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 ...

Capillary leak syndrome (CLS) is a critical complication of allogeneic hematopoietic stem cell transplantation (allo-HSCT), manifested by weight gain, generalized edema, hypotension, and ...