Buscar
Mostrando ítems 1-4 de 4
Artículo
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the Literature
(SPRINGER, 2022)
Introduction Since the frst description of gain of function (GOF) mutations in signal transducer and activator of transcrip tion (STAT) 1, more than 300 patients have been described with a broad clinical phenotype including ...
Artículo
Affordable three-dimensional printed heart models
(Frontiers Media SA, 2021)
This is a 7-years single institution study on low-cost cardiac three-dimensional (3D) printing based on the use of free open-source programs and affordable printers and materials. The process of 3D printing is based on ...
Artículo
Ex vivo efect of JAK inhibition on JAK‑STAT1 pathway hyperactivation in patients with dominant‑negative STAT3 mutations
(SPRINGER, 2022)
Purpose STAT1 gain-of-function (GOF) and dominant-negative (DN) STAT3 syndromes share clinical manifestations includ ing infectious and infammatory manifestations. Targeted treatment with Janus-kinase (JAK) inhibitors shows ...
Artículo
Gene signatures of early response to anti-TNF drugs in pediatric inflammatory bowel disease
(MDPI, 2020)
Around a 20–30% of inflammatory bowel disease (IBD) patients are diagnosed before they are 18 years old. Anti-TNF drugs can induce and maintain remission in IBD, however, up to 30% of patients do not respond. The aim of ...