The glomerular basement membrane (GBM) is a specialized form of basement membrane
that has a major role in the maintenance of the glomerular filtration barrier. Like all basement …

Despite common wisdom, the role of essential hypertension in the etiopathogenesis of
ESRD has been controversial. Two recently published studies demonstrated a strong …

Abstract MYH9‐related disease (MYH9‐RD) is a rare autosomal‐dominant disorder caused
by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC‐IIA) …

Deregulation of myosin II-based contractility contributes to the pathogenesis of human
diseases, such as cancer, which underscores the necessity for tight spatial and temporal …

A fundamental property of platelets is their ability to transmit cytoskeletal contractile forces to
extracellular matrices. While the importance of the platelet contractile mechanism in …

Background The RUNX1 transcription factor gene is frequently mutated in sporadic myeloid
and lymphoid leukemia through translocation, point mutation or amplification. It is also …

We report a 3-generation pedigree with 5 individuals affected with a dominantly inherited
macrothrombocytopenia. All 5 carry 2 nonsynonymous mutations resulting in a D723H …

Background Fetchner syndrome (FTNS, OMIM 153640) is an autosomal dominant disorder
characterized by the association of macrothrombocytopaenia, leukocyte inclusions …

MYH9 disorders are autosomal dominant macrothrombocytopenias with leukocyte inclusion
bodies. Single point mutations in the protein‐coding sequence of the MYH9 gene are the …

Inherited platelet disorders are a rare, but probably underdiagnosed, cause of symptomatic
bleeding. They are characterized by abnormalities of platelet number (inherited …