Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp454 | Other diseases of bone and mineral metabolism | ECTS2013

Long bone fragility in NF1 is due to deficiency of architecture, micro-structure and matrix mineralization

Kuhnisch Jirko , Seto Jong , Lange Claudia , Schrof Susanne , Stumpp Sabine , Kobus Karolina , Grohmann Julia , Kossler Nadine , Varga Peter , Osswald Monika , Tinschert Sigrid , Seifert Wenke , el Khassawna Thaqif , Stevenson David , Elefteriou Florent , Kornak Uwe , Raum Kay , Fratzl Peter , Kolanczyk Mateusz , Mundlos Stefan

Neurofibromatosis type I (NF1) is a monogenetic disorder caused by mutations in the NF1 gene encoding for the Ras-GAP protein neurofibromin. Apart from benign tumour development NF1 is frequently associated with skeletal manifestations such as osteopenia or debilitating focal skeletal dysplasia. To assess a function of Nf1 in osteocytes we here apply a combinatorial approach of biophysical, histological and molecular techniques allowing differential analysis ...