Gunnar Houge

TL;DR: It is shown by chromosome conformation capture that genomic duplications in patient cells and genetically modified mice can result in the formation of new chromatin domains (neo-TADs) and that this process determines their molecular pathology.

TL;DR: The treated cells had no swollen mitochondria and retained the ability to exclude trypan blue until the final stage of dissolution, supporting the hypothesis that the changes were apoptotic rather than necrotic.

TL;DR: STRA6 mutations define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group.

TL;DR: Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells.

TL;DR: The first analysis of the FOS database on the effects of ERT on renal function, heart size, pain and quality of life is presented.