Pathologic thrombosis is a major cause of mortality. Hemolytic-uremic syndrome (HUS)
features episodes of small-vessel thrombosis resulting in microangiopathic hemolytic anemia, …

Spleen tyrosine kinase (SYK) is a critical immune signaling molecule and therapeutic target.
We identified damaging monoallelic SYK variants in six patients with immune deficiency, …

Although genetic testing is increasingly used in clinical nephrology, a large number of
patients with congenital abnormalities of the kidney and urinary tract (CAKUT) remain …

In the past 20 years, we have witnessed tremendous advances in our ability to diagnose
and treat genetic diseases of the kidney caused by complement dysregulation. Staggering …

The recent discovery of mutations in the gene encoding diacylglycerol kinase ε (DGKE) identified
a novel pathophysiologic mechanism leading to HUS and/or MPGN. We report ten new …

CDC25B is one of the three human phosphatases that are involved in the control of the
activation of cyclin-dependent kinases. CDC25B participates in regulating entry into mitosis and …

Results Whole-exome sequencing analysis with conventional variant filtering parameters
did not reveal any obvious candidate mutation in the first family. The report of aHUS-…

The various forms of Fanconi renotubular syndromes (FRTS) offer significant challenges for
clinicians and present unique opportunities for scientists who study proximal tubule …

Resistance to change is often reported in autism and may arise from an inability to predict
events in uncertain contexts. Using EEG recorded in 12 adults with autism and age-matched …

In mammals there are at least 10 isoforms of diacylglycerol kinases (DGK). All catalyze the
phosphorylation of diacylglycerol (DAG) to phosphatidic acid (PA). Among DGK isoforms, …