Results 191 to 200 of about 13,095,395 (361)
Preliminary Exploration on the Establishment of the Department of Rare Diseases at Peking Union Medical College Hospital [PDF]
The establishment of the Department of Rare Diseases at Peking Union Medical College Hospital (PUMCH) is a landmark in the disciplinary development of the rare diseases. The establishment of the department will booster the prominence of the influence and
ZHANG Shuyang, SHEN Min
core +1 more source
BMC CancerBackground Mutations in the BRCA1 and BRCA2 genes play a pivotal role in the pathogenesis of breast, ovarian, prostate, pancreatic, and several other cancers.
Hong-Thanh Nguyen +14 more
doaj +1 more source
FEBS Open Bio, EarlyView.The crystal structure of Borrelia burgdorferi nicotinamidase (PncA/BBE22) reveals the correct full‐length protein initiated from a non‐canonical AUU start codon. The structure validates previous biochemical findings and resolves a long‐standing annotation error, demonstrating that the truncated database sequence is structurally incompatible with the ...
Kalvis Brangulis
wiley +1 more source
The Progress of Research on Data Sharing of Rare Diseases Driven by Digital Intelligence [PDF]
In recent years, the rapid development of digital intelligence has provided a new path for rare disease data sharing and injected new power into the progress of research of rare diseases.
GU Yiwu +4 more
core +1 more source
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
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
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
Care for Rare: Spotlight on Rare Diseases [PDF]
Trends in Pharmacological Sciences, 2019 openaire +2 more sources
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