Results 171 to 180 of about 55,967 (276)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Acute Kidney Injury in Immune-Mediated Thrombotic Thrombocytopenic Purpura - Solving the Puzzle? [PDF]

open access: yesKidney Int Rep
Schneider J   +4 more
europepmc   +1 more source

ROC‐325 Attenuates Hypoxia‐Induced Pulmonary Hypertension Through Dual Inhibition of Autophagy and Hypoxia‐Inducible Factor 2α Signaling

open access: yesMedComm – Future Medicine, Volume 5, Issue 1, March 2026.
In hypoxia‐induced pulmonary hypertension, endothelial HIF‐2α accumulation and autophagic activation drive vascular remodeling. We demonstrate that the novel lysosomal inhibitor ROC‐325 simultaneously attenuates this pathogenic autophagy and promotes HIF‐2α degradation.
Changlei Bao   +18 more
wiley   +1 more source

Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations. [PDF]

open access: yesRes Pract Thromb Haemost
Seidizadeh O   +7 more
europepmc   +1 more source

Ascitic fluid concentrations of fibronectin and cholesterol [PDF]

open access: yes, 1990
Gerbes, Alexander L.   +3 more
core  

Sympathetic innervation of human cervical lymph nodes: A potential neuroimmunomodulatory target for the treatment of T‐cell‐driven autoimmune diseases like MS?

open access: yesJournal of Anatomy, Volume 248, Issue 3, Page 439-448, March 2026.
Recent animal studies have shown that the sympathetic nervous system (SNS) prevents disease activity of EAE (Experimental autoimmune encephalomyelitis, animal model of Multiple Sclerosis [MS]), presumably through adrenergic activity in the deep cervical lymph nodes (DCLNs).
Christopher Kremer   +4 more
wiley   +1 more source

Association of Organ Preservation Methods With Von Willebrand Factor Upregulation in Microvascular Endothelial Cells Posttransplantation: Ex Vivo Lung Perfusion and Static Cold Storage. [PDF]

open access: yesTransplant Direct
Alavi P   +10 more
europepmc   +1 more source

The Role of Immune Infiltration and Oxidative Stress in the Progression of Cerebral Cavernous Malformation

open access: yesBrain and Behavior, Volume 16, Issue 2, February 2026.
Mechanism of rupture hemorrhage in cerebral cavernous malformations. Environmental and immune factors promote the progression of lesions and induce the risk of abnormal formation or rupture of cerebrovascular vessels. Abstract Purpose of Review To review how the immune microenvironment and oxidative stress modulate the initiation, maturation, and ...
Xuesai Zhu   +3 more
wiley   +1 more source

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