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ariocarpus bravoanus/asthenia

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2 results

The inhibitor kappaB-ortholog Cactus is necessary for normal neuromuscular function in Drosophila melanogaster.

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The Drosophila inhibitor-kappaB ortholog Cactus acts as an inhibitor of the Rel-transcription factors Dorsal and Dif. In blastoderm cells and immune competent cells, Cactus inhibits Dorsal and Dif by preventing their nuclear localization. Cactus, Dorsal and Dif are also expressed in somatic muscles,

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

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We describe four families with affected siblings showing unique clinical features: early-onset (before 1 year of age) progressive diffuse brain atrophy with regression, postnatal microcephaly, postnatal growth retardation, muscle weakness/atrophy, and respiratory failure. By whole-exome sequencing,
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