The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China. [PDF]
Lai G+5 more
europepmc +1 more source
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez+17 more
wiley +1 more source
The Role of Patient Organizations in Shaping Research, Health Policies, and Health Services for Rare Genetic Diseases: The Dutch Experience. [PDF]
Poortman Y, Ens-Dokkum M, Nippert I.
europepmc +1 more source
Understanding and measuring mechanical signals in the tumor stroma
This review discusses cancer‐associated fibroblast subtypes and their functions, particularly in relation to extracellular matrix production, as well as the development of 3D models to study tumor stroma mechanics in vitro. Several quantitative techniques to measure tissue mechanical properties are also described, to emphasize the diagnostic and ...
Fàtima de la Jara Ortiz+3 more
wiley +1 more source
CTGCT, Centre of Excellence for the Technologies of Gene and Cell Therapy: Collaborative translation of scientific discoveries into advanced treatments for neurological rare genetic diseases and cancer. [PDF]
Marolt Presen D+9 more
europepmc +1 more source
We provide a step‐by‐step guide for producing E140 antigen fragments from Plasmodium berghei (Pb1) and Plasmodium vivax (Pv1). Pb1/Pv1 are expressed in E. coli, solubilized by freeze–thawing, refolded by slow dilution, purified by affinity chromatography (IMAC), then concentrated and subjected to quality control.
Rodolfo Ferreira Marques+5 more
wiley +1 more source
High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases. [PDF]
Zeng Y+25 more
europepmc +1 more source
HDAC4 regulates apoptosis in Acan‐CreERT2;HDAC4d/d mice with osteoarthritis by downregulating ATF4
Using the AcanCreERT2;HDAC4fl/fl genetic mouse model, we further investigated the role of histone deacetylase 4 (HDAC4) in chondrocyte apoptosis. We found that knocking down HDAC4 may be associated with chondrocyte apoptosis by upregulating the activating transcription factor 4 (ATF4)/CAAT/enhancer binding protein homologous (CHOP) signaling pathway ...
Jingrui Huang+11 more
wiley +1 more source