Results 131 to 140 of about 4,553,133 (313)
Studying Epidemiological Properties Of Rare Diseases
, 2021 Introduction: A type of disease where a small percentage of the population has been affected are called rare diseases. The rare diseases subject is full of misunderstandings.
Alam, Jamal
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Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes
FEBS Open Bio, EarlyView.Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard +12 more
wiley +1 more source
FEBS Open Bio, EarlyView.Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill +6 more
wiley +1 more source
Evolution‐guided yeast complementation reveals functional differences in human PSPH variants
FEBS Open Bio, EarlyView.Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez +6 more
wiley +1 more source
Communications MedicineBackground Development of therapies for CLN3 disease, a rare pediatric lysosomal storage disorder, has been hindered by the lack of etiological insights and translatable biomarkers to clinics. Methods We used a deep multi-omics approach to discover blood-
Mitchell J. Rechtzigel +11 more
doaj +1 more source
A rare presentation of a rare disease
Egyptian Journal of Bronchology, 2014 Castleman's disease, a rare condition of uncertain etiology, is associated with lymphoproliferation. It is histologically and prognostically distinct from malignant lymph node hyperplasia. We report a case of a female patient who presented with interstitial lung disease and mediastinal lymphadenopathy, not responding to usual treatment.
openaire +1 more source
In silico and in vitro exploration of a tyrosinase for biocatalytic production of catechols
FEBS Open Bio, EarlyView.Tyrosinase from Ralstonia pseudosolanacearum is a promising biocatalyst for producing valuable catechols from monophenol substrates. This tyrosinase is uniquely suited to this due to its high monophenolase : diphenolase ratio. We combined in silico docking and in vivo kinetic characterisation of this tyrosinase with 11 industrially relevant monophenols,
James Britton +6 more
wiley +1 more source
FEBS Open Bio, EarlyView.Research is strongest when conducted alongside patients, not just about them. Patient research organizations help integrate patient perspectives into research priorities, study design, and scientific meetings, leading to meaningful patient outcomes and development of relevant therapies.
Jenica H. Kakadia +9 more
wiley +1 more source
GelMA‐based 3D spheroids recapitulate transcriptomic and functional hallmarks of myeloid sarcoma
FEBS Open Bio, EarlyView.GelMA 5% hydrogels support the formation of myeloid leukemia spheroids that recapitulate MS‐specific features, including G1 arrest, apoptosis, and ECM‐driven transcriptomic reprogramming. The 3D model mimicked soft‐tissue‐like stiffness and oxygen conditions, and transcriptomic convergence with primary MS samples confirmed its utility as a preclinical ...
Nicolas Germain +11 more
wiley +1 more source
RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases
, 2014 Over the last decade the European Union (EU) has been coordinating actions addressing various aspects of rare diseases and has funded several cross-border research projects.
Jan Manson +46 more
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