Cristina Rusu

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  • Petra Seemann, Anja Brehm, Jana König, Carsten Reissner, Sigmar Stricker, Pia Kuss +14 others
  • 2009
Signaling output of bone morphogenetic proteins (BMPs) is determined by two sets of opposing interactions, one with heterotetrameric complexes of cell surface receptors, the other with secreted antagonists that act as ligand traps. We identified two mutations (N445K,T) in patients with multiple synostosis syndrome (SYM1) in the BMP-related ligand GDF5.(More)
—We have developed a micromachined flow cell consisting of a flow channel integrated with micropipettes. The flow cell is used in combination with an optical trap setup (optical tweezers) to study mechanical and structural properties of-DNA molecules. The flow cell was realized using silicon micromachining including the so-called buried channel technology(More)
  • Carmen Vulpoi, Mihaela Anton, Ion Poeata, Jeanina Idriceanu, Cristina Rusu
  • 2013
The neuro-cardio-facial-cutaneous syndrome (NCFCS) concept was recently established in order to group a number of hereditary disorders characterized by a variable degree of growth and mental retardation, cardiac defects, dysmorphic facial features and skin abnormalities, and having a common background, germline mutations in genes of the RAS-MAPKinase(More)
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified(More)
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