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Faletra F.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | D'Adamo A.P.,University of Trieste | Bruno I.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Athanasakis E.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | And 4 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. STL has been described with both autosomal dominant and recessive inheritance. The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes. Type IX collagen is a heterotrimeric molecule formed by three genetically distinct chains: α1, α2, and α3 encoded by the COL9A1, COL9A2, and COL9A3 genes. Up to this time, only heterozygous mutations of COL9A3 gene have been reported in human and related to: (1) multiple epiphyseal dysplasia type 3, (2) susceptibility to an intervertebral disc disease, and (3) hearing loss. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis. © 2013 Wiley Periodicals, Inc. Source


Bek A.,CBM scrl Area Science Park Basovizza | De Angelis F.,University of Catanzaro | De Angelis F.,Italian Institute of Technology | Das G.,Italian Institute of Technology | And 4 more authors.
Micron | Year: 2011

Tip-Enhanced Raman spectroscopy (TERS) is a promising microscopy technique which combines, in principle, outstanding spatial resolution with a detailed chemical analysis of the sample. However, as yet, it is not routinely used although an increasing number of research groups are becoming more actively involved in the field. Among the several reasons which can explain the relatively low usage of TERS, the lack of reproducibility of tips as field enhancers is probably the most critical. Here we propose and demonstrate a TERS microscope which uses photonic engineered tips. These tips are based on standard silicon nitride atomic force microscope (AFM) cantilevers. A photonic crystal together with a plasmonic waveguide focuses the Raman excitation laser to the apex of the waveguide, enabling a photon confinement equivalent to the radius of curvature of the nanofabricated tip. These tips were successfully applied here in both AFM imaging and high resolution Raman spectroscopy. The new tips produced AFM imaging performances comparable with the best AFM commercial tips. Moreover, we demonstrate that the photonic crystal combined with the plasmonic waveguide acts effectively as a localized near field emitter. © 2010 Elsevier Ltd. Source


De Angelis F.,Italian Institute of Technology | De Angelis F.,University of Catanzaro | Das G.,Italian Institute of Technology | Candeloro P.,University of Catanzaro | And 10 more authors.
Nature Nanotechnology | Year: 2010

The fields of plasmonics, Raman spectroscopy and atomic force microscopy have recently undergone considerable development, but independently of one another. By combining these techniques, a range of complementary information could be simultaneously obtained at a single molecule level. Here, we report the design, fabrication and application of a photonic-plasmonic device that is fully compatible with atomic force microscopy and Raman spectroscopy. Our approach relies on the generation and localization of surface plasmon polaritons by means of adiabatic compression through a metallic tapered waveguide to create strongly enhanced Raman excitation in a region just a few nanometres across. The tapered waveguide can also be used as an atomic force microscope tip. Using the device, topographic, chemical and structural information about silicon nanocrystals may be obtained with a spatial resolution of 7nm. © 2010 Macmillan Publishers Limited. All rights reserved. Source


Marini M.,University of Udine | Piantanida L.,CBM scrl Area Science Park Basovizza | Musetti R.,University of Udine | Bek A.,CBM scrl Area Science Park Basovizza | And 7 more authors.
Nano Letters | Year: 2011

A DNA-origami actuator capable of autonomous internal motion in accord to an external chemical signal was designed, built, operated and imaged. The functional DNA nanostructure consists of a disk connected to an external ring in two, diametrically opposite points. A single stranded DNA, named probe, was connected to two edges of the disk perpendicularly to the axis of constrain. In the presence of a hybridizing target molecule, the probe coiled into a double helix that stretched the inner disk forcing the edges to move toward each other. The addition of a third single stranded molecule that displaced the target from the probe restored the initial state of the origami. Operation, dimension and shape were carefully characterized by combining microscopy and fluorescence techniques. © 2011 American Chemical Society. Source

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