Beate Herbarth

TL;DR: It is shown that patients from four families with WS4 have mutations in SOx10, whereas no mutation could be detected in patients with HSCR alone, and this point to an essential role ofSOx10 in the development of two neural crest-derived human cell lineages.

TL;DR: A role for Sox10 is proposed in conferring cell specificity to the function of other transcription factors in developing and mature glia, including Pax3 and Krox-20, twoother transcription factors involved in Schwann cell development.

TL;DR: The transcriptional regulator Sox10 is identified as an essential factor in mouse neural crest development and as a further candidate gene for human Hirschsprung disease, especially in cases where it is associated with features of Waardenburg syndrome.

TL;DR: Glial cells of the oligodendrocyte lineage express several highly related POU proteins including Tst-1/Oct6/SCIP and Brn-1 and structure function analysis revealed that Sox11 has a strong intrinsic transactivation capacity which is mediated by a transactivation domain in its carboxyl-terminal part.

TL;DR: Northern blot analysis revealed the highest abundance of mSorLA transcripts in the adult brain, lower levels in a variety of other organs and expression during embryogenesis, while in situ hybridization showed predominant localization in neurons of the cortex, the hippocampus and the cerebellum.