Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of as a novel mechanism of congenital amegakaryocytic thrombocytopenia.

Congenital amegakaryocytic thrombocytopenia (CAMT) is a recessive disorder characterized by severe reduction of megakaryocytes and platelets at birth, which evolves toward bone marrow aplasia in childhood. CAMT is mostly caused by mutations in MPL (CAMT-MPL), the gene encoding the receptor of thrombopoietin (THPO), a crucial cytokine regulating hematopoiesis. CAMT can be also due to mutations affecting the THPO coding region (CAMT-THPO).

The Role of Spin-Flip Collisions in a Dark-Exciton Condensate.

We show that a Bose-Einstein condensate consisting of dark excitons forms in GaAs coupled quantum wells at low temperatures. We find that the condensate extends over hundreds of micrometers, well beyond the optical excitation region, and is limited only by the boundaries of the mesa. We show that the condensate density is determined by spin-flipping collisions among the excitons, which convert dark excitons into bright ones.

Refining the Phenotypic Spectrum of -Associated Developmental Delay.

The role of lysine methyltransferases (KMTs) and demethylases (KDMs) in the regulation of chromatin modification is well-established. Recently, deleterious heterozygous variants in were implicated in individuals with intellectual disability (ID) and/or autism spectrum disorder. We describe three unrelated patients with global developmental delay (GDD) or ID, macrocephaly and additional features.

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Background: Genetic kidney diseases contribute a significant portion of kidney diseases in children and young adults. Nephrogenetics is a rapidly evolving subspecialty; however, in the clinical setting, increased use of genetic testing poses implementation challenges. Consequently, we established a national nephrogenetics clinic to apply a multidisciplinary model.

Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.

Osteosclerotic metaphyseal dysplasia is a rare disorder which features osteosclerosis involving long bones, vertebrae, ribs, clavicles and the iliac crests. Additional features which have variably been reported include developmental delay, short stature, hypotonia and seizures. The disease is caused by pathogenic variants in the LRRK1 gene, and inherited in an autosomal recessive manner.

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.

Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated the yield of publicly funded clinical ES, performed at a tertiary center in Israel, over a 3-year period (2018-2020).

Light Emission in Metal-Semiconductor Tunnel Junctions: Direct Evidence for Electron Heating by Plasmon Decay.

We study metal-insulator-semiconductor tunnel junctions where the metal electrode is a patterned gold layer, the insulator is a thin layer of AlO, and the semiconductor is p-type silicon. We observe light emission due to plasmon-assisted inelastic tunneling from the metal to the silicon valence band. The emission cutoff shifts to higher energies with increasing voltage, a clear signature of electrically driven plasmons.

Noncoding deletions reveal a gene that is critical for intestinal function.

Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here we show that deletions of a sequence on human chromosome 16 that we term the intestine-critical region (ICR) cause intractable congenital diarrhoea in infants. Reporter assays in transgenic mice show that the ICR contains a regulatory sequence that activates transcription during the development of the gastrointestinal system.

Experimental Study of the Exciton Gas-Liquid Transition in Coupled Quantum Wells.

We study the exciton gas-liquid transition in GaAs/AlGaAs coupled quantum wells. Below a critical temperature, T_{C}=4.8  K, and above a threshold laser power density the system undergoes a phase transition into a liquid state.

Fano Resonance in an Electrically Driven Plasmonic Device.

We present an electrically driven plasmonic device consisting of a gold nanoparticle trapped in a gap between two electrodes. The tunneling current in the device generates plasmons, which decay radiatively. The emitted spectrum extends up to an energy that depends on the applied voltage.

Random telegraph signal in a metallic double-dot system.

In this work, we investigate the dynamics of a single electron surface trap, embedded in a self-assembly metallic double-dot system. The charging and discharging of the trap by a single electron is manifested as a random telegraph signal of the current through the double-dot device. We find that we can control the duration time that an electron resides in the trap through the current that flows in the device, between fractions of a second to more than an hour.

Exciton liquid in coupled quantum wells.

Excitons in semiconductors may form correlated phases at low temperatures. We report the observation of an exciton liquid in gallium arsenide/aluminum gallium arsenide-coupled quantum wells. Above a critical density and below a critical temperature, the photogenerated electrons and holes separate into two phases: an electron-hole plasma and an exciton liquid, with a clear sharp boundary between them.

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.

We analyzed four families that presented with a similar condition characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. We show that recessive mutations in the ASNS gene are responsible for this syndrome. Two of the identified missense mutations dramatically reduce ASNS protein abundance, suggesting that the mutations cause loss of function.

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

We studied five individuals from three Jewish Bukharian families affected by an apparently autosomal-recessive form of hereditary spastic paraparesis accompanied by severe intellectual disability, fluctuating central hypoventilation, gastresophageal reflux disease, wake apnea, areflexia, and unique dysmorphic features. Exome sequencing identified one homozygous variant shared among all affected individuals and absent in controls: a 1 bp frameshift TECPR2 deletion leading to a premature stop codon and predicting significant degradation of the protein. TECPR2 has been reported as a positive regulator of autophagy.

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.

Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosine is a key intermediate in 1-carbon metabolism and under normal circumstances is converted to glycine by the enzyme sarcosine dehydrogenase. We encountered six families from two different descents (French and Arab), each with at least one individual with elevated levels of sarcosine in blood and urine.

Exciton-plasmon interactions in quantum dot-gold nanoparticle structures.

We present a self-assembly method to construct CdSe/ZnS quantum dot-gold nanoparticle complexes. This method allows us to form complexes with relatively good control of the composition and structure that can be used for detailed study of the exciton-plasmon interactions. We determine the contribution of the polarization-dependent near-field enhancement, which may enhance the absorption by nearly two orders of magnitude and that of the exciton coupling to plasmon modes, which modifies the exciton decay rate.

NMR probing of the spin polarization of the ν=5/2 quantum Hall state.

Resistively detected nuclear magnetic resonance is used to measure the Knight shift of the 75As nuclei and determine the electron spin polarization of the fractional quantum Hall states of the second Landau level. We show that the 5/2 state is fully polarized within experimental error, thus confirming a fundamental assumption of the Moore-Read theory. We measure the electron heating under radio frequency excitation and show that we are able to detect NMR at electron temperatures down to 30 mK.

Optical probing of the spin polarization of the ν=5/2 quantum Hall state.

We apply polarization resolved photoluminescence spectroscopy to measure the spin polarization of a two dimensional electron gas in perpendicular magnetic field. We find that the splitting between the σ+ and σ- polarizations exhibits a sharp drop at ν=5/2 and is equal to the bare Zeeman energy, which resembles the behavior at even filling factors. We show that this behavior is consistent with filling factor ν=5/2 being unpolarized.

Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.

Objective: To define the frequency of the R92Q tumor necrosis factor receptor-associated periodic syndrome (TRAPS) mutation in patients with familial Mediterranean fever (FMF) and to study the role of this mutation in FMF.

Methods: Ninety-two FMF patients and 250 controls were genotyped for the R92Q mutation. The frequency of R92Q was assessed among 5 groups of FMF patients.

Plasmonic control of the shape of the Raman spectrum of a single molecule in a silver nanoparticle dimer.

We study surface-enhanced Raman scattering (SERS) of individual organic molecules embedded in dimers of two metal nanoparticles. The good control of the dimer preparation process, based on the usage of bifunctional molecules, enables us to study quantitatively the effect of the nanoparticle size on the SERS intensity and spectrum at the single molecule level. We find that as the nanoparticle size increases the total Raman intensity increases and the lower energy Raman modes become dominant.

Optical absorption to probe the quantum Hall ferromagnet at filling factor nu=1.

Optical absorption measurements are used to probe the spin polarization in the integer and fractional quantum Hall effect regimes. The system is fully spin polarized only at filling factor nu=1 and at very low temperatures ( approximately 40 mK). A small change in filling factor (deltanu approximately +/-0.

Photoluminescence ring formation in coupled quantum wells: excitonic versus ambipolar diffusion.

In this Letter, we study the diffusion properties of photoexcited carriers in coupled quantum wells around the Mott transition. We find that the diffusion of unbound electrons and holes is ambipolar and is characterized by a large diffusion coefficient, similar to that found in p-i-n junctions. Correlation effects in the excitonic phase are found to significantly suppress the carriers' diffusion.

Mott transition of excitons in coupled quantum wells.

In this work we study the phase diagram of indirect excitons in coupled quantum wells and show that the system undergoes a phase transition to an unbound electron-hole plasma. This transition is manifested as an abrupt change in the photoluminescence linewidth and peak energy at some critical power density and temperature. By measuring the exciton diamagnetism, we show that the transition is associated with an abrupt increase in the exciton radius.