Results 61 to 70 of about 316,804 (365)

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32 [PDF]

, 2021
Immune dysregulation diseases are characterized by heterogeneous clinical manifestations and may have severe disease courses. The identification of the genetic causes of these diseases therefore has critical clinical implications.
Garcia de Otezya, Andres Caballero, Gentz, Magdalena, Grimbacher, Bodo, Lehmkuhl, Peter, Schulze-Koops, Hendrik, Skapenko, Alla   +5 more
core   +1 more source

The 4th NextGen therapies of SJIA and MAS, part 4: it is time for IL-18 based trials in systemic juvenile idiopathic arthritis?

Pediatric Rheumatology Online Journal
Since IL-18 has recently emerged as a biomarker associated with refractory disease course in SJIA, the focus of the discussion was the feasibility of the biomarker-driven drug development to SJIA. Overall, there was broad agreement on the conclusion that
Scott W. Canna, Fabrizio De Benedetti
doaj   +1 more source

Perforin gene transfer into hematopoietic stem cells improves immune dysregulation in murine models of perforin deficiency [PDF]

, 2014
Defects in perforin lead to the failure of T and NK cell cytotoxicity, hypercytokinemia, and the immune dysregulatory condition known as familial hemophagocytic lymphohistiocytosis (FHL).
Alonso-Ferrero, ME, Arumugam, P, Baum, C, Blundell, MP, Carmo, M, Gaspar, HB, Hontz, AE, Jordan, MB, Malik, P, Montiel-Equihua, CA, Risma, KA, Schambach, A, Thrasher, AJ, Tiwari, S   +13 more
core   +2 more sources

Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia

FEBS Letters, EarlyView.
This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley   +1 more source

Immune dysregulation in primary immune thrombocytopenia patients [PDF]

Hematology, 2018
To explore the immunological abnormalities in patients with primary immune thrombocytopenia (ITP), and analyze its relationship with treatment.Proportion of different immune cell subsets were detected in the peripheral blood of 124 ITP patients at different time points and 45 normal controls by flow cytometry.
Lili Tao, Zhimin Zhai, Fan Wu, Qianshan Tao, Jiyu Wang, Yuanyuan Shen, Can Wu, Xuanxuan Xu, Jeffrey T. Wang, Qiuye Zhang, Jiakui Zhang, Yanjie Ruan, Yiping Wang, Yingwei Li   +13 more
openaire   +3 more sources

Ablation of LRP6 in alpha‐smooth muscle actin‐expressing cells abrogates lung inflammation and fibrosis upon bleomycin‐induced lung injury

FEBS Letters, EarlyView.
Low‐density lipoprotein receptor‐related protein 6 (LRP6) is a key receptor for the Wnt antagonist Dickkopf1 (DKK1). DKK1 protein expression is induced in a bleomycin (BLM)‐induced lung injury model. We show that DKK1 induces proinflammatory and profibrotic genes in lung fibroblasts.
Eun‐Ah Sung, Mikhail G. Dozmorov, SuJeong Song, Theingi Aung, Min Hee Park, Patricia J. Sime, Wook‐Jin Chae   +6 more
wiley   +1 more source

GPA-Tree: Statistical Approach for Functional-Annotation-Tree-Guided Prioritization of GWAS Results [PDF]

arXiv, 2021
Motivation: In spite of great success of genome-wide association studies (GWAS), multiple challenges still remain. First, complex traits are often associated with many single nucleotide polymorphisms (SNPs), each with small or moderate effect sizes. Second, our understanding of the functional mechanisms through which genetic variants are associated ...
arxiv  

Dynamic Akt/mTOR Signaling in Children with Autism Spectrum Disorder. [PDF]

, 2017
Autism spectrum disorder (ASD) is a behaviorally defined disorder affecting 1 in 68 children. Currently, there is no known cause for the majority of ASD cases nor are there physiological diagnostic tools or biomarkers to aid behavioral diagnosis.
Ashwood, Paul, Onore, Charity, Van de Water, Judy, Yang, Houa   +3 more
core   +1 more source

The multiple roles of the NlpC_P60 peptidase family in mycobacteria – an underexplored target for antimicrobial drug discovery

FEBS Letters, EarlyView.
The NlpC_P60 superfamily of peptidases is recognised by its key role in bacterial cell wall homeostasis. Recently, studies have also described the involvement of NlpC_P60‐like enzymes in bacterial competitive mechanisms and pathogenesis across several lineages.
Catharina dos Santos Silva, Marcio Vinicius Bertacine Dias   +1 more
wiley   +1 more source

Soft Phenotyping for Sepsis via EHR Time-aware Soft Clustering [PDF]

arXiv, 2023
Objective: Sepsis is one of the most serious hospital conditions associated with high mortality. Sepsis is the result of a dysregulated immune response to infection that can lead to multiple organ dysfunction and death. Due to the wide variability in the causes of sepsis, clinical presentation, and the recovery trajectories, identifying sepsis sub ...
arxiv