Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency

BackgroundNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common clinical phenotype of citrin deficiency in infants. Its phenotype is atypical, so genetic testing is quite necessary for the diagnosis.Case presentationWe report 4 patients with jaundice and low body weight. Furthermore, the biochemical examination of all showed abnormal liver function and metabolic changes. DNA samples of the patients were extracted and subjected to genetic screening. All candidate pathogenic variants were validated by Sanger sequencing, and CNVs were ascertained by qPCR. The genetic screening revealed 6 variants in 4 patients, and all patients carried compound heterozygous variants of SLC25A13. Importantly, 3 variants were newly discovered: a nonsense mutation in exon17 (c.1803C > G), a frameshift mutation in exon 11(c.1141delG) and a deletion of the whole exon11. Thus, four NICCD patients were clearly caused by variants of SLC25A13. Biochemical indicators of all patients gradually returned to normal after dietary adjustment.ConclusionsOur study clarified the genetic etiology of the four infants, expanded the variant spectrum of SLC25A13, and provided a basis for genetic counseling of the family. Early diagnosis and intervention should be given to patients with NICCD

Current induced anisotropic magnetoresistance in topological insulator films

Topological insulators are insulating in the bulk but possess spin-momentum locked metallic surface states protected by time-reversal symmetry. The existence of these surface states has been confirmed by angle-resolved photoemission spectroscopy (ARPES) and scanning tunneling microscopy (STM). Detecting these surface states by transport measurement, which might at first appear to be the most direct avenue, was shown to be much more challenging than expected. Here, we report a detailed electronic transport study in high quality Bi2Se3 topological insulator thin films. Measurements under in-plane magnetic field, along and perpendicular to the bias current show opposite magnetoresistance. We argue that this contrasting behavior is related to the locking of the spin and current direction providing evidence for helical spin structure of the topological surface states

Exciton-polaritons in van der Waals heterostructures embedded in tunable microcavities.

Layered materials can be assembled vertically to fabricate a new class of van der Waals heterostructures a few atomic layers thick, compatible with a wide range of substrates and optoelectronic device geometries, enabling new strategies for control of light-matter coupling. Here, we incorporate molybdenum diselenide/hexagonal boron nitride (MoSe2/hBN) quantum wells in a tunable optical microcavity. Part-light-part-matter polariton eigenstates are observed as a result of the strong coupling between MoSe2 excitons and cavity photons, evidenced from a clear anticrossing between the neutral exciton and the cavity modes with a splitting of 20 meV for a single MoSe2 monolayer, enhanced to 29 meV in MoSe2/hBN/MoSe2 double-quantum wells. The splitting at resonance provides an estimate of the exciton radiative lifetime of 0.4 ps. Our results pave the way for room-temperature polaritonic devices based on multiple-quantum-well van der Waals heterostructures, where polariton condensation and electrical polariton injection through the incorporation of graphene contacts may be realized