New insights into CC2D2A-related Joubert syndrome.

PURPOSE: In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes, CC2D2A. METHODS: We selected 53 patients with pathogenic variants on CC2D2A, compiled and analysed their clinical, neuroimaging and genetic information and compared it to previous literature. RESULTS: Developmental delay (motor and language) was nearly constant but patients had normal intellectual efficiency in 74% of cases (20/27 patients) and 68% followed mainstream schooling despite learning difficulties. Epilepsy was found in only 13% of cases. Only three patients had kidney cysts, only three had genuine retinal dystrophy and no subject had liver fibrosis or polydactyly. Brain MRIs showed typical signs of JS with rare additional features. Genotype-phenotype correlation findings demonstrate a homozygous truncating variant p.Arg950* linked to a more severe phenotype. CONCLUSION: This study contradicts previous literature stating an association between CC2D2A-related JS and ventriculomegaly. Our study implies that CC2D2A-related JS is linked to positive neurodevelopmental outcome and low rate of other organ defects except for homozygous pathogenic variant p.Arg950*. This information will help modulate patient follow-up and provide families with accurate genetic counselling.

Analogy between periodic patterns in thin smectic liquid crystal films and the intermediate state of superconductors.

Spontaneous breaking of symmetry in liquid crystal (LC) films often reveals itself as a microscopic pattern of molecular alignment. In a smectic-A LC, the emergence of positional order at the transition from the nematic phase leads to periodic textures that can be used as optical microarrays, templates for soft lithography, and ordering matrices for the organization and manipulation of functional nanoparticles. While both 1d and 2d patterns have been obtained as a function of the LC film thickness and applied fields, the connection has not been made between pattern formation and the peculiar critical behavior of LCs at the nematic-smectic transition, still eluding a comprehensive theoretical explanation. In this article, we demonstrate that an intense bend distortion applied to the LC molecular director while cooling from the nematic phase produces a frustrated smectic phase with depressed transition temperature, and the characteristic 1d periodic texture previously observed in thin films and under applied electric fields. In light of De Gennes' analogy with the normal-superconductor transition of a metal, we identify the 1d texture as the equivalent of the intermediate state in type I superconductors. The bend distortion is analog to the magnetic field in metals and penetrates in the frustrated phase as an array of undercooled nematic domains, periodically intermixed with bend-free smectic-A domains. Our findings provide fundamental evidence for theories of the nematic-smectic transition, highlighting the deep connection between phase frustration and pattern formation, and perspectives on the design of functional smectic microarrays.

Shape instabilities of islands in smectic films under lateral compression.

Smectic liquid crystals are fluids, and in most rheological situations they behave as such. Nevertheless, when thin freely floating films of smectic A or smectic C materials are compressed quickly in-plane, they resist such stress by buckling similar to solid membranes under lateral stress. We report experimental observations of wrinkling and bulging of finite domains within the films, so-called islands, and give a qualitative explanation of different observed patterns. Depending on the external stress and their dimensions, the islands can expel a specifically shaped bulge in their center, form radial wrinkles or develop target-like wrinkle structures. When the external stress is relaxed, these patterns disappear reversibly.

Unique orientation of 1D and 2D nanoparticle assemblies confined in smectic topological defects.

New collective optical properties have emerged recently from organized and oriented arrays of closely packed semiconducting and metallic nanoparticles (NPs). However, it is still challenging to obtain NP assemblies which are similar everywhere on a given sample and, most importantly, share a unique common orientation that would guarantee a unique behavior everywhere on the sample. In this context, by combining optical microscopy, fluorescence microscopy and synchrotron-based grazing incidence X-ray scattering (GISAXS) of assemblies of gold nanospheres and of fluorescent nanorods, we study the interactions between NPs and liquid crystal smectic topological defects that can ultimately lead to unique NP orientations. We demonstrate that arrays of one-dimensional - 1D (dislocations) and two-dimensional - 2D (grain boundaries) topological defects oriented along one single direction confine and organize NPs in closely packed networks but also orient both single nanorods and NP networks along the same direction. Through the comparison between smectic films associated with different kinds of topological defects, we highlight that the coupling between the NP ligands and the smectic layers below the grain boundaries may be necessary to allow for fixed NP orientation. This is in contrast with 1D defects, where the induced orientation of the NPs is intrinsically induced by the confinement independently of the ligand nature. We thus succeeded in achieving the fixed polarization of assemblies of single photon emitters in defects. For gold nanospheres confined in grain boundaries, a strict orientation of hexagonal networks has been obtained with the 〈10〉 direction strictly parallel to the defects. With such closely packed and oriented NPs, new collective properties are now foreseen.

Light-activated helical inversion in cholesteric liquid crystal microdroplets.

Cholesteric liquid crystal (CLC) droplets exhibit nontrivial topological features, which are controlled by the ratio between the cholesteric pitch and the droplet radius. The radial spherical structure (RSS) is of particular interest, as it reveals an onion-like concentric organization of the cholesteric helices, leading to the expression of spherical Bragg microcavities. Using an overcrowded alkene-based unidirectional molecular motor as a dopant, we show that the topological defect structure in the droplet can be activated by illumination. By using appropriate molecular motor concentrations, light can either break the symmetry of topological defects (as observed for the bent-twisted bipolar structure), or it can induce inversion of handedness in an onion-like organization (in the case of RSS). This latter feature may pave the way toward alternative activation modes of lasers based on cholesteric droplets. By also studying CLC droplets once they have reached full photoconversion at photostationary state (PSS), we highlight that the strong influence of confinement on the droplets structure occurs to the same extent after the helix inversion event. Our results are interpreted in terms of numerical simulations of the droplets' structure, which shed light on the major role played by curvature close to the droplets' center, this latter one becoming dominant when the droplet radius is small.

From Chains to Monolayers: Nanoparticle Assembly Driven by Smectic Topological Defects.

In this Letter, we show how advanced hierarchical structures of topological defects in the so-called smectic oily streaks can be used to sequentially transfer their geometrical features to gold nanospheres. We use two kinds of topological defects, 1D dislocations and 2D ribbon-like topological defects. The large trapping efficiency of the smectic dislocation cores not only surpasses that of the elastically distorted zones around the cores but also surpasses the one of the 2D ribbon-like topological defect. This enables the formation of a large number of aligned NP chains within the dislocation cores that can be quasi-fully filled without any significant aggregation outside of the cores. When the NP concentration is large enough to entirely fill the dislocation cores, the LC confinement varies from 1D to 2D. We demonstrate that the 2D topological defect cores induce a confinement that leads to planar hexagonal networks of NPs. We then draw the phase diagram driven by NP concentration, associated with the sequential confinements induced by these two kinds of topological defects. Owing to the excellent large-scale order of these defect cores, not only the NP chains but also the NP hexagonal networks can be oriented along the desired direction, suggesting a possible new route for the creation of either 1D or 2D highly anisotropic NP networks. In addition, these results open rich perspectives based on the possible creation of coexisting NP assemblies of different kinds, localized in different confining areas of a same smectic film that would thus interact thanks to their proximity but also would interact via the surrounding soft matter matrix.

Kinked row-induced chirality driven by molecule-substrate interactions.

Combining STM measurements on three different substrates (HOPG, MoS2, and Au[111]) together with DFT calculations allow for analysis of the origin of the self-assembly of 4-cyano-4'-n-decylbiphenyl (10CB) molecules into kinked row structures using a previously developed phenomenological model. This molecule has an alkyl chain with 10 carbons and a cyanobiphenyl group with a particularly large dipole moment. 10CB represents a toy model that we use here to unravel the relationship between the induced kinked structure, in particular the corresponding chirality expression, and the balanced intermolecular/molecule-substrate interaction. We show that the local ordered structure is driven by the typical alkyl chain/substrate interaction for HOPG and Au[111] and the cyanobiphenyl group/substrate interaction for MoS2. The strongest molecule/substrate interactions are observed for MoS2 and Au[111]. These strong interactions should have led to non-kinked, commensurate adsorbed structures. However, this latter appears impossible due to steric interactions between the neighboring cyanobiphenyl groups that lead to a fan-shape structure of the cyanobiphenyl packing on the three substrates. As a result, the kink-induced chirality is particularly large on MoS2 and Au[111]. A further breaking of symmetry is observed on Au[111] due to an asymmetry of the facing molecules in the rows induced by similar interactions with the substrate of both the alkyl chain and the cyanobiphenyl group. We calculate that the overall 10CB/Au[111] interaction is of the order of 2 eV per molecule. The close 10CB/MoS2 interaction, in contrast, is dominated by the cyanobiphenyl group, being particularly large possibly due to dipole-dipole interactions between the cyanobiphenyl groups and the MoS2 substrate.

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.

Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsychological characteristics of 12 individuals from three families with pathogenic variants in DCC (aged 8-50y), who showed ACC and mirror movements (n=5), mirror movements only (n=2), ACC only (n=3), or neither ACC nor mirror movements (n=2). There was heterogeneity in the neurological and neuroimaging features on brain MRI, and performance across neuropsychological domains ranged from extremely low (impaired) to within normal limits (average). Our findings show that ACC and/or mirror movements are associated with low functioning in select neuropsychological domains and a DCC pathogenic variant alone is not sufficient to explain the disability. WHAT THIS PAPER ADDS: Neuropsychological impairment severity is related to presence of mirror movements and/or agenesis of the corpus callosum. A DCC pathogenic variant in isolation is associated with the best prognosis.

Charge Dynamics and Optolectronic Properties in HgTe Colloidal Quantum Wells.

We investigate the electronic and transport properties of HgTe 2D colloidal quantum wells. We demonstrate that the material can be made p- or n-type depending on the capping ligands. In addition to the control of majority carrier type, the surface chemistry also strongly affects the photoconductivity of the material. These transport measurements are correlated with the electronic structure determined by high resolution X-ray photoemission. We attribute the change of majority carriers to the strong hybridization of an n-doped HgS layer resulting from capping the HgTe nanoplatelets by S2- ions. We further investigate the gate and temperature dependence of the photoresponse and its dynamics. We show that the photocurrent rise and fall times can be tuned from 100 µs to 1 ms using the gate bias. Finally, we use time-resolved photoemission spectroscopy as a probe of the transport relaxation to determine if the observed dynamics are limited by a fundamental process such as trapping. These pump probe surface photovoltage measurements show an even faster relaxation in the 100-500 ns range, which suggests that the current performances are rather limited by geometrical factors.

Chiral oily streaks in a smectic-A liquid crystal.

The liquid crystal octylcyanobiphenyl (8CB) was doped with the chiral agent CB15 and spin-coated onto a substrate treated for planar alignment of the director, resulting in a film of thickness several hundred nm in the smectic-A phase. In both doped and undoped samples, the competing boundary conditions - planar alignment at the substrate and vertical alignment at the free surface - cause the liquid crystal to break into a series of flattened hemicylinders to satisfy the boundary conditions. When viewed under an optical microscope with crossed polarizers, this structure results in a series of dark and light stripes ("oily streaks") of period ∼1 µm. In the absence of chiral dopant the stripes run perpendicular to the substrate's easy axis. However, when doped with chiral CB15 at concentrations up to c = 4 wt%, the stripe orientation rotates by a temperature-dependent angle φ with respect to the c = 0 stripe orientation, where φ increases monotonically with c. φ is largest just below the nematic - smectic-A transition temperature TNA and decreases with decreasing temperature. As the temperature is lowered, φ relaxes to a steady-state orientation close to zero within ∼1 °C of TNA. We suggest that the rotation phenomenon is a manifestation of the surface electroclinic effect: The rotation is due to the weak smectic order parameter and resulting large director tilt susceptibility with respect to the smectic layer normal near TNA, in conjunction with an effective surface electric field due to polar interactions between the liquid crystal and substrate.

Self-organized arrays of dislocations in thin smectic liquid crystal films.

Combining optical microscopy, synchrotron X-ray diffraction and ellipsometry, we studied the internal structure of linear defect domains (oily streaks) in films of a smectic liquid crystal 8CB with thicknesses in the range of 100-300 nm. These films are confined between air and a rubbed PVA polymer substrate which imposes hybrid anchoring conditions (normal and unidirectional planar, respectively). We show how the presence or absence of dislocations controls the structure of highly deformed thin smectic films. Each domain contains smectic layers curved in the shape of flattened hemicylinders to satisfy both anchoring conditions, together with grain boundaries whose size and shape are controlled by the presence of dislocation lines. A flat grain boundary normal to the interface connects neighboring hemicylinders, while a rotating grain boundary (RGB) is located near the axis of curvature of the cylinders. The RGB shape appears such that dislocation lines are concentrated at its summit close to the air interface. The smectic layers reach the polymer substrate via a transition region where the smectic layer orientation satisfies the planar anchoring conditions over the entire polymer substrate and whose thickness does not depend on that of the film. The strength of planar anchoring appears to be high, larger than 10(-2) mJ m(-2), compensating for the high energy cost of creating an additional 2D defect between a horizontal smectic layer and perpendicular ones of the transition region. This 2D defect may be melted, in order to avoid the creation of a transition region structure composed of a large number of dislocations. As a result, linear defect domains can be considered as arrays of oriented defects, straight dislocations of various Burger vectors, whose location is now known, and 2D nematic defects. The possibility of easy variation between the present structure with a moderate amount of dislocations and a structure with a large number of dislocations is also demonstrated.

Tunable Electromagnetic Coupling in Plasmonic Nanostructures Mediated by Thermoresponsive Polymer Brushes.

A smart and highly SERS-active plasmonic platform was designed by coupling regular arrays of nanotriangles to colloidal gold nanorods via a thermoresponsive polymer spacer (poly(N-isopropylacrylamide), PNIPAM). The substrates were prepared by combining a top-down and a bottom-up approach based on nanosphere lithography, surface-initiated controlled radical polymerization, and colloidal assembly. This multistep strategy provided regular hexagonal arrays of nanotriangles functionalized by polymer brushes and colloidal gold nanorods, confined exclusively on the nanotriangle surface. Interestingly, one could finely tune the gold nanorod impregnation on the polymer-coated nanostructures by adjusting the polymer layer thickness, leading to highly coupled plasmonic systems for intense SERS signal. Moreover, the thermoresponsive properties of the PNIPAM brushes could be wisely handled in order to monitor the SERS activity of the nanostructures coupled via this polymer spacer. The coupled hybrid plasmonic nanostructures designed in this work are therefore very promising smart platforms for the sensitive detection of analytes by SERS.

Modeling the optical properties of self-organized arrays of liquid crystal defects.

Local full Mueller matrix measurements in the Fourier plane of a microscope lens were used to determine the internal anisotropic ordering in periodic linear arrays of smectic liquid crystal defects, known as 'oily streaks'. We propose a single microstructure-dependent model taking into account the anisotropic dielectric function of the liquid crystal that reproduces the smectic layers orientation and organization in the oily streaks. The calculated Mueller matrix elements are compared to the measured data to reveal the anchoring mechanism of the smectic oily streaks on the substrate and evidence the presence of new type of defect arrangement. Beyond the scientific inquiry, the understanding and control of the internal structure of such arrays offer technological opportunities for developing liquid-crystal based sensors and self-assembled nanostructures.

Emergence of chirality in hexagonally packed monolayers of hexapentyloxytriphenylene on Au(111): a joint experimental and theoretical study.

We investigate the expression of chirality in a monolayer formed spontaneously by 2,3,6,7,10,11-pentyloxytriphenylene (H5T) on Au(111). We resolve its interface morphology by combining scanning tunneling microscopy (STM) with theoretical calculations of intermolecular and interfacial interaction potentials. We observe two commensurate structures. While both of them belong to a hexagonal space group, analogical to the triangular symmetry of the molecule and the hexagonal symmetry of the substrate surface, they surprisingly reveal a 2D chiral character. The corresponding breaking of symmetry arises for two reasons. First it is due to the establishment of a large molecular density on the substrate, which leads to a rotation of the molecules with respect to the molecular network crystallographic axes to avoid steric repulsion between neighboring alkoxy chains. Second it is due to the molecule-substrate interactions, leading to commensurable large crystallographic cells associated with the large size of the molecule. As a consequence, molecular networks disoriented with respect to the high symmetry directions of the substrate are induced. The high simplicity of the intermolecular and molecule-substrate van der Waals interactions leading to these observations suggests a generic character for this kind of symmetry breaking. We demonstrate that, for similar molecular densities, only two kinds of molecular networks are stabilized by the molecule-substrate interactions. The most stable network favors the interfacial interactions between terminal alkoxy tails and Au(111). The metastable one favors a specific orientation of the triphenylene core with its symmetry axes collinear to the Au⟨110⟩. This specific orientation of the triphenylene cores with respect to Au(111) appears associated with an energy advantage larger by at least 0.26 eV with respect to the disoriented core.

Switching at the nanoscale: light- and STM-tip-induced switch of a thiolated diarylethene self-assembly on Au(111).

The light-induced and STM-tip-induced switching of photochromic thiol functionalized terphenylthiazole-based diarylethene self-assembly on Au(111) has been investigated in ambient conditions. For such a purpose, we took advantage of the formation of highly ordered domains of opened-ring (1o) or closed-ring (1c) diarylethene isomers. We evidenced a STM-tip-induced switching for the 1o isomer characterized by a tip bias threshold of 1000 mV above which switching of all molecules of the ordered 1o domains occurs into the 1c isomer. In contrast, switching from 1c form into 1o form is not observed at the same tunnelling conditions within a domain formed by ordered 1c molecules. We compared tip-induced switching of ordered 1o domains and switching of single 1o isomers embedded in 1c domains. This led to the demonstration that the process of switching of the 1o isomer is determined by geometry of the molecules but also that the stability of the switched 1c isomer depends on the nature of the surrounding isomers. We also compare tip-induced switching and switching under the action of external UV light irradiation of ordered 1o domains. In contrast with STM tip-induced switching, the UV light induces switching of 1o domains into their stable 1c form, in agreement with a collective switching under irradiation, which cannot occur under the action of STM tip.

Gold nanoparticles on oxide-free silicon-molecule interface for single electron transport.

Two different organic monolayers were prepared on silicon Si(111) and modified for attaching gold nanoparticles. The molecules are covalently bound to silicon and form very ordered monolayers sometimes improperly called self-assembled monolayers (SAM). They are designed to be electrically insulating and to have very few electrical interface states. By positioning the tip of an STM above a nanoparticle, a double barrier tunnel junction (DBTJ) is created, and Coulomb blockade is demonstrated at 40 K. This is the first time Coulomb blockade is observed with an organic monolayer on oxide-free silicon. This work focuses on the fabrication and initial electrical characterization of this double barrier tunnel junction. The organic layers were prepared by thermal hydrosilylation of two different alkene molecules with either a long carbon chain (C11) or a shorter one (C7), and both were modified to be amine-terminated. FTIR and XPS measurements confirm that the Si(111) substrate remains unoxidized during the whole chemical process. Colloidal gold nanoparticles were prepared using two methods: either with citrate molecules (Turkevich method) or with ascorbic acid as the surfactant. In both cases AFM and STM images show a well-controlled deposition on the grafted organic monolayer. I-V curves obtained by scanning tunneling spectroscopy (STS) are presented on 8 nm diameter nanoparticles and exhibit the well-known Coulomb staircases at low temperature. The curves are discussed as a function of the organic layer thickness and silicon substrate doping.

Morphology of open films of discotic hexagonal columnar liquid crystals as probed by grazing incidence X-ray diffraction.

The structure and the orientation of thermotropic hexagonal columnar liquid crystals are studied by grazing incidence X-ray diffraction (GIXD) for different discotic compounds in the geometry of open supported thin films. Whatever the film deposition mode (either spin-coating or vacuum evaporation) and the film thickness, a degenerate planar alignment with the liquid crystalline columns parallel to the substrate is found. However, if a specific thermal process is applied to the liquid crystal film, homeotropic anchoring (columns normal to the interface) can be stabilized in a metastable state.

Viscoelastic and dielectric properties of 5CB nematic liquid crystal doped by magnetic and nonmagnetic nanoparticles.

In this article we show how spherical nanoparticles (NPs) imposing planar anchoring can strongly impact the viscoelastic, dielectric, and electro-optical properties of a nematic liquid crystal when they are not aggregated. We also demonstrate that when the NPs are magnetic, most nematic properties are more impacted than when they are nonmagnetic. With magnetic NPs a molecular disorder is induced that decreases the nematic order parameter, this decrease impacting the values of elastic constants, viscosity, and response time. The impact on 5CB liquid crystal (LC) has been investigated with spherical nanoparticles (NPs) of identical size around 6 nm, magnetic (γFe_{2}O_{3}), and nonmagnetic (CeO_{2}) ones that are both surface functionalized by poly(aminopropylmethylsiloxane-b-dimethylsiloxane) (PAPMS-b-PDMS) block copolymer ligands to promote planar anchoring. In the presence of nonmagnetic NPs, despite an almost constant nematic order parameter, a significant decrease of elastic constants (25.4%), viscosity (22%), and response time (23%) is measured. It suggests a dilution effect for the intermolecular interactions in the presence of NPs. This hypothesis is supported by the observation of an enhanced decrease of the same nematic parameters in the presence of magnetic NPs that can be fully explained by the corresponding order parameter decrease. This finally leads to a remarkable decrease of the splay elastic constant by 51% in the presence of magnetic NPs. The decrease of the nematic order parameter by 18% in the presence of magnetic NPs demonstrates that the NP magnetic moments are only weakly coupled to the nematic director and consequently only induce a disorder in the composite system. A significant influence of the expected large LC structural modifications in the presence of magnetic NPs is, however, shown by a particularly large increase of the diffusion coefficient 43% and large decrease of the dielectric anisotropy (43%). We believe that the observed impact of NPs with planar anchoring on nematic properties could be extended to most spherical NPs if their aggregation can be avoided. In particular, the difference between magnetic and nonmagnetic NPs could be extended to ferroelectric and nonferroelectric NPs.

Photoinduced reorganization of motor-doped chiral liquid crystals: bridging molecular isomerization and texture rotation.

We recently reported that the photoisomerization of molecular motors used as chiral dopants in a cholesteric liquid crystal film induces a rotational reorganization which can be observed by optical microscopy and produces the motion of microscopic objects placed on top of the film (Feringa, B. L.; et al. Nature 2006, 440, 163; J. Am. Chem. Soc. 2006, 128, 14397). The mechanism underlying the mesoscopic manifestation of the molecular process was not fully understood, and here we present a joint theoretical and experimental investigation, which provides a detailed insight into the mechanism of texture rotation. This description allows us to identify the interplay between the chemical structure of the chiral dopant and the material properties of the liquid crystal host, and to quantify their role in the observed dynamic phenomenon. We have found that a crucial role is played by the hybrid anchoring of the liquid crystal, with the director parallel to the substrate and perpendicular to the interface with air; in this configuration an almost unperturbed cholesteric helix, with its axis normal to the substrate, is present in most of the film, with strong deformations only close to the free interface. The texture rotation observed in the experiment reflects the rotation of the director during the unwinding of the cholesteric helix, produced by the change in shape of the chiral dopant under photoisomerization. The rotational reorganization is controlled by the photochemical process, via the coupling between the chirality of the dopant and the elastic properties of the liquid crystal host.

Surface-frustrated periodic textures of smectic- a liquid crystals on crystalline surfaces.

Using polarizing optical microscopy we studied thin films and droplets of smectic- A 4-cyano- 4;{'} -n-octylbiphenyl (8CB) liquid crystal deposited in air on crystalline surfaces of muscovite mica that induce monostable planar anchoring. The competition with the homeotropic anchoring at the 8CB-air interface leads to the formation of one-dimensional (1D) patterns composed of straight, parallel defect domains that are organized in periodic arrays over areas as large as several mm;{2} . We have developed a simple model which identifies the arrays with self-assembled "oily streaks," comprising straight disclination lines and curvature walls. The model reproduces the observed monotonic increase of the period p with the film thickness h in the range p=1-4 microm and h=0.8-17 microm. For higher values of h we observed a sharp transition to a 2D lattice of fragmented focal conic domains. Despite the apparent generality of our model for hybrid planar-homeotropic anchoring conditions, periodic arrays of straight oily streaks have been observed so far only for 8CB on crystalline surfaces such as mica or MoS2 . Our model indicates that this specificity is due to a particularly strong anchoring of the liquid crystal on such surfaces.