Vol 1-1 Mini Review

Pathogenetic Potential of the Mutations of SPTAN 1

Valentina Rapaccini1,2, Francesco Miconi3,4, Susanna Esposito5, Augusto Pasini1,2

1Child Neurology and Psychiatry Unit, Systems Medicine Department, University Hospital Tor Vergata, Viale Oxford 81, Rome, Italy

2Unità Sanitaria Locale (USL) Umbria 2, Viale VIII Marzo, Terni, Italy

3Paediatric Section, Università degli Studi di Perugia, Perugia, Italy

4Paediatric Clinic, Azienda Ospedaliera di Terni, Terni, Italy

5Department of Surgical and Biomedical Sciences, Paediatric Clinic, Università degli Studi di Perugia, Perugia, Italy

DOI: 10.29245/2690-0009/2019/1.1101 View / Download Pdf
Vol 1-1 Mini Review

Commentary: "The Etiology of Down Syndrome"

Hultén MA1*, Iwarsson E1, Jonasson J2

1Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden

2Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden

It is well known that most Down Syndrome cases are of maternal origin, and that the likelihood of having a child with Trisomy 21 increases with maternal age. We have now tested the possibility that the extra chromosome in Trisomy 21 Down syndrome may be due to a segregation problem, taking place during fetal mitotic oogonial cell divisions. In this context, we have analysed the chromosome constitution in 27150 pre-meiotic oogonia from 26 fetal ovarian samples with FISH technique and found that the incidence of Trisomy 21 cell nuclei is raised at later stages of fetal oogonial development. This feature can possibly explain the maternal age effect.

DOI: 10.29245/2690-0009/2019/1.1102 View / Download Pdf
Vol 1-1 Commentary

Commentary: Sortilin Inhibition Limits Secretion-induced Progranulin-dependent Breast Cancer Progression and Cancer Stem Cell Expansion

Sara Rhost1, Éamon Hughes1, Anders Ståhlberg1,2,3, Göran Landberg1,2*

1Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Cancer Center, University of Gothenburg, Gothenburg, Sweden

2Department of Clinical Pathology and Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden

3Wallenberg Centre for Molecular and Translational Medicine, University of Gothenburg, Sweden

DOI: 10.29245/2690-0009/2019/1.1103 View / Download Pdf