Results 161 to 170 of about 38,783 (308)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source
Angewandte Chemie, EarlyView.We develop an ultrasensitive, high‐accuracy multiplex protein detection platform integrating high‐throughput single‐molecule protein detection with proximity ligation. Using paired DNA barcodes, this platform breaks the digital immunoassay multiplexing ceiling imposed by cross‐reactivity and fluorescence spectral overlap, providing a broadly accessible
Chi‐Chia Wang, Emily Dorsey, Connie Wu
wiley +2 more sources
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Genetic mosaicism in adult mice of quadriparental lineage.
, 1965 GENETIC MOSAICISM IN ADULT MICE OF QUADRIPARENTAL LINEAGE Genetic Mosaicism in Adult Mice of Quadriparental Lineage (148) (-
Mintz, Beatrice, Mintz, B
core
Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source
Plant Virus Immunotherapy for HPV‐Associated Oropharyngeal Squamous Cell Carcinoma
Advanced NanoBiomed Research, EarlyView.Cowpea mosaic virus (CPMV) nanoparticles are safe and potent cancer immunotherapy candidates with strong immunomodulatory activity. CPMV activates innate immunity, which in turn drives adaptive immune responses and promotes durable, systemic antitumor effects.
Jessica Fernanda Affonso de Oliveira +7 more
wiley +1 more source
End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes. [PDF]
J Med GenetDamen L +9 more
europepmc +1 more source
Nanodiamonds as Bioactive Platforms to Modulate Microbial, Mammalian, and Vertebrate Systems
Advanced NanoBiomed Research, EarlyView.Nanodiamonds (NDs) are biocompatible and antibacterial nanomaterials that support mammalian cell growth while inhibiting bacterial pathogens. NDs showed strong antibacterial activity, with Escherichia coli being more sensitive than Staphylococcus aureus. At 10 mg/mL, both bacteria exhibited ~8% viability.
Aaqil Rifai +6 more
wiley +1 more source