Accès ouvert
2025
article
OpenAlex
Noa Tal, Liran Baram, Arne Gehlhaar, Weihong Gu et autres
BACKGROUND: Mutations in RELA, a key component of NF-κB signaling, are associated with dysregulated immune responses and inflammatory disorders. While immunodeficiency phenotypes associated with RELA haploinsufficiency have been reported, gastrointestinal manifestations remain poorly described. This study aimed to characterize the clinical, genomic, …
il, de, us, nl
(code pays fourni par la source)
Accès ouvert
2023
conference-abstract
OpenAlex
Augusto Faria Andrade, Danai Georgia Topouza, Michael McNicholas, Eduardo Gonzalez Santiago et autres
Abstract Pediatric high-grade gliomas pHGG are lethal and frequently bear missense mutations in histone H3, which drive tumorigenesis by altering the epigenome and cell fate/differentiation. While previous studies showed intrinsic contingencies associated with tumor development, limited information exists on the tumor microenvironment …
ca, gb, us
(code pays fourni par la source)
Accès ouvert
2023
preprint
OpenAlex
Arne Gehlhaar, Dror S. Shouval, Eduardo Gonzalez Santiago, Galina Ling et autres
Abstract Glycogen Storage Disease type 1b (GSD1b) is a rare disease manifesting as hypoglycemia, recurrent infections and neutropenia, resulting from deleterious mutations in the SLC37A4 gene encoding the glucose-6-phosphate transporter. The susceptibility to infections is thought to be attributed not only to …
us
(code pays fourni par la source)
2013
article
OpenAlex
Frank Arendt, Arne Gehlhaar
The share of Inland Waterway Transport (IWT) in European transport is still rather limited. Within the RISING project it was investigated how IWT could be better exploited than today by using River Information Services (RIS) for logistics purposes. RISING conducted a set …