melanoma of Nose and Paranasal Sinuses: 2 Case Reports [PDF]

, 2010
Malignant melanoma is one of the rare and highly aggressive diseases of the sinonasal cavity. High index of suspicion is required for diagnosis as the patient usually presents with non specific signs and symptoms.
Bhagat, S, Bist, SS, Gupta, N, Singh, R, Varshney, S   +4 more
core   +1 more source

KLK7 overexpression promotes an aggressive phenotype and facilitates peritoneal dissemination in colorectal cancer cells

FEBS Open Bio, EarlyView.
KLK7, a tissue kallikrein‐related peptidase, is elevated in advanced colorectal cancer and associated with shorter survival. High KLK7 levels in ascites correlate with peritoneal metastasis. In mice, KLK7 overexpression increases metastasis. In vitro, KLK7 enhances cancer cell proliferation, migration, adhesion, and spheroid formation, driving ...
Yosr Z. Haffani, Tobias Dreyer, Meriem Naim, Rea Lo Dico, Natalia A. Ignatenko, Viktor Magdolen, Dalila Darmoul   +6 more
wiley   +1 more source

The ethical framework for performing research with rare inherited neurometabolic disease patients [PDF]

, 2017
Viviana Giannuzzi, Hugo Devlieger, Lucia Margari, Viveca Odlind, Lamis Ragab, Cinzia Maria Bellettato, Francesca D’Avanzo, Christina Lampe, Linda Cassis, Elisenda Cortès‐Saladelafont, Àngels García Cazorla, Ivo Barić, Ljerka Cvitanović-Šojat, Ksenija Fumić, Christine í Dali, Franco Bartoloni, Fedele Bonifazi, Maurizio Scarpa, Adriana Ceci   +18 more
openalex   +1 more source

Drugs for exceptionally rare diseases: a commentary on Hughes et al [PDF]

Recently in this journal, Hughes and colleagues discussed special funding status to ultra-orphan drugs. They concluded that there should be a uniform policy for the provision of orphan drugs across Europe; that complete restriction was impractical, and ...
Claxton, K., McCabe, C., Raftery, J., Tsuchiya, A.   +3 more
core  

Natural Products as Geroprotective Modulators in Diabetic Nephropathy: A Mechanistic Framework Integrating Aging Hallmarks and the AMPK–SIRT1–Nrf2 Axis

Aging and Cancer, EarlyView.
Natural products target the aging kidney in diabetic nephropathy by restoring the AMPK–SIRT1–Nrf2 axis, reducing oxidative stress, inflammation, fibrosis, and cellular senescence while enhancing mitochondrial biogenesis and antioxidant defenses.
Sherif Hamidu, Latif Adams, Eunice Ampem‐Danso, Justice Kumi, Abigail Aning, Fatima Hamidu, Mustapha Abdul Mumin Mohammed, Ayuba Nii Darku Ankrah, Seth Kwabena Amponsah   +8 more
wiley   +1 more source

Tracking Motor Progression and Device‐Aided Therapy Eligibility in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterise the progression of motor symptoms and identify eligibility for device‐aided therapies in Parkinson's disease, using both the 5‐2‐1 criteria and a refined clinical definition, while examining differences across genetic subgroups.
David Ledingham, Sahana Sathyanarayana, Charlotte B. Stewart, Robyn Iredale, Victoria Foster, Debra Galley, Mark Baker, Nicola Pavese   +7 more
wiley   +1 more source