Results 211 to 220 of about 255,701 (284)

Epigenetic inflammatory memory and periodontal disease: Mechanisms and clinical significance for comorbidities

open access: yesJournal of Periodontology, EarlyView.
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]

open access: yesEndocrinol Diabetes Metab Case Rep
Fujii A   +12 more
europepmc   +1 more source

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo‐obstruction: A case series

open access: yesJournal of Pediatric Gastroenterology and Nutrition, EarlyView.
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

Autism-associated MDGA1 missense mutations impair distinct facets of central nervous system development [PDF]

open access: gold
Seungjoon Kim   +22 more
openalex   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

open access: yesJPGN Reports, EarlyView.
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]

open access: yesAnn Hematol
Amri Y   +7 more
europepmc   +1 more source

The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations [PDF]

open access: gold
Heather A. Baker   +12 more
openalex   +1 more source

Home - About - Disclaimer - Privacy