Store-operated calcium channels (SOCs) are a major pathway for calcium signaling in
virtually all metozoan cells and serve a wide variety of functions ranging from gene …

Ca2+ release‐activated Ca2+ (CRAC) channels mediate a specific form of Ca2+ influx
called store‐operated Ca2+ entry (SOCE) that contributes to the function of many cell types …

Exomiser is an application that prioritizes genes and variants in next-generation sequencing
(NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian …

Store-operated Ca2+ entry (SOCE) is a ubiquitous Ca2+ signaling pathway that is
evolutionarily conserved across eukaryotes. SOCE is triggered physiologically when the …

Platelet granules are unique among secretory vesicles in both their content and their life
cycle. Platelets contain three major granule types—dense granules, α-granules, and …

The introduction of high throughput sequencing (HTS) techniques greatly improved the
knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different …

Platelets play a major role in hemostasis as ppwell as in many other physiological and
pathological processes. Accordingly, production of about 1011 platelet per day as well as …

Introduction The inability of some seriously and chronically ill individuals to receive a
definitive diagnosis represents an unmet medical need. In 2008, the NIH Undiagnosed …

The discovery of disease‐causing mutations typically requires confirmation of the variant or
gene in multiple unrelated individuals, and a large number of rare genetic diseases remain …

Calcium release-activated calcium (CRAC) channels have been the target of drug discovery
for many years. The identification of STIM and Orai proteins as key components of CRAC …