GENETIC ANALYSIS OF ASPARTATE AMINOTRANSFERASE ISOZYMES FROM HYBRIDS BETWEEN DROSOPHILA MELANOGASTER AND DROSOPHILA SIMULANS AND MUTAGEN-INDUCED ISOZYME VARIANTS [PDF]
E. H. Grell
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In this work, we reveal how different enzyme binding configurations influence the fluorescence decay of NAD(P)H in live cells using time‐resolved anisotropy imaging and fluorescence lifetime imaging microscopy (FLIM). Mathematical modelling shows that the redox states of the NAD and NADP pools govern these configurations, shaping their fluorescence ...
Thomas S. Blacker+8 more
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The frequency in Japanese of genetic variants of 22 proteins [PDF]
R E Ferrell+7 more
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Neutrophil deficiency increases T cell numbers at the site of tissue injury in mice
In wild‐type mice, injury or acute inflammation induces neutrophil influx followed by macrophage accumulation. Mcl1ΔMyelo (neutrophil‐deficient) mice lack neutrophils, and in response to muscle injury show fewer macrophages and exhibit strikingly elevated T‐cell numbers, primarily non‐conventional “double‐negative” (DN) αβ and γδ T cells.
Hajnalka Halász+6 more
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Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa
Introduction Retinitis pigmentosa (RP) is a type of inherited retinal degeneration (IRD) that typically leads to vision loss in individuals of working age. Currently, over 100 genes and loci, as well as over 1000 individual variants, have been identified
He‐nan Sun+14 more
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Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia+17 more
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Glucose Phosphate Isomerase Deficiency with Congenital Nonspherocytic Hemolytic Anemia: A New Variant (Type Nordhorn) I. Clinical and Genetic Studies [PDF]
W. Schröter+6 more
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MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin+14 more
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Improvement of variant reclassification in genetic neurodevelopmental conditions
Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency of variants ...
Michelle Kowanda+8 more
doaj
A Rare Genetically Determined Variant of Pseudocholinesterase in two German Families with High Plasma Enzyme Activity [PDF]
Axel Delbrück, E. Henkel
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