The intrinsic electrical characteristics of different types of neurons are shaped by the K+
channels they express. From among the more than 70 different K+ channel genes …

The term congenital neutropenia encompasses a family of neutropenic disorders, both
permanent and intermittent, severe (< 0.5 G/l) or mild (between 0.5-1.5 G/l), which may also …

For almost any given human-tropic virus, bacterium, fungus, or parasite, the clinical outcome
of primary infection is enormously variable, ranging from asymptomatic to lethal infection …

Severe congenital neutropenia (SCN) is a genetically heterogeneous syndrome associated
with mutations of ELANE (ELA2), HAX1, GFI1, WAS, CSF3R or G6PC3. We investigated the …

Congenital Neutropenia (CN) is a heterogeneous bone marrow failure syndrome
characterized by a maturation arrest of myelopoiesis at the level of the promyelocyte …

The discovery of genetic defects causing congenital neutropenia has illuminated
mechanisms controlling differentiation, circulation, and decay of neutrophil granulocytes …

Neutrophil elastase gene (ELANE) mutations are responsible for the majority of cases of
severe congenital neutropenia (CN) and cyclic neutropenia (C y N). We screened CN (n …

HS-1-associated protein X-1 (HAX-1) was identified more than 10 years ago as a novel
protein with ubiquitous tissue expression and a predominantly mitochondrial localization at …

HAX1 is a relatively small, ubiquitously expressed, predominantly mitochondrial, intrinsically
disordered protein. It has been implicated in the regulation of apoptosis, cell migration …

Congenital neutropenia is characterized by chronic neutropenia caused by a constitutional
genetic defect. Epidemiologic investigations of congenital neutropenia aim to define the …