Exclusion of the Locus for Autosomal Recessive Pseudohypoaldosteronism Type 1 from the Mineralocorticoid Receptor Gene Region on Human Chromosome 4q by Linkage Analysis.

Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to mineralocorticoids. Clinical expression of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defect in the mineralocorticoid receptor has been implicated as a likely cause of PHA1. The gene for human mineralocorticoid receptor (MLR) has been cloned and physically mapped to human chromosome 4q31.1-31.2. The etiological role of MLR in autosomal recessive PHA1 was investigated by performing linkage analysis between PHA1 and three simple sequence length polymorphisms (D4S192, D4S1548, and D4S413) on chromosome 4q in 10 consanguineous families. Linkage analysis was carried out assuming autosomal recessive inheritance with full penetrance and zero phenocopy rate using the MLINK program for two-point analysis and the HOMOZ program for multipoint analysis. Lod scores of less than -2 were obtained over the whole region from D4S192 to D4S413 encompassing MLR. This provdes evidence against MLR as the site of mutations causing PHA1 in the majority of autosomal recessive families

Quantum States and Phases in Driven Open Quantum Systems with Cold Atoms

An open quantum system, whose time evolution is governed by a master equation, can be driven into a given pure quantum state by an appropriate design of the system-reservoir coupling. This points out a route towards preparing many body states and non-equilibrium quantum phases by quantum reservoir engineering. Here we discuss in detail the example of a \emph{driven dissipative Bose Einstein Condensate} of bosons and of paired fermions, where atoms in an optical lattice are coupled to a bath of Bogoliubov excitations via the atomic current representing \emph{local dissipation}. In the absence of interactions the lattice gas is driven into a pure state with long range order. Weak interactions lead to a weakly mixed state, which in 3D can be understood as a depletion of the condensate, and in 1D and 2D exhibits properties reminiscent of a Luttinger liquid or a Kosterlitz-Thouless critical phase at finite temperature, with the role of the ``finite temperature'' played by the interactions.Comment: 9 pages, 2 figure

Non-equilibrium coherence dynamics in one-dimensional Bose gases

Low-dimensional systems are beautiful examples of many-body quantum physics. For one-dimensional systems the Luttinger liquid approach provides insight into universal properties. Much is known of the equilibrium state, both in the weakly and strongly interacting regime. However, it remains a challenge to probe the dynamics by which this equilibrium state is reached. Here we present a direct experimental study of the coherence dynamics in both isolated and coupled degenerate 1d Bose gases. Dynamic splitting is used to create two 1d systems in a phase coherent state. The time evolution of the coherence is revealed in local phase shifts of the subsequently observed interference patterns. Completely isolated 1d Bose gases are observed to exhibit a universal sub-exponential coherence decay in excellent agreement with recent predictions by Burkov et al. [Phys. Rev. Lett. 98, 200404 (2007)]. For two coupled 1d Bose gases the coherence factor is observed to approach a non-zero equilibrium value as predicted by a Bogoliubov approach. This coupled-system decay to finite coherence is the matter wave equivalent of phase locking two lasers by injection. The non-equilibrium dynamics of superfluids plays an important role in a wide range of physical systems, such as superconductors, quantum-Hall systems, superfluid Helium, and spin systems. Our experiments studying coherence dynamics show that 1d Bose gases are ideally suited for investigating this class of phenomena.Comment: to appear in natur

Photocurrent measurements of supercollision cooling in graphene

The cooling of hot electrons in graphene is the critical process underlying the operation of exciting new graphene-based optoelectronic and plasmonic devices, but the nature of this cooling is controversial. We extract the hot electron cooling rate near the Fermi level by using graphene as novel photothermal thermometer that measures the electron temperature ($T(t)$) as it cools dynamically. We find the photocurrent generated from graphene $p-n$ junctions is well described by the energy dissipation rate $C dT/dt=-A(T^3-T_l^3)$, where the heat capacity is $C=\alpha T$ and $T_l$ is the base lattice temperature. These results are in disagreement with predictions of electron-phonon emission in a disorder-free graphene system, but in excellent quantitative agreement with recent predictions of a disorder-enhanced supercollision (SC) cooling mechanism. We find that the SC model provides a complete and unified picture of energy loss near the Fermi level over the wide range of electronic (15 to $\sim$3000 K) and lattice (10 to 295 K) temperatures investigated.Comment: 7pages, 5 figure

Hot Carrier Transport and Photocurrent Response in Graphene

Strong electron-electron interactions in graphene are expected to result in multiple-excitation generation by the absorption of a single photon. We show that the impact of carrier multiplication on photocurrent response is enhanced by very inefficient electron cooling, resulting in an abundance of hot carriers. The hot-carrier-mediated energy transport dominates the photoresponse and manifests itself in quantum efficiencies that can exceed unity, as well as in a characteristic dependence of the photocurrent on gate voltages. The pattern of multiple photocurrent sign changes as a function of gate voltage provides a fingerprint of hot-carrier-dominated transport and carrier multiplication.Comment: 4 pgs, 2 fg

Photoconductivity of biased graphene

Graphene is a promising candidate for optoelectronic applications such as photodetectors, terahertz imagers, and plasmonic devices. The origin of photoresponse in graphene junctions has been studied extensively and is attributed to either thermoelectric or photovoltaic effects. In addition, hot carrier transport and carrier multiplication are thought to play an important role. Here we report the intrinsic photoresponse in biased but otherwise homogeneous graphene. In this classic photoconductivity experiment, the thermoelectric effects are insignificant. Instead, the photovoltaic and a photo-induced bolometric effect dominate the photoresponse due to hot photocarrier generation and subsequent lattice heating through electron-phonon cooling channels respectively. The measured photocurrent displays polarity reversal as it alternates between these two mechanisms in a backgate voltage sweep. Our analysis yields elevated electron and phonon temperatures, with the former an order higher than the latter, confirming that hot electrons drive the photovoltaic response of homogeneous graphene near the Dirac point

Exciton swapping in a twisted graphene bilayer as a solid-state realization of a two-brane model

It is shown that exciton swapping between two graphene sheets may occur under specific conditions. A magnetically tunable optical filter is described to demonstrate this new effect. Mathematically, it is shown that two turbostratic graphene layers can be described as a "noncommutative" two-sheeted (2+1)-spacetime thanks to a formalism previously introduced for the study of braneworlds in high energy physics. The Hamiltonian of the model contains a coupling term connecting the two layers which is similar to the coupling existing between two braneworlds at a quantum level. In the present case, this term is related to a K-K' intervalley coupling. In addition, the experimental observation of this effect could be a way to assess the relevance of some theoretical concepts of the braneworld hypothesis.Comment: 15 pages, 3 figures, final version published in European Physical Journal

Adiabatic perturbation theory: from Landau-Zener problem to quenching through a quantum critical point

We discuss the application of the adiabatic perturbation theory to analyze the dynamics in various systems in the limit of slow parametric changes of the Hamiltonian. We first consider a two-level system and give an elementary derivation of the asymptotics of the transition probability when the tuning parameter slowly changes in the finite range. Then we apply this perturbation theory to many-particle systems with low energy spectrum characterized by quasiparticle excitations. Within this approach we derive the scaling of various quantities such as the density of generated defects, entropy and energy. We discuss the applications of this approach to a specific situation where the system crosses a quantum critical point. We also show the connection between adiabatic and sudden quenches near a quantum phase transitions and discuss the effects of quasiparticle statistics on slow and sudden quenches at finite temperatures.Comment: 20 pages, 3 figures, contribution to "Quantum Quenching, Annealing and Computation", Eds. A. Das, A. Chandra and B. K. Chakrabarti, Lect. Notes in Phys., Springer, Heidelberg (2009, to be published), reference correcte

Electron quantum metamaterials in van der Waals heterostructures

In recent decades, scientists have developed the means to engineer synthetic periodic arrays with feature sizes below the wavelength of light. When such features are appropriately structured, electromagnetic radiation can be manipulated in unusual ways, resulting in optical metamaterials whose function is directly controlled through nanoscale structure. Nature, too, has adopted such techniques -- for example in the unique coloring of butterfly wings -- to manipulate photons as they propagate through nanoscale periodic assemblies. In this Perspective, we highlight the intriguing potential of designer sub-electron wavelength (as well as wavelength-scale) structuring of electronic matter, which affords a new range of synthetic quantum metamaterials with unconventional responses. Driven by experimental developments in stacking atomically layered heterostructures -- e.g., mechanical pick-up/transfer assembly -- atomic scale registrations and structures can be readily tuned over distances smaller than characteristic electronic length-scales (such as electron wavelength, screening length, and electron mean free path). Yet electronic metamaterials promise far richer categories of behavior than those found in conventional optical metamaterial technologies. This is because unlike photons that scarcely interact with each other, electrons in subwavelength structured metamaterials are charged, and strongly interact. As a result, an enormous variety of emergent phenomena can be expected, and radically new classes of interacting quantum metamaterials designed

Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism

Background: Active sodium absorption is the dominant mechanism of ion transport in airway epithelium, but its role in pulmonary physiology and airway host defense is unknown. To address this question, we studied the function of airway epithelial cells and determined the frequency of pulmonary symptoms in patients with systemic pseudohypoaldosteronism, a salt-losing disorder caused by loss-of-function mutations in the genes for the epithelial sodium channel. Methods: In nine patients 1.5 to 22 years of age who had systemic pseudohypoaldosteronism, we tested for mutations in the genes for the epithelial sodium channel, estimated the rate of sodium transport in the airway, determined the volume and ion composition of airway surface liquid, reviewed clinical features, collected laboratory data pertinent to pulmonary function, and, in three adults, measured mucociliary clearance. Results: The patients with systemic pseudohypoaldosteronism had loss-of-function mutations in the genes for the epithelial sodium-channel subunits, no sodium absorption from airway surfaces, and a volume of airway surface liquid that was more than twice the normal value. The mean (±SE) mucociliary transport rate was higher in the 3 adult patients than in 12 normal subjects (2.0 ± 0.7 vs. 0.5 ± 0.3 percent per minute, P = 0.009). Young patients (those five years of age or less) all had recurrent episodes of chest congestion, coughing, and wheezing, but no airway infections with Staphylococcus aureus or Pseudomonas aeruginosa. Older patients (those more than five years of age) had less frequent respiratory symptoms. Conclusions: Patients with systemic pseudohypoaldosteronism fail to absorb liquid from airway surfaces; the result is an increased volume of liquid in the airways. These results demonstrate that sodium transport has a role in regulating the volume of liquid on airway surfaces