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2022-12-02
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Ciliary beating patterns map onto a low-dimensional behavioural space
Biological systems are robust to perturbations at both the genetic and environmental levels, although these same perturbations can elicit variation in behaviour. The interplay between functional rob
DataCite Commons2025-05-01 更新130
A de novo mutation in ITPR3 causes severe combined immunodeficiency. A de novo mutation in ITPR3 causes severe combined immunodeficiency
This study reports two unrelated patients with a combined immunodeficiency. Whole-exome sequencing of both patients, their healthy parents and siblings identified a single de novo missense variant in
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Comparison of the kinetic parameters of the isocitrate oxidation activity of the wild-type and mutant IDH enzymes.
aWhen calculating the Km for isocitrate, the concentration of D-isocitrate was calculated as 50% of the total DL-isocitrate in this study. “na” indicates no measurable activity. Comparison of the kine
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Changes in parameters of steady-state variables and maximum conductance of I Kur carried by the KCNA5 mutants relative to WT.
Changes in parameters of steady-state variables and maximum conductance of IKur carried by the KCNA5 mutants relative to WT.
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RNAseq of FACS-sorted C.elegans neurons from wildtype and thoc-5(wy822) mutant animals.. Caenorhabditis elegans
We sorted approx. 10000 neurons per sample from day one adult worms. We collected two wildtype samples and three thoc-5(wy822) mutant samples. Overall design: RNAseq of FACS-sorted C.elegans neurons f
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