Hemophagocytic lymphohistiocytosis: A disorder of T cell activation, immune regulation, and distinctive immunopathology
MB Jordan - Immunological Reviews, 2024 - Wiley Online Library
Hemophagocytic lymphohistiocytosis (HLH) is a disorder that has been recognized since the
middle of the last century. In recent decades, increasing understanding of the genetic roots …
middle of the last century. In recent decades, increasing understanding of the genetic roots …
Genetic aetiologies of acute liver failure
R Hegarty, RJ Thompson - Journal of Inherited Metabolic …, 2024 - Wiley Online Library
Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating
consequences where definitive treatment is by emergency liver transplantation. Establishing …
consequences where definitive treatment is by emergency liver transplantation. Establishing …
Modulation of NBAS-related functions in the early response to SARS-CoV-2 infection
V Granata, I Pagani, E Morenghi… - International Journal of …, 2023 - mdpi.com
Upon infection, severe acute respiratory syndrome—coronavirus 2 (SARS-CoV-2) is
predicted to interact with diverse cellular functions, such as the nonsense-mediated decay …
predicted to interact with diverse cellular functions, such as the nonsense-mediated decay …
circRNAs as prognostic markers in pediatric acute myeloid leukemia
H Sun, Y Xie, X Wu, W Hu, X Chen, K Wu, H Wang… - Cancer Letters, 2024 - Elsevier
Circular RNAs (circRNAs) arise from precursor mRNA processing through back-splicing and
have been increasingly recognized for their functions in various cancers including acute …
have been increasingly recognized for their functions in various cancers including acute …
[HTML][HTML] Identification of nonsense variants in the genomes of 15 Murciano-Granadina bucks and analysis of their segregation in parent-offspring trios
Nonsense variants can inactivate gene function by causing the synthesis of truncated
proteins or by inducing nonsense mediated decay of messenger RNAs. The occurrence of …
proteins or by inducing nonsense mediated decay of messenger RNAs. The occurrence of …
Comprehensive mapping of immune perturbations associated with secondary hemophagocytic lymphohistiocytosis
Y Chen, H Deng, R Zhou, X Jiang… - Journal of Leukocyte …, 2024 - academic.oup.com
Secondary hemophagocytic lymphohistiocytosis (sHLH) is a hyperinflammatory syndrome
characterized by immune disorders. It is imperative to elucidate the immunophenotypic …
characterized by immune disorders. It is imperative to elucidate the immunophenotypic …
A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene
J Ji, M Yang, JJ Jia, Q Wu, R Cong, H Cui… - Human Genome …, 2023 - nature.com
Mutations in the neuroblastoma amplified sequence (NBAS) gene correlate with infantile
acute liver failure (ALF). Herein, we identified a novel NBAS mutation in a female infant …
acute liver failure (ALF). Herein, we identified a novel NBAS mutation in a female infant …
Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype
L Zhozhikov, A Sukhomyasova, E Gurinova… - Clinical …, 2023 - Wiley Online Library
Since the first report of SOPH syndrome among the Yakut population in 2010, new clinical
data of SOPH‐like conditions continue to appear. We expand the phenotypic spectrum of …
data of SOPH‐like conditions continue to appear. We expand the phenotypic spectrum of …
[HTML][HTML] Hemophagocytic Lymphohistiocytosis in Association With Neuroblastoma Amplified Sequence (NBAS) Gene Variants: A Report of a Rare Case
S Gawhale, S Tambolkar, P Tamhankar, BS Tandur… - Cureus, 2024 - pmc.ncbi.nlm.nih.gov
Hemophagocytic lymphohistiocytosis (HLH) is a multisystem involvement,
hyperinflammatory state with rapid progression and a poor outcome. However, HLH may …
hyperinflammatory state with rapid progression and a poor outcome. However, HLH may …
The FKBPL-based therapeutic peptide, AD-01, protects the endothelium from hypoxia-induced damage by stabilizing hypoxia inducible factor-α and inflammation
Aims: FK506-binding protein like (FKBPL) and its therapeutic peptide mimetic, AD-01, are
crucial negative regulators of angiogenesis, yet the underlying mechanisms involved in …
crucial negative regulators of angiogenesis, yet the underlying mechanisms involved in …