… The mutant protein was no longer able to bind the fluorescent fatty acid analog cis-parinaric
acid, nor would it adhere to a long-chain fatty acid affinity column (MA Simpson, DA Bernlohr…

Background Trials of endovascular therapy for ischemic stroke have produced variable
results. We conducted this study to test whether more advanced imaging selection, recently …

Hidradenitis suppurativa (HS) is a debilitating chronic inflammatory skin condition of unclear
etiology. It may segregate as an autosomal dominant trait, and heterozygous mutations in …

… The quantity of HA production was attributable to elevated expression of a single isozyme
orthologue of the human HA synthase HAS2, which also produces HA of high-molecular mass …

… From left to right, the labels at the top of the panel indicate molecular mass markers, wild-type
HiII and targeted integration (TI) event numbers. At the bottom of the panel, TI/- indicates …

Background Despite the molecular heterogeneity of standard-risk acute myeloid leukemia (AML),
treatment decisions are based on a limited number of molecular genetic markers and …

We identified an autosomal recessive infantile-onset symptomatic epilepsy syndrome associated
with developmental stagnation and blindness. Assuming a founder effect in a large Old …

Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of
psoriasis, characterized by the formation of sterile cutaneous pustules, neutrophilia, fever and …

We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an
autosomal dominant primary lymphedema associated with a predisposition to acute myeloid …

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is an inherited autosomal dominant condition characterized by …