81 research outputs found
Tilt order parameters, polarity and inversion phenomena in smectic liquid crystals
The order parameters for the phenomenological description of the smectic-{\it
A} to smectic-{\it C} phase transition are formulated on the basis of molecular
symmetry and structure. It is shown that, unless the long molecular axis is an
axis of two-fold or higher rotational symmetry, the ordering of the molecules
in the smectic-{\it C} phase gives rise to more than one tilt order parameter
and to one or more polar order parameters. The latter describe the indigenous
polarity of the smectic-{\it C} phase, which is not related to molecular
chirality but underlies the appearance of spontaneous polarisation in chiral
smectics. A phenomenological theory of the phase transition is formulated by
means of a Landau expansion in two tilt order parameters (primary and
secondary) and an indigenous polarity order parameter. The coupling among these
order parameters determines the possibility of sign inversions in the
temperature dependence of the spontaneous polarisation and of the helical pitch
observed experimentally for some chiral smectic-{\it } materials. The
molecular interpretation of the inversion phenomena is examined in the light of
the new formulation.Comment: 12 pages, 5 figures, RevTe
Comprehensive molecular and clinical characterization of NUP98 fusions in pediatric acute myeloid leukemia
NUP98 fusions comprise a family of rare recurrent alterations in AML, associated with adverse outcomes. In order to define the underlying biology and clinical implications of this family of fusions, we performed comprehensive transcriptome, epigenome, and immunophenotypic profiling of 2,235 children and young adults with AML and identified 160 NUP98 rearrangements (7.2%), including 108 NUP98-NSD1 (4.8%), 32 NUP98-KDM5A (1.4%) and 20 NUP98-X cases (0.9%) with 13 different fusion partners. Fusion partners defined disease characteristics and biology; patients with NUP98-NSD1 or NUP98-KDM5A had distinct immunophenotypic, transcriptomic, and epigenomic profiles. Unlike the two most prevalent NUP98 fusions, NUP98-X variants are typically not cryptic. Furthermore, NUP98-X cases are associated with WT1 mutations, and have epigenomic profiles that resemble either NUP98-NSD1 or NUP98-KDM5A. Cooperating FLT3-ITD and WT1 mutations define NUP98-NSD1, and chromosome 13 aberrations are highly enriched in NUP98-KDM5A. Importantly, we demonstrate that NUP98 fusions portend dismal overall survival, with the noteworthy exception of patients bearing abnormal chromosome 13 (clinicaltrials gov. Identifiers: NCT00002798, NCT00070174, NCT00372593, NCT01371981).</p
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