Early commissioning results for spectroscopic X-ray Nano-Imaging Beamline BL 7C sXNI at PLS-II.

For spectral imaging of chemical distributions using X-ray absorption near-edge structure (XANES) spectra, a modified double-crystal monochromator, a focusing plane mirrors system and a newly developed fluorescence-type X-ray beam-position monitoring and feedback system have been implemented. This major hardware upgrade provides a sufficiently stable X-ray source during energy scanning of more than hundreds of eV for acquisition of reliable XANES spectra in two-dimensional and three-dimensional images. In recent pilot studies discussed in this paper, heavy-metal uptake by plant roots in vivo and iron's phase distribution in the lithium-iron-phosphate cathode of a lithium-ion battery have been imaged.

Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis.

We have identified a novel homozygous nonsense mutation (W516X) in the kidney-type electrogenic sodium bicarbonate cotransporter 1 (NBC1) in a patient with isolated proximal renal tubular acidosis (pRTA). To specifically address the pathogenesis of this mutation, we created NBC1 W516X knock-in mice to match the patient's abnormalities. The expression of NBC1 mRNA and protein in the kidneys of NBC1(W516X/W516X) mice were virtually absent, indicating that nonsense-mediated mRNA decay (NMD) is involved in the defective transcription and translation of this mutation.