Annamaria Franzé

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Human sex chromosomes, which are morphologically and genetically different, share few regions of homology. Among them, only pseudoautosomal regions (PARs) pair and recombine during meiosis. To better address the complex biology of these regions, we sequenced the telomeric 400 kb of the long arm of the human X chromosome, including 330 kb of the human(More)
The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss. Moreover, it has been demonstrated that connexins are involved in regulation of(More)
The 5' flanking region of the human urokinase (uPA) gene has been fused to the reporter chloramphenicol acetyl transferase (CAT) gene and its activity assayed by transfection in two human cell lines. Progressive deletions of the uPA regulatory region from the 5' end maintain a high level of expression provided at least 1870 (in A1251 cells) or 1963 (in(More)
Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular characterization of the deletions harboring disease-causing genes is still(More)
Two independent methods are used to evaluate the protein-coding information content in different classes of DNA sequences. The first method allows to evaluate the statistical relevance of finding unidentified reading frames, longer than 100 codons, on both DNA strands of: a) 117 DNA sequences that code for 142 nuclear proteins; b) 39 stable RNA coding(More)
Otosclerosis, the single most common cause of hearing impairment in white adults, is characterised by bone dystrophy localized to the otic capsule and isolated endochondral bone sclerosis with alternating phases of bone resorption and formation. Conductive hearing loss develops when otosclerotic foci invade the stapedio-vestibular joint (oval window) and(More)
In this work we describe the experimental protocol set up to obtain very good results in speech performance and in time course, with a subject presenting profound bilateral sensorineural hearing loss with low-frequencies preservation. We used a bimodal stimulation with a like-hybrid modality. Auditory functions have been analyzed by standard tonal and(More)
BACKGROUND Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the(More)
Noise over-stimulation will induce or influence molecular pathways in the cochlea; one approach to the identification of the components of these pathways in the cochlea is to examine genes and proteins that change following different types and levels of stress. Quantitative reverse transcription polymerase chain reaction provides a method to look at(More)