Research Institute of Molecular Pathology

2 ARTICLES PUBLISHED IN JoVE

Neuroscience

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Valerio Conti^*1, Aurelie Carabalona^*2,3,15, Emilie Pallesi-Pocachard^2,3,4, Richard J. Leventer^5,6,7, Fabienne Schaller^2,3,8, Elena Parrini¹, Agathe A. Deparis^2,3, Françoise Watrin^2,3, Emmanuelle Buhler^2,3,8, Francesca Novara⁹, Stefano Lise¹⁰, Alistair T. Pagnamenta¹⁰, Usha Kini¹¹, Jenny C. Taylor¹⁰, Orsetta Zuffardi^9,12, Alfonso Represa^2,3, David Antony Keays¹³, Renzo Guerrini^1,14, Antonio Falace^2,3, Carlos Cardoso^2,3

¹University of Florence, ²INSERM INMED, ³Aix-Marseille University, ⁴Plateforme Biologie Moléculaire et Cellulaire INMED, ⁵Royal Children's Hospital, ⁶Murdoch Children's Research Institute, ⁷University of Melbourne, ⁸Plateforme postgenomique INMED, ⁹University of Pavia, ¹⁰Wellcome Trust Centre for Human Genetics, ¹¹Oxford Radcliffe NHS Trust, ¹²IRCCS Casimiro Mondino Foundation, ¹³Research Institute of Molecular Pathology, ¹⁴IRCCS Stella Maris, ¹⁵Columbia University

Periventricular nodular heterotopia (PNH) is the most common form of malformation of cortical development (MCD) in adulthood but its genetic basis remains unknown in most sporadic cases. We have recently developed a strategy to identify novel candidate genes for MCDs and to directly confirm their causative role in vivo.

Biology

Stabilizing a Femur Osteotomy with a Plate Fixation in Ambystoma mexicanum

Anastasia Polikarpova¹, Christian Bucher², Agnes Ellinghaus^2,3, Helena Okulski¹, Georg Duda², Katharina Schmidt-Bleek^2,3, Elly Margaret Tanaka¹

¹Research Institute of Molecular Pathology, ²Julius Wolff Institute for Biomechanics and Musculoskeletal Regeneration, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, ³Berlin Institute of Health Centre for Regenerative Therapies, Berlin Institute of Health at Charité - Universitätsmedizin Berlin

A protocol for femoral osteotomy surgery with the use of internal plate fixation in mature axolotls is presented. The procedure can be used to perform comparative studies on limb regeneration and fracture healing in aquatic amphibians.