Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine.

We broaden the clinical versatility of human nasal epithelial (HNE) cells. HNEs were isolated from 10 participants harboring () variants: 9 with rare variants (Q359R [=2], G480S, R334W [=5], and R560T) and 1 harboring R117H;7T;TG10/5T;TG12. Cultures were differentiated at the air-liquid interface.

Fluorescence Lifetime Control of Nitrogen Vacancy Centers in Nanodiamonds for Long-Term Information Storage.

Today's huge amount of data generation and transfer induced an urgent requirement for long-term data storage. Here, we demonstrate and discuss a concept for long-term storage using NV centers inside nanodiamonds. The approach is based upon the radiation-induced generation of additional vacancies (so-called GR1 states), which quench the initial NV centers, resulting in a reduced overall fluorescence lifetime of the NV center.

Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations.

We report 4 cases of primary ciliary dyskinesia in unrelated indigenous North American children caused by identical, homozygous, likely pathogenic deletions in the DNAL1 gene. These shared DNAL1 deletions among dispersed indigenous populations suggest that primary ciliary dyskinesia accounts for more lung disease with bronchiectasis than previously recognized in indigenous North Americans.

New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.

Latent TGFB-binding protein 3 (LTBP3) is known to increase bio-availability of TGFB. A homozygous mutation in this gene has previously been associated with oligodontia and short stature in a single family. We report on two sisters with homozygous truncating mutations in LTBP3.