Abstract Historically, immunological memory was considered an exclusive feature of adaptive immunity. However, innate immune cells have recently been shown to record and maintain epigenetically imprinted memory of earlier infectious or inflammatory challenges.
George Hajishengallis
wiley +1 more source
Early-onset diabetes with low utilization of lipid as an energy source carrying a rare missense mutation in the CEL gene. [PDF]
Fujii A +12 more
europepmc +1 more source
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]
Connolly, Anne M +4 more
core +2 more sources
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson +8 more
wiley +1 more source
A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review. [PDF]
Yang W, Zhou J, Si N, Zhang X.
europepmc +1 more source
Autism-associated MDGA1 missense mutations impair distinct facets of central nervous system development [PDF]
Seungjoon Kim +22 more
openalex +1 more source
Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno +7 more
wiley +1 more source
Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families. [PDF]
Amri Y +7 more
europepmc +1 more source
The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations [PDF]
Heather A. Baker +12 more
openalex +1 more source

