Introduction: Podocytopathies are a uniquely renal disease syndrome, in which direct or indirect podocyte injury leads to proteinuria or nephrotic syndrome ... to clarify the role of autophagy in the ...

This study addresses fundamental questions surrounding otitis media effusion in Down syndrome, identifying DYRK1A as a key gene involved in the condition. The findings are compelling, highlighting ...

In another example of the effect of modifier genes, Schiefermeier et al [45] tried to delineate why some patients have later-onset neurologic as well as hepatic symptoms by examining the potential ...

Marfan syndrome (MFS) is a heritable multisystemic disorder with a spectrum of clinical manifestations primarily linked to variants in the Fibrillin-1 ...

In a retrospective review of the FDA's Adverse Event Reporting System, which collected data on tenofovir-associated Fanconi syndrome from 2001 to 2006, 164 individuals met the definition for ...

Expert Rev Cardiovasc Ther. 2008;6(3):391-409. Phosphatidic acid phosphatase/phosphohydrolase (PAP) is an enzyme that catalyzes the conversion of phosphatidic acid to ...

If the loss of kidney function is severe, proteinuria may be a part of a more serious condition called nephrotic syndrome. This causes fluid buildup and dyslipidemia (unhealthy levels of cholesterol ...