Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.

Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.

Primary charge separation in Chloroflexus aurantiacus reaction centers at room temperature: ultrafast transient absorption measurements on Q-depleted preparations with native and chemically modified bacteriopheophytin composition.

The initial electron transfer (ET) processes in reaction centers (RCs) of Chloroflexus (Cfl.) aurantiacus were studied at 295 K using femtosecond transient absorption (TA) difference spectroscopy. Particular attention was paid to the decay kinetics of the primary electron donor excited state (P) and the formation/decay of the absorption band of the monomeric bacteriochlorophyll a anion (B) at ~ 1035 nm, which reflects the dynamics of the charge-separated state PB.

Electronic states bound by repulsive potentials in graphene irradiated by a circularly polarized electromagnetic field.

In the framework of the Floquet theory of periodically driven quantum systems, it is demonstrated that irradiation of graphene by a circularly polarized electromagnetic field induces an attractive area in the core of repulsive potentials. Consequently, the quasi-stationary electron states bound by the repulsive potentials appear. The difference between such field-induced states in graphene and usual systems with the parabolic dispersion of electrons is discussed and possible manifestations of these states in electronic transport and optical spectra of graphene are considered.