Force-induced on-rate switching and modulation by mutations in gain-of-function von Willebrand diseases. [PDF]
Kim J, Hudson NE, Springer TA.
europepmc +1 more source
Increased miR‐3163 targets NUDT21, reducing CPSF5 levels and driving APA dysregulation. This results in 3′UTR shortening of CBFB, which stabilizes RUNX1 and promotes smooth muscle proliferation. PTGER3, is also shortened amplifying hypoxia‐induced RVSP. Together, these pathways contribute to vascular remodeling in PH. Image Created in https://BioRender.
Scott D. Collum +17 more
wiley +1 more source
IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura
ABSTRACT Pathogenic variants in IKZF1 (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare IKZF1 variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non‐consanguineous family was clinically monitored; clinical, immunological, and genetic data (exome
Ilia Spivak +7 more
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Abstract A 5‐year‐old male neutered standard poodle, presented with recurrent gingival margin haemorrhage and associated prolongations in prothrombin time and activated partial thromboplastin time, with repeatable demonstration of clinical (bleeding) and laboratory (prothrombin time, activated partial thromboplastin time) resolution with, and relapse ...
Jenny Reeve, Aiden Pang
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A clinically applicable method for early interstitial lung disease detection in incident rheumatoid arthritis cases: integration of protein biomarkers and clinical factors. [PDF]
Gou X +7 more
europepmc +1 more source
ABSTRACT Aim Identifying interactors in sensorimotor processing and neurotransmission remains a current challenge for understanding neural information processing and brain function. Methods To evaluate the role of p11 in sensorimotor processing and excitatory synaptic neurotransmission, neuron‐specific lentivirus‐directed p11 silencing, small ...
Esther Vilches‐Herrando +7 more
wiley +1 more source
Natural variants of von Willebrand factor R1205 causing von Willebrand disease with accelerated von Willebrand factor clearance: In silico docking models and energetics of the interaction with both LRP1 and GpIb A1 domain. [PDF]
Sacco M +6 more
europepmc +1 more source
Avascular Necrosis and Minimal Trauma Fractures in Telomere Biology Disorders
Avascular Necrosis (AVN) and Minimal Trauma Fractures (MTF) cause significant morbidity in people with Telomere Biology Disorders (TBDs). They occur more frequently in young patients and in those with autosomal recessive (AR) or X‐linked recessive (XLR) than in autosomal dominant (AD) genotypes.
Arman M. Niknafs +3 more
wiley +1 more source
Pediatric Essential Thrombocythemia: A Case of a JAK2-Mutated Adolescent With Microvascular Symptoms. [PDF]
Fonseca M +3 more
europepmc +1 more source
ABSTRACT Relapsed/refractory (R/R) mantle cell lymphoma (MCL) remains a therapeutic challenge, particularly in patients with high‐risk features or prior exposure to Bruton's tyrosine kinase inhibitors (BTKis). The advent of T‐cell–redirecting immunotherapies, including chimeric antigen receptor T‐cell (CAR‐T) therapy and bispecific antibodies (BsAbs ...
Santino Caserta +10 more
wiley +1 more source

