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Activating signaling mutations are common in acute leukemia with KMT2A (previously MLL) rearrangements (KMT2A-R). These mutations are often subclonal and their biological impact remains unclear. Using a retroviral acute myeloid mouse leukemia model, we demonstrate that FLT3 ITD, FLT3 N676K, and NRAS G12D accelerate KMT2A-MLLT3 leukemia onset. Further, also subclonal FLT3 N676K mutations accelerate

Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafnes

Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all

T-1-family conotoxins belong to the T-superfamily and are composed of 10-17 amino acids. They share a common cysteine framework and disulfide connectivity and exhibit unusual posttranslational modifications, such as tryptophan bromination, glutamic acid carboxylation, and threonine glycosylation. We have isolated and characterized a novel peptide, Mo1274, containing 11 amino acids, that shows the

BACKGROUND: Bacterial surfaces are complex systems, constructed from membranes, peptidoglycan and, importantly, proteins. The proteins play crucial roles as critical regulators of how the bacterium interacts with and survive in its environment. A full catalog of the motifs in protein families and their relative conservation grade is a prerequisite to target the protein-protein interaction that bac

You whistle – and ask, am I alone in here?A whistle emanates from the gut, proceeding to circulate beyond the body, as an absent presence that is felt rather than seen. Whistling in the dark — a nonchalant gesture set within an anxious environment; to summon your courage in the face of projected danger.In the Netherlands, we find ourselves placed at a critical juncture. Much has been said on the r

The article depicts the intense and at times unpredictable fable transfer in eighteenth-century Europe by tracing the source text of one of the most acclaimed works in Swedish fable history, Anna Maria Lenngren’s “Björndansen” [The dance of the bear]. This verse fable, published in Stockholms Posten in 1799 and bringing questions of literary quality and literary criticism into focus, was classifieThe article depicts the intense and at times unpredictable fable transfer in eighteenth-century Europe by tracing the source text of one of the most acclaimed works in Swedish fable history, Anna Maria Lenngren’s “Björndansen” [The dance of the bear]. This verse fable, published in Stockholms Posten in 1799 and bringing questions of literary quality and literary criticism into focus, was classifie

In the set of commentaries on liquidity entitled “The continuing significance of social structure in liquid modernity,” three sets of authors set out to examine the relationship between liquidity and structure, value, and distinction. In doing so, they attempt to marry theories which argue against sociologist Zygmunt Bauman’s central thesis that societal structures are shifting with his seminal co

Background: Cardiac allograft vasculopathy (CAV) is characterized by diffuse thickening of the arterial intima. Statins reduce the incidence of CAV, but despite the use of statins, CAV remains one of the leading causes of long-term death after heart transplant. Inhibitors of proprotein convertase subtilisin-kexin type 9 (PCSK9) substantially reduce cholesterol levels but have not been tested in he

Purpose: This study aimsed to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals. Methods: Individuals harboring heterozygous missense or loss-of-function variants in SNAP25 were assembled through collaboration with international colleagues,

The PNPLA3 I148M variant is the major genetic risk factor for all stages of fatty liver disease, but the underlying pathophysiology remains unclear. We studied the effect of this variant on hepatic metabolism in homozygous carriers and non-carriers under multiple physiological conditions with state-of-the-art stable isotope techniques. After an overnight fast, carriers had higher plasma β-hydroxyb