Catálogo de publicaciones - revistas

<jats:p>We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to a depth of more than 200×. Typically, brains had 20 to 60 detectable single-nucleotide mutations, but ~6% of brains harbored hundreds of somatic mutations. Hypermutability was associated with age and damaging mutations in genes implicated in cancers and, in some brains, reflected in vivo clonal expansions. Somatic duplications, likely arising during development, were found in ~5% of normal and diseased brains, reflecting background mutagenesis. Brains with autism were associated with mutations creating putative transcription factor binding motifs in enhancer-like regions in the developing brain. The top-ranked affected motifs corresponded to MEIS (myeloid ectopic viral integration site) transcription factors, suggesting a potential link between their involvement in gene regulation and autism.</jats:p>

<jats:p>Continuous imaging of internal organs over days could provide crucial information about health and diseases and enable insights into developmental biology. We report a bioadhesive ultrasound (BAUS) device that consists of a thin and rigid ultrasound probe robustly adhered to the skin via a couplant made of a soft, tough, antidehydrating, and bioadhesive hydrogel-elastomer hybrid. The BAUS device provides 48 hours of continuous imaging of diverse internal organs, including blood vessels, muscle, heart, gastrointestinal tract, diaphragm, and lung. The BAUS device could enable diagnostic and monitoring tools for various diseases.</jats:p>

<jats:p>Much uncertainty exists about the vulnerability of valuable tidal marsh ecosystems to relative sea level rise. Previous assessments of resilience to sea level rise, to which marshes can adjust by sediment accretion and elevation gain, revealed contrasting results, depending on contemporary or Holocene geological data. By analyzing globally distributed contemporary data, we found that marsh sediment accretion increases in parity with sea level rise, seemingly confirming previously claimed marsh resilience. However, subsidence of the substrate shows a nonlinear increase with accretion. As a result, marsh elevation gain is constrained in relation to sea level rise, and deficits emerge that are consistent with Holocene observations of tidal marsh vulnerability.</jats:p>

<jats:p> The long-held belief that animal-mediated pollination is absent in the sea has recently been contradicted in seagrasses, motivating investigations of other marine phyla. This is particularly relevant in red algae, in which female gametes are not liberated and male gametes are not flagellated. Using experiments with the isopod <jats:italic>Idotea balthica</jats:italic> and the red alga <jats:italic>Gracilaria gracilis</jats:italic> , we demonstrate that biotic interactions dramatically increase the fertilization success of the alga through animal transport of spermatia on their body. This discovery suggests that animal-mediated fertilization could have evolved independently in terrestrial and marine environments and raises the possibility of its emergence in the sea before plants moved ashore. </jats:p>

<jats:p> In halide perovskite solar cells the formation of secondary-phase excess lead iodide (PbI <jats:sub>2</jats:sub> ) has some positive effects on power conversion efficiency (PCE) but can be detrimental to device stability and lead to large hysteresis effects in voltage sweeps. We converted PbI <jats:sub>2</jats:sub> into an inactive (PbI <jats:sub>2</jats:sub> ) <jats:sub>2</jats:sub> RbCl compound by RbCl doping, which effectively stabilizes the perovskite phase. We obtained a certified PCE of 25.6% for FAPbI <jats:sub>3</jats:sub> (FA, formamidinium) perovskite solar cells on the basis of this strategy. Devices retained 96% of their original PCE values after 1000 hours of shelf storage and 80% after 500 hours of thermal stability testing at 85°C. </jats:p>

<jats:p> Covalent modification of carbon nanotubes is a promising strategy for engineering their electronic structures. However, keeping modification sites in registration with a nanotube lattice is challenging. We report a solution using DNA-directed, guanine (G)-specific cross-linking chemistry. Through DNA screening we identify a sequence, C <jats:sub>3</jats:sub> GC <jats:sub>7</jats:sub> GC <jats:sub>3</jats:sub> , whose reaction with an (8,3) enantiomer yields minimum disorder-induced Raman mode intensities and photoluminescence Stokes shift, suggesting ordered defect array formation. Single-particle cryo–electron microscopy shows that the C <jats:sub>3</jats:sub> GC <jats:sub>7</jats:sub> GC <jats:sub>3</jats:sub> functionalized (8,3) has an ordered helical structure with a 6.5 angstroms periodicity. Reaction mechanism analysis suggests that the helical periodicity arises from an array of G-modified carbon-carbon bonds separated by a fixed distance along an armchair helical line. Our findings may be used to remodel nanotube lattices for novel electronic properties. </jats:p>

<jats:p>Nanoscale ionic programmable resistors for analog deep learning are 1000 times smaller than biological cells, but it is not yet clear how much faster they can be relative to neurons and synapses. Scaling analyses of ionic transport and charge-transfer reaction rates point to operation in the nonlinear regime, where extreme electric fields are present within the solid electrolyte and its interfaces. In this work, we generated silicon-compatible nanoscale protonic programmable resistors with highly desirable characteristics under extreme electric fields. This operation regime enabled controlled shuttling and intercalation of protons in nanoseconds at room temperature in an energy-efficient manner. The devices showed symmetric, linear, and reversible modulation characteristics with many conductance states covering a 20× dynamic range. Thus, the space-time-energy performance of the all–solid-state artificial synapses can greatly exceed that of their biological counterparts.</jats:p>

<jats:p> The cilium is an antenna-like organelle that performs numerous cellular functions, including motility, sensing, and signaling. The base of the cilium contains a selective barrier that regulates the entry of large intraflagellar transport (IFT) trains, which carry cargo proteins required for ciliary assembly and maintenance. However, the native architecture of the ciliary base and the process of IFT train assembly remain unresolved. In this work, we used in situ cryo–electron tomography to reveal native structures of the transition zone region and assembling IFT trains at the ciliary base in <jats:italic>Chlamydomonas</jats:italic> . We combined this direct cellular visualization with ultrastructure expansion microscopy to describe the front-to-back stepwise assembly of IFT trains: IFT-B forms the backbone, onto which bind IFT-A, dynein-1b, and finally kinesin-2 before entry into the cilium. </jats:p>

<jats:p>The hypothalamic-pituitary (HP) unit can produce various hormones to regulate immune responses and some of its downstream hormones or effectors are elevated in cancer patients. We show that HP unit can promote myelopoiesis and immunosuppression to accelerate tumor growth. Subcutaneous implantation of tumors induced hypothalamus activation and pituitary α-melanocyte stimulating hormone (α-MSH) production in mice. α-MSH acted on bone marrow progenitors to promote myelopoiesis, myeloid cell accumulation, immunosuppression and tumor growth through its receptor MC5R. MC5R peptide antagonist boosted antitumor immunity and anti-programmed cell death protein 1 (anti-PD-1) immunotherapy. Serum α-MSH concentration was elevated and correlated with circulating myeloid-derived suppressor cells (MDSCs) in cancer patients. Our results reveal a neuroendocrine pathway which suppresses tumor immunity, and suggest MC5R as a potential target for cancer immunotherapy.</jats:p>