Search results for "MUTATION"

Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and …

1996

A statistically significant association between a silent mutation (102T/C) in the serotonin-2A (5-HT2A) receptor gene and schizophrenia has recently been reported in a sample of Japanese patients and healthy controls. This finding suggests that genetic predisposition to schizophrenia may be affected by a functional 5-HT2A receptor variant that is in linkage disequilibrium with 102T/C. In the present study, we have sought to identify genetic variation in the 5-HT2A receptor gene by screening genomic DNA samples from 91 unrelated subjects comprising 45 patients with schizophrenia and 46 healthy controls by using single-strand conformation analysis. We have identified four nucleotide sequence …

Quasispecies dynamics and fixation of a synonymous mutation in hantavirus transmission.

2008

RNA-dependent RNA polymerases, the key enzymes in replication of RNA viruses, have a low fidelity; thus, these viruses replicate as a swarm of mutants termed viral quasispecies. Constant generation of new mutations allows RNA viruses to adapt swiftly to a novel environment through selection of both pre-existing and de novo-generated genetic variants. Here, quasispecies dynamics were studied in vivo in controlled hantavirus transmission from experimentally infected to naïve rodents through infested cage bedding. An elementary step of virus microevolution was apparent, as one synonymous mutation (A759G) repeatedly became fixed in the viral RNA quasispecies populations in the recipient animals.

Le rapprochement de conjoint des enseignants-chercheurs : un droit à distance variable

2022

Le rapprochement de conjoint des enseignants-chercheurs : un droit à distance

2017

International audience

SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita.

2006

RNA interference offers a novel approach for treating genetic disorders including the rare monogenic skin disorder pachyonychia congenita (PC). PC is caused by mutations in keratin 6a (K6a), K6b, K16, and K17 genes, including small deletions and single nucleotide changes. Transfection experiments of a fusion gene consisting of K6a and a yellow fluorescent reporter (YFP) resulted in normal keratin filament formation in transfected cells as assayed by fluorescence microscopy. Similar constructs containing a single nucleotide change (N171K) or a three-nucleotide deletion (N171del) showed keratin aggregate formation. Mutant-specific small inhibitory RNAs (siRNAs) effectively targeted these site…

Tetraspanin CD151 Mediates Papillomavirus Type 16 Endocytosis

2013

ABSTRACT Human papillomavirus type 16 (HPV16) is the primary etiologic agent for cervical cancer. The infectious entry of HPV16 into cells occurs via a so-far poorly characterized clathrin- and caveolin-independent endocytic pathway, which involves tetraspanin proteins and actin. In this study, we investigated the specific role of the tetraspanin CD151 in the early steps of HPV16 infection. We show that surface-bound HPV16 moves together with CD151 within the plane of the membrane before they cointernalize into endosomes. Depletion of endogenous CD151 did not affect binding of viral particles to cells but resulted in reduction of HPV16 endocytosis. HPV16 uptake is dependent on the C-termina…

The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-S…

2022

The development of innovative technologies and the advances in the genetics and genomics, have offered new opportunities for personalized treatment in oncology. Although the selection of the patient based on the molecular characteristics of the neoplasm has the potential to revolutionize the therapeutic scenario of oncology, this approach is extremely challenging. The access, homogeneity, and economic sustainability of the required genomic tests should be warranted in the clinical practice, as well as the specific scientific and clinical expertise for the choice of medical therapies. All these elements make essential the collaboration of different specialists within the Molecular Tumor Boar…

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene

2006

Summary Objective  Congenital primary hypothyroidism (CH) occurs in one of 4000 births and in 20% of the cases CH is due to a defect in thyroid hormonogenesis. Candidate genes were examined to determine the precise aetiology of suspected dyshormonogenesis in CH. Design  The genes that code for thyroid peroxidase (TPO), pendrin (PDS), sodium iodide symporter (NIS) and thyroid oxidase 2 (THOX2) were sequenced directly from genomic DNA. Patients  Two girls found to have CH in the neonatal screening programme and suspected of having thyroid dyshormonogenesis were investigated to identify their molecular defect. Results  Patient A had a novel heterozygous 1 bp insertion in the THOX2 gene (ins602…

Modified Landau levels, damped harmonic oscillator and two-dimensional pseudo-bosons

2010

In a series of recent papers one of us has analyzed in some details a class of elementary excitations called {\em pseudo-bosons}. They arise from a special deformation of the canonical commutation relation $[a,a^\dagger]=\1$, which is replaced by $[a,b]=\1$, with $b$ not necessarily equal to $a^\dagger$. Here, after a two-dimensional extension of the general framework, we apply the theory to a generalized version of the two-dimensional Hamiltonian describing Landau levels. Moreover, for this system, we discuss coherent states and we deduce a resolution of the identity. We also consider a different class of examples arising from a classical system, i.e. a damped harmonic oscillator.

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review

2023

Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A>G mutation in the tRNASer(UCN) gene affecting the third base of the anticodon triplet in a girl with profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, a clinical history of epilepsia partialis continua and vomiting, typical of MELAS syndrome, leading to a myoclonic epilepticus status, and myopathy with severe COX deficiency at muscle biopsy. The mutation was also …