OTULIN-related conditions: Report of a new case and review of the literature using GenIA
A Caballero-Oteyza, L Crisponi, XP Peng, H Wang… - Clinical …, 2024 - Elsevier
OTULIN encodes an eponymous linear deubiquitinase (DUB) essential for controlling
inflammation as a negative regulator of the canonical NF-κB signaling pathway via the …
inflammation as a negative regulator of the canonical NF-κB signaling pathway via the …
CK-666 and CK-869 differentially inhibit Arp2/3 iso-complexes
The inhibitors, CK-666 and CK-869, are widely used to probe the function of Arp2/3 complex
mediated actin nucleation in vitro and in cells. However, in mammals, the Arp2/3 complex …
mediated actin nucleation in vitro and in cells. However, in mammals, the Arp2/3 complex …
[HTML][HTML] HIV-1 Mediated Cortical Actin Disruption Mirrors ARP2/3 Defects Found in Primary T Cell Immunodeficiencies
JM Crater, D Dunn, DF Nixon, RLF O'Brien - bioRxiv, 2023 - ncbi.nlm.nih.gov
During cell movement, cortical actin balances mechanical and osmotic forces to maintain
cell function while providing the scaffold for cell shape. Migrating CD4+ T cells have a …
cell function while providing the scaffold for cell shape. Migrating CD4+ T cells have a …
Analysis of variants in untranslated and promoter regions and breast cancer risk using whole genome sequencing data.
Recent exome-wide association studies have explored the role of coding variants in breast
cancer risk, highlighting the role of rare variants in multiple genes including BRCA1, BRCA2 …
cancer risk, highlighting the role of rare variants in multiple genes including BRCA1, BRCA2 …
Arp2/3 complex-dependent actin regulation protects the survival of tissue-resident mast cells
L Kaltenbach, M Mihlan, S Ulferts, M Müsken… - bioRxiv, 2024 - biorxiv.org
Actin network dynamics are pivotal in governing the motility and effector functions of immune
cells. The Arp2/3 complex is a key regulator of actin filament branching, with mutations in its …
cells. The Arp2/3 complex is a key regulator of actin filament branching, with mutations in its …
Branched actin networks in innate immune cells mediate host microbiota homeostasis.
LR Vasconcellos, SCM Huang, A Suarez-Bonnet… - bioRxiv, 2024 - biorxiv.org
Assembly of branched actin networks, driven by the Arp2/3 complex are essential for the
function and integrity of the immune system. Patients with loss-of-function mutations in the …
function and integrity of the immune system. Patients with loss-of-function mutations in the …
[PDF][PDF] Development of a novel cellular model to understand genotype-phenotype correlations for Polycystic Kidney Disease patients exploiting CRISPR/Cas9
M Migliorero - 2024 - iris.unito.it
Abstract Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common
single-gene disorder leading to kidney failure. Almost 80% of cases of ADPKD are attributed …
single-gene disorder leading to kidney failure. Almost 80% of cases of ADPKD are attributed …