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Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F). Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15. This suggests a genotype-phenotype correlation in which hypomorphic alleles(More)
In this paper, we propose a refinement of the modelling of biological regulatory networks based on the discrete approach of Rene Thomas. We refine and automatise the use of delays of activation/inhibition in order to specify which variable is more quickly affected by a change of its regulators. The formalism of linear hybrid automata is well suited to allow(More)
The logical formalism of René Thomas is a powerful approach for the discrete (qualitative) modeling and analysis of the Biological Regulatory Networks (BRNs). In this paper, we qualitatively model the NF-kB associated biological regulatory network in the case of HIV-1 infection. High levels of HIV-1 genes expression can be due to the increased levels(More)
There are five different types of steganography based on the carrier object that is used for embedding the secret information. The carrier object may be images, text, videos, audios or network protocol packets. If the image is used as a carrier, it is called image steganography. Similarly if video is used for hiding secret messages, we call it video(More)
Image Steganography is the process of embedding text in images such that its existence cannot be detected by Human Visual System (HVS) and is known only to sender and receiver. This paper presents a novel approach for image steganography using Hue-Saturation-Intensity (HSI) color space based on Least Significant Bit (LSB). The proposed method transforms the(More)
Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transporter deficiency syndrome, including, most significantly,(More)
BACKGROUND Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667). Here,(More)