42 research outputs found
Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population
<div><p>Genome-wide association studies (GWAS) have identified dozens of common genetic variants associated with risk of colorectal cancer (CRC). However, the majority of CRC heritability remains unclear. In order to discover low-frequency, high-risk CRC susceptibility variants in Swedish population, we genotyped 1 515 CRC patients enriched for familial cases, and 12 108 controls. Case/control association analysis suggested eight novel variants associated with CRC risk (OR 2.0–17.6, p-value < 2.0E-07), comprised of seven coding variants in genes <i>RAB11FIP5</i>, <i>POTEA</i>, <i>COL27A1</i>, <i>MUC5B</i>, <i>PSMA8</i>, <i>MYH7B</i>, and <i>PABPC1L</i> as well as one variant downstream of <i>NEU1</i> gene. We also confirmed 27 out of 30 risk variants previously reported from GWAS in CRC with a mixed European population background. This study identified rare, coding sequence variants associated with CRC risk through analysis in a relatively homogeneous population. The segregation data suggest a complex mode of inheritance in seemingly dominant pedigrees.</p></div
A proteomic insight into the midgut proteome of Ornithodoros moubata females reveals novel information on blood digestion in argasid ticks
IFN‐γ/mTORC1 decreased Rab11 in Schwann cells of diabetic peripheral neuropathy, inhibiting cell proliferation via GLUT1 downregulation
Differently sized drug-loaded mesoporous silica nanoparticles elicit differential gene expression in MCF-7 cancer cells
Distinguishing Amorphous and Crystalline Ice by Ultralow Energy Collisions of Reactive Ions
Ion scattering using ultralow energy
projectiles is considered
to be a unique method to probe the nature of molecular surfaces because
of its capacity to probe the very top, atomically thin layers. Here,
we examine one of the most studied molecular solids, water-ice, using
this technique. When ice surface undergoes the amorphous to crystalline
transition, an ultralow energy reactive projectile identifies the
change through the reaction product formed. It is shown that ultralow
energy (2, 3, 4, 5, 6, and 7 eV) CH<sub>2</sub><sup>+</sup> (or CD<sub>2</sub><sup>+</sup>) collision on amorphous D<sub>2</sub>O (or H<sub>2</sub>O) ice makes CHD<sup>+</sup>, while crystalline ice does not.
The projectile undergoes H/D exchange with the dangling −OD
(−OH) bond present on amorphous ice surfaces. It is also shown
that H/D exchange product disappears when amorphous ice is annealed
to the crystalline phase. The H/D exchange reaction is shown to be
sensitive only to the surface layers of ice as it disappears when
the surface is covered with long chain alcohols like 1-pentanol as
the ice surfaces become inaccessible for the incoming projectile.
This article shows that ultralow energy reactive ion collision is
a novel method to distinguish phase transitions in molecular solids