Autoimmune and autoinflammatory manifestations in inborn errors of immunity
M Kačar, G Markelj, T Avčin - Current Opinion in Allergy and …, 2022 - journals.lww.com
Dysregulated immunity has been associated with IEI since their discovery. Recently, large
concerted efforts have shown how common these complications actually are while providing …
concerted efforts have shown how common these complications actually are while providing …
Neutrophil motility is regulated by both cell intrinsic and endothelial cell ARPC1B
A Peterson, D Bennin, M Lasarev… - Journal of Cell …, 2024 - journals.biologists.com
Neutrophil-directed motility is necessary for host defense, but its dysregulation can also
cause collateral tissue damage. Actinopathies are monogenic disorders that affect the actin …
cause collateral tissue damage. Actinopathies are monogenic disorders that affect the actin …
[HTML][HTML] Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
CJ Nunes-Santos, HS Kuehn, B Boast… - Nature …, 2023 - nature.com
We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3
actin nucleator complex, in two unrelated patients presenting with recurrent and severe …
actin nucleator complex, in two unrelated patients presenting with recurrent and severe …
[HTML][HTML] ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality
E Sindram, A Caballero-Oteyza… - Disease models & …, 2023 - journals.biologists.com
The Arp2/3 complex drives the formation of branched actin networks that are essential for
many cellular processes. In humans, the ARPC5 subunit of the Arp2/3 complex is encoded …
many cellular processes. In humans, the ARPC5 subunit of the Arp2/3 complex is encoded …
Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature
E Vásquez-Echeverri… - The Journal of Allergy …, 2023 - Elsevier
Background Hereditary actin-related protein 2/3 complex subunit 1B deficiency is
characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy …
characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy …
[HTML][HTML] Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is a recently described
inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized …
inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized …
[HTML][HTML] Bone marrow mesenchymal/fibroblastic stromal cells induce a distinctive EMT-like phenotype in AML cells
N Nojszewska, O Idilli, D Sarkar, Z Ahouiyek… - European Journal of …, 2023 - Elsevier
The development of epithelial-to-mesenchymal transition (EMT) like features is emerging as
a critical factor involved in the pathogenesis of acute myeloid leukaemia (AML). However …
a critical factor involved in the pathogenesis of acute myeloid leukaemia (AML). However …
Population genetic analysis based on the polymorphisms mediated by transposons in the genomes of pig
W Zong, R Zhao, X Wang, C Zhou, J Wang… - DNA …, 2024 - academic.oup.com
Transposable elements (TEs) mobility is capable of generating a large number of structural
variants (SVs), which can have considerable potential as molecular markers for genetic …
variants (SVs), which can have considerable potential as molecular markers for genetic …
[HTML][HTML] Spatial Transcriptomics Analysis: Maternal Obesity Impairs Myogenic Cell Migration and Differentiation during Embryonic Limb Development
Y Gao, MN Hossain, L Zhao, JM Deavila… - International Journal of …, 2024 - mdpi.com
Limb muscle is responsible for physical activities and myogenic cell migration during
embryogenesis is indispensable for limb muscle formation. Maternal obesity (MO) impairs …
embryogenesis is indispensable for limb muscle formation. Maternal obesity (MO) impairs …
[HTML][HTML] WAVE2 Regulates Actin-Dependent Processes Induced by the B Cell Antigen Receptor and Integrins
A Bedi, K Choi, C Keane, M Bolger-Munro… - Cells, 2023 - mdpi.com
B cell antigen receptor (BCR) signaling induces actin cytoskeleton remodeling by
stimulating actin severing, actin polymerization, and the nucleation of branched actin …
stimulating actin severing, actin polymerization, and the nucleation of branched actin …