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By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported DFNB42 locus. Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as the cause of hearing impairment. By(More)
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)
BACKGROUND In 2006, a survey performed by Morrison et al analyzed the experience of aesthetic surgery training from the perspective of residents and their program directors in plastic surgery programs across the United States. OBJECTIVES The authors conducted a survey to follow-up on the Morrison results three years after publication, to assess the(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)
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)