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Author

H. Stachelscheid

2 papers indexed here

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Open access Sep 2026

Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation.

BACKGROUND Approximately 10% of patients with Severe Combined Immunodeficiency (SCID) phenotype lack a known genetic cause. In particular, the molecular basis of thymic defects is poorly understood. Homeobox (HOX) genes encode conserved transcription factors that control spatial body development. The function of human...

Sarah S. Dinges, M. Bosticardo, Anke Hirschfelder et al. · 0 citations
Open access Aug 2026

Reversible epiblast regionalization determines differentiation potential of human pluripotent stem cells.

It is shown that loss of default neural differentiation capacity and failure to form brain organoids are linked to erosion of bivalent chromatin marks at developmental gene loci, independent of DNA methylation, driving acquisition of a posterior epiblast-like state and premature developmental gene expression.

Magdalena A. Sutcliffe, Eugenia Wong, S. Wingett et al. · 1 citation

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