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This study tested the potential of parametric and nonparametric regression modeling utilizing multispectral data from two different unoccupied aerial vehicles (UAVs) as a tool for the prediction of and indirect selection of grain yield (GY) in barley breeding experiments. The coefficient of determination ( R 2 ) of the nonparametric models for GY prediction ranged between 0.33 and 0.61 depending on the UAV and flight date, where the highest value was achieved with the DJI Phantom 4 Multispectral (P4M) image from 26 May (milk ripening). The parametric models performed worse than the nonparametric ones for GY prediction. Independent of the retrieval method and UAV, GY retrieval was more accurate in milk ripening than dough ripening. The leaf area index (LAI), fraction of absorbed photosynthetically active radiation (fAPAR), fraction vegetation cover (fCover), and leaf chlorophyll content (LCC) were modeled at milk ripening using nonparametric models with the P4M images. A significant effect of the genotype was found for the estimated biophysical variables, which was referred to as remotely sensed phenotypic traits (RSPTs). Measured GY heritability was lower, with a few exceptions, compared to the RSPTs, indicating that GY was more environmentally influenced than the RSPTs. The moderate to strong genetic correlation of the RSPTs to GY in the present study indicated their potential utility as an indirect selection approach to identify high-yield genotypes of winter barley.

Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα's role in PI4P generation requires its assembly into a heterotetrameric complex with EFR3, TTC7 and FAM126. Sequence alterations in two of these molecular partners, TTC7 (encoded by TTC7A or TCC7B) and FAM126, have been associated with a heterogeneous group of either neurological (FAM126A) or intestinal and immunological (TTC7A) conditions. Here we show that biallelic PI4KA sequence alterations in humans are associated with neurological disease, in particular hypomyelinating leukodystrophy. In addition, affected individuals may present with inflammatory bowel disease, multiple intestinal atresia and combined immunodeficiency. Our cellular, biochemical and structural modelling studies indicate that PI4KA-associated phenotypical outcomes probably stem from impairment of PI4KIIIα-TTC7-FAM126's organ-specific functions, due to defective catalytic activity or altered intra-complex functional interactions. Together, these data define PI4KA gene alteration as a cause of a variable phenotypical spectrum and provide fundamental new insight into the combinatorial biology of the PI4KIIIα-FAM126-TTC7-EFR3 molecular complex., (© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.)

Purpose: PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations., Methods: We report a retrospective multicenter study of antiepileptic therapy in 58 female patients with PCDH19 mutations and epilepsy aged 2-27 years (mean age 10.6 years)., Results: The most effective drugs after 3 months were clobazam and bromide, with a responder rate of 68% and 67%, respectively, where response was defined as seizure reduction of at least 50%. Defining long-term response as the proportion of responders after 12 months of treatment with a given drug in relation to the number of patients treated for at least 3 months, the most effective drugs after 12 months were again bromide and clobazam, with a long-term response of 50% and 43%, respectively. Seventy-four percent of the patients became seizure-free for at least 3 months, 47% for at least one year., Significance: The most effective drugs in patients with PCDH19 mutations were bromide and clobazam. Although epilepsy in PCDH19 mutations is often pharmacoresistant, three quarters of the patients became seizure-free for at least for 3 months and half of them for at least one year. However, assessing the effectiveness of the drugs is difficult because a possible age-dependent spontaneous seizure remission must be considered., (Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)