Case report: Clinical, genetic and immunological characterization of a novel variant in a patient with McLeod syndrome.

Pathogenic variants in the gene are associated with dysfunction or loss of XK protein leading to McLeod syndrome (MLS), a rare X-linked neuroacanthocytosis syndrome with multisystemic manifestation. Here we present clinical, genetic and immunological data on a patient originally admitted to our clinic for presumed post-COVID-19 syndrome, where thorough clinical work-up revealed a novel frameshift deletion in causal for the underlying phenotype. We additionally review the clinicogenetic spectrum of reported McLeod cases in the literature.

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

Pathogenic, biallelic variants in were identified in 2020 as a novel cause for autosomal-recessive Charcot-Marie-Tooth disease (CMT) type 2, an inherited neuropathy. codes for the enzyme sorbitol dehydrogenase. Loss of this enzyme's activity leads to an increase of sorbitol in serum.

An electrically conducting 3D coronene-based metal-organic framework.

A novel cubic mesoporous metal-organic framework (MOF), consisting of hexahydroxy--hexabenzocoronene (-HBC) and Fe ions is presented. The highly crystalline and porous MOF features broad optical absorption over the whole visible and near infrared spectral regions. An electrical conductivity of 10 S cm was measured on a pressed pellet.

Self-Assembly of Nanofilaments in Cyanobacteria for Protein Co-localization.

Cyanobacteria offer great potential as alternative biotechnological hosts due to their photoautotrophic capacities. However, in comparison to established heterotrophic hosts, several key aspects, such as product titers, are still lagging behind. Nanobiotechnology is an emerging field with great potential to improve existing hosts, but so far, it has barely been explored in microbial photosynthetic systems.

Development of primary reference facilities and measurement comparison of standard artifacts for the bidirectional transmittance distribution function.

To determine the bidirectional transmittance distribution function (BTDF) of diffusely transmitting materials, two new primary facilities have been developed at the Physikalisch-Technische Bundesanstalt (PTB) and Aalto University (Aalto). A detailed description of both facilities and the different approaches used are presented in this paper. The performance of both facilities is compared by determining the BTDF of two different diffuser types in both in-plane and out-of-plane bidirectional geometries at four different wavelengths in the visible spectral range.