0000000000248346

AUTHOR

Yang Cao

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly

International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…

research product

Tuning the Pseudospin Polarization of Graphene by a Pseudomagnetic Field.

One of the intriguing characteristics of honeycomb lattices is the appearance of a pseudo-magnetic field as a result of mechanical deformation. In the case of graphene, the Landau quantization resulting from this pseudo-magnetic field has been measured using scanning tunneling microscopy. Here we show that a signature of the pseudo-magnetic field is a local sublattice symmetry breaking observable as a redistribution of the local density of states. This can be interpreted as a polarization of graphene's pseudospin due to a strain induced pseudo-magnetic field, in analogy to the alignment of a real spin in a magnetic field. We reveal this sublattice symmetry breaking by tunably straining grap…

research product

Solvent-mediated assembly of atom-precise gold–silver nanoclusters to semiconducting one-dimensional materials

Bottom-up design of functional device components based on nanometer-sized building blocks relies on accurate control of their self-assembly behavior. Atom-precise metal nanoclusters are well-characterizable building blocks for designing tunable nanomaterials, but it has been challenging to achieve directed assembly to macroscopic functional cluster-based materials with highly anisotropic properties. Here, we discover a solvent-mediated assembly of 34-atom intermetallic gold–silver clusters protected by 20 1-ethynyladamantanes into 1D polymers with Ag–Au–Ag bonds between neighboring clusters as shown directly by the atomic structure from single-crystal X-ray diffraction analysis. Density fun…

research product

CCDC 1962411: Experimental Crystal Structure Determination

Related Article: Peng Yuan, Ruihua Zhang, Elli Selenius, Pengpeng Ruan, Yangrong Yao, Yang Zhou, Sami Malola, Hannu Häkkinen, Boon K. Teo, Yang Cao, Nanfeng Zheng|2020|Nat.Commun.|11|2229|doi:10.1038/s41467-020-16062-6

research product

CCDC 1962412: Experimental Crystal Structure Determination

Related Article: Peng Yuan, Ruihua Zhang, Elli Selenius, Pengpeng Ruan, Yangrong Yao, Yang Zhou, Sami Malola, Hannu Häkkinen, Boon K. Teo, Yang Cao, Nanfeng Zheng|2020|Nat.Commun.|11|2229|doi:10.1038/s41467-020-16062-6

research product